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業績一覧（2011年以降）

2022

英文論文

  1. Matsubara K, Hattori T, Narumi S. Achievement of developmental milestones recorded in real time: A mobile app-based study. J Pediatr. 2022; 245: 201-207
  2. Fukami M, Shindo J, Ogata T, Kageyama I, Kamimaki T. SHOX far-downstream deletion in a patient with non-syndromic short stature. Am J Med Genet. 2022; 188(7): 2173-2177
  3. Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M, Ogata T. Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse. J Endocr Soc. 2022; 6(4): bvac022
  4. Aoto S, Hangai M, Ueno-Yokohata H, Ueda A, Igarashi M, Ito Y, Tsukamoto M, Jinno T, Sakamoto M, Okazaki Y, Hasegawa F, Ogata-Kawata H, Namura S, Kojima K, Kikuya M, Matsubara K, Taniguchi K, Okamura K. Collection of 2429 constrained headshots of 277 volunteers for deep learning. Sci Rep. 2022; 12(1): 3730
  5. Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022; 14(1): 41
  6. Campbell D, Reyes M, Kaygusuz SB, Abali S, Guran T, Bereket A, Kagami M, Turan S, Jüppner H. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B. Bone. 2022; 157: 116344
  7. Sato B, Kanai S, Sakaguchi D, Yajima K, Matsumoto Y, Morohoshi K, Kagaya S, Izumo N, Ichinose M, Kang W, Miyado M, Miyado K, Kawano N. Suppressive role of lactoferrin in overweight-related female fertility problems. Nutrients. 2022; 14(5): 938
  8. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. J Hum Genet. 2022; 67(10): 607-611
  9. Narusawa H, Sasaki S, Hara-Isono K, Matsubara K, Fukami M, Nagasaki K, Kagami M. A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. Eur J Med Genet. 2022; 65(6): 104502
  10. Tamaoka S, Fukuda A, Katoh-Fukui Y, Hattori A, Uchida H, Shimizu S, Yanagi Y, Kanaan SB, Sakamoto S, Kasahara M, Yoshioka T, Fukami M. Quantification of maternal microchimeric cells in the liver of children with biliary atresia. J Pediatr Gastroenterol Nutr. 2022; 74(4): e83-e86
  11. Tanase-Nakao K, Muroya K, Adachi M, Abe K, Hasegawa T, Narumi S. A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation. Clin Pediatr Endocrinol. 2022; 31(4): 250-255
  12. Narumi S, Opitz R, Nagasaki K, Muroya K, Asakura Y, Adachi M, Abe K, Sugisawa C, Kühnen P, Ishii T, Nöthen MM, Krude H, Hasegawa T. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling. Hum Mol Genet. 2022; 31(23): 3967-3974
  13. Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T. The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration. Congenit Anom (Kyoto). 2022; 62(3): 136-137
  14. Okamoto M, Hamada J, Ochi F, Fukami M, Eguchi M. Short stature in a child with a novel Aggrecan gene variant: A case report. Pediatr Int. 2022; 64(1): e15116
  15. Kyodo R, Takeuchi I, Narumi S, Shimizu H, Hata K, Yoshioka T, Tanase-Nakao K, Shimizu T, Arai K. Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report. Clin Immunol. 2022; 238: 109015
  16. Kawasaki Y, Sato T, Nakano S, Usui T, Narumi S, Ishii T, Hasegawa T. High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2022; 31(2): 93-97
  17. Kang W, Ishida E, Amita M, Tatsumi K, Yonezawa H, Yohtsu M, Katano D, Onozawa K, Kaneko E, Iwasaki W, Naito N, Yamada M, Kawano N, Miyado M, Sato B, Saito H, Saito T, Miyado K. Trehalose suppresses lysosomal anomalies in supporting cells of oocytes and maintains female fertility. Nutrients. 2022; 14(10): 2156
  18. Kang W, Katano D, Kawano N, Miyado M, Miyado K. Extra-mitochondrial citrate synthase controls cAMP-dependent pathway during sperm acrosome reaction in mice. MicroPubl Biol. 2022; 10.17912
  19. Ikegawa K, Hachiya R, Akiba K, Hasegawa Y. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: A case report. Clin Pediatr Endocrinol. 2022; 31(2): 87-92
  20. Hara-Isono K, Nakamura A, Fuke T, Inoue T, Kawashima S, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders. J Clin Endocrinol Metab. 2022; 107(8): e3121-e3133
  21. Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akustu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M. Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on the GNAS locus. J Bone Miner Res. 2022; 37(10): 1850-1859
  22. Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. J Med Genet. 2022; 59(12): 1241-1246
  23. Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y. Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. Hum Genome Var. 2022; 9(1): 32
  24. Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T. ACAN biallelic variants in a girl with severe idiopathic short stature. J Hum Genet. 2022; 67(8): 481-486
  25. Naiki Y, Miyado M, Shindo M, Horikawa R, Hasegawa Y, Katsumata N, Takada S, Akutsu H, Onodera M, Fukami M. Adeno-associated virus-mediated gene therapy for patients' fibroblasts,induced pluripotent stem cells and a mouse model of congenital adrenal hyperplasia. Hum Gene Ther. 2022; 33(15-16): 801-809
  26. Shindo M, Miyado K, Kang W, Fukami M, Miyado M. Efficient superovulation and egg collection from mice. Bio Protoc. 2022; 12(11): e4439
  27. Higashiyama H, Ohsone Y, Takatani R, Futatani T, Kosaki R, Kagami M. Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation. Eur J Med Genet. 2022; 65(10): 104580
  28. Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S. Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review. Endocr J. 2022; 69(7): 831-838
  29. Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker E, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Hum Mol Genet. 2022; 31(13): 2223-2235
  30. Kuriki A, Hosoya S, Ozawa K, Wada S, Kosugi Y, Wada YS, Sekizawa A, Miyazaki O, Kagami M, Sago H. Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome. J Obstet Gynaecol Res. 2022; 48(12): 3314-3318
  31. Fujii S, Mochizuki K, Usui H, Kitagawa N, Umemoto S, Tanaka M, Tanaka Y, Otani M, Nozawa K, Kurosawa K, Kagami M, Shinkai M. Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report. Surg Case Rep. 2022; 8(1): 161
  32. Miyagi T, Yamazaki R, Ueda K, Narumi S, Hayamizu Y, Uji-I H, Kuroda M, Kanekura K. The patterning and proportion of charged residues in the arginine-rich mixed-charge domain determine the membrane-less organelle targeted by the protein. Int J Mol Sci. 2022; 23(14): 7658
  33. Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. Sci Rep. 2022; 12(1): 14589
  34. Ota T, Katsumata N, Naiki Y, Horikawa R. Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenital. J Pediatr Endocrinol Metab. 2022; 35(9): 1189-1193
  35. Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022; 12(1): 17079
  36. Akiba K, Hasegawa Y, Katoh-Fukui Y, Terao M, Takada S, Hasegawa T, Fukami M, Narumi S. POU1F1/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads dwarfism. Endocrinology. 2022 in press
  37. Ariyasu D, Nagamatsu F, Aso K, Akiba K, Hasegawa Y. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty. Endocr J. 2022 in press
  38. Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S. A nationwide survey of Schaaf-Yang syndrome in Japan. J Hum Genet. 2022; 67(12): 735-738
  39. Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. Eur J Med Genet. 2022 in press

受賞

鏡雅代　　　第22回川野賞基礎医学分野

張若谷　　　滋慶教育科学研究所（略称JESC）奨励賞

鳴海覚志　　日本小児科学会 学術研究賞

成澤宏宗　　第25回小児分子内分泌研究会 優秀演題賞

秋葉和壽　　日本人類遺伝学会第67回大会 大会最優秀ポスター賞

2021

英文論文

  1. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum. J Clin Endocrinol Metab. 2021; 106(3): 802-813
  2. Tamaoka S, Suzuki E, Hattori A, Ogata T, Fukami M, Katoh-Fukui Y. NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism. Hum Genome Var. 2021; 8(1): 5
  3. Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T, Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S. Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development. Am J Med Genet A. 2021; 185(4): 1067-1075
  4. Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review. Endocr J. 2021; 68(1): 111-117
  5. Shindo M, Tsumura H, Miyado K, Kang W, Kawano N, Yoshida T, Fukami M, Miyado M. Similar responsiveness between C57BL/6N and C57BL/6J mouse substrains to superovulation. MicroPubl Biol. 2021; 10.17912/micropub.biology.000375
  6. Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S. Inactivation of a frameshift TSH receptor variant Val711Phefs*18 is due to acquisition of a hydrophobic degron. J Clin Endocrinol Metab. 2021; 106(1): e265-e272
  7. Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner H. A novel GNAS duplication associated with loss-of-methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B). J Bone Miner Res. 2021; 36(3): 546-552
  8. Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, Amano N, Shima H, Hasegawa T, Nonoyama S. Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome. J Clin Immunol. 2021; 41: 709-711
  9. Suda K, Fukuoka H, Iguchi G, Kanie K, Fujita Y, Odake Y, Matsumoto R, Bando H, Ito H, Takahashi M, Chihara K, Nagai H, Narumi S, Hasegawa T, Ogawa W, Takahashi Y. A case of Luscan-Lumish syndrome: possible involvement of enhanced GH signaling. J Clin Endocrinol Metab. 2021; 106(3): 718-723
  10. Yakou F, Suwanai H, Ishikawa T, Itou M, Shikuma J, Miwa T, Sakai H, Kanekura K, Narumi S, Suzuki R, Odawara M. A novel homozygous mutation of thyroid peroxidase gene abolishes a disulfide bond leading to congenital hypothyroidism. Int J Endocrinol. 2020; 2020: 9132372
  11. Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clin Epigenetics. 2021; 13(1): 119
  12. Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. J Med Genet. 2021; 58(6): 427-432
  13. Masunaga Y, Kagami M, Kato F, Usui T, Yomemoto T, Mishima K, Fukami M, Aoto K, Saitsu H, Ogata T. Parthenogenic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia. Clin Epigenetics. 2021; 13(1): 73
  14. Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. J Hum Genet. 2021; 66(4): 439-443
  15. Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamono N, Fukami M, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with PMM2 mutations for congenital disorder of glycosylation. Endocr J. 2021; 68(5): 605-611
  16. Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia
  17. pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism. J Hum Genet. 2021; 66(2): 205-214
  18. Hakamata M, Hokari S, Ohshima Y, Kagami M, Saito S, Motoike IN, Abe T, Aoki N, Hayashi M, Watanabe S, Koya T, Kikuchi T. Chronic hypercapnic respiratory failure in an adult patient with Silver-Russell Syndrome. Intern Med. 2021; 60(12): 1921-1926
  19. Izawa M, Hisamatsu E, Yoshino K, Yoshida M, Sato T, Narumi S, Hasegawa T, Hamajima T. Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor. Clin Pediatr Endocrinol. 2021; 30(2): 99-104
  20. Shima H, Tokuhiro E, Okamoto S, Nagamori M, Ogata T, Narumi S, Nakamura A, Izumi Y, Jinno T, Suzuki E, Fukami M. SOX10 mutation screening for 117 patients with Kallmann Syndrome. J Endocr Soc. 2021; 5(7): bvab056
  21. Kawashima S, Hattori A, Suzuki E, Matsubara K, Toki M, Kosaki R, Hasegawa Y, Nakabayashi K, Fukami M, Kagami M. Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements. Clin Epigenetics. 2021; 13(1): 134
  22. Onuma S, Fukuoka T, Miyoshi Y, Fukui M, Satomura Y, Yasuda K, Kimura T, Tachibana M, Kazuhiko Bessho1, Yamamoto T, Tanaka H, Katsumata N, Fukami M, Hasegawa T, Ozono K. Two girls with a neonatal screening-negative 21-hydroxylase deficiency who required treatment with hydrocortisone for virilization in late childhood. Clin Pediatr Endocrinol. 2021; 30(3): 143-148
  23. Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, Namba N. A case of MIRAGE syndrome with familial dysautonomia-like symptoms. Hum Genome Var. 2021; 8(1): 27
  24. Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N. Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. J Hum Genet. 2021; 66(10): 1021-1027
  25. Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. J Hum Genet. 2021; 66(11): 1121-1126
  26. Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5. Clin Pediatr Endocrinol. 2021; 30(4): 179-185
  27. Ogiwara Y, Miyado M, Suzuki E, Niida S, Ozaki K, Fukami M. Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification. J Hum Genet. 2021; 66(12): 1181-1184
  28. Yoshida T, Matsumoto K, Miyado M, Miyashiro Y, Sago H, Horikawa R, Fukami M. Quantification of androgens and their precursors in full-term human placenta. Eur J Endocrinol. 2021; 185(5): K7-K11
  29. Igarashi M, Ayabe T, Yamamoto-Hanada K, Matsubara K, Sasaki H, Saito-Abe M, Sato M, Mise N, Ikegami A, Shimono M, Suga R, Ohga S, Sanefuji M, Oda M, Mitsubuchi H, Michikawa T, Yamazaki S, Nakayama S, Ohya Y, Fukami M. Female-dominant estrogen production in healthy young children before adrenarche. Endocr Connect. 2021; 10(10): 1221-1226
  30. Tanase-Nakao K, Kawai M, Wada K, Kagami M, Narumi S. Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant. Clin Pediatr Endocrinol. 2021; 30(4): 163-169
  31. Akiba K, Aso K, Hasegawa Y, Fukami M. Genome analyses and androgen quantification for infant with 5α-reductase type 2 deficiency. J Pediatr Endocrinol Metab. 2021; 34(9): 1191-1195
  32. Eguchi S, Ono R, Sato T, Yada K, Umehara N, Narumi S, Ichihashi Y, Nozaki T, Kanomata N, Hasegawa T, Ozawa M, Hasegawa D. Hereditary paraganglioma presenting with atypical symptoms: Case report. Medicine (Baltimore). 2021; 10046: e27888
  33. Miyagi T, Yamanaka Y, Harada Y, Narumi S, Hayamizu Y, Kuroda M, Kanekura K. An improved macromolecular crowding sensor CRONOS for detection of crowding changes in membrane-less organelles under stressed conditions. Biochem Biophys Res Commun. 2021; 583: 29-34
  34. Chen C, Yamanaka Y, Ueda K, Li P, Miyagi T, Harada Y, Tezuka S, Narumi S, Sugimoto M, Kuroda M, Hayamizu Y, Kanekura K. Phase separation and toxicity of C9orf72 poly(PR) depends on alternate distribution of arginine. J Cell Biol. 2021; 220(11): e202103160
  35. Itonaga T, Akiba K, Hasegawa Y. Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele. Clin Pediatr Endocrinol. 2021; 30(4): 187-193
  36. Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y, Fukami M. Role of Liquid-Liquid Separation in Endocrine and Living Cells. J Endocr Soc. 2021; 5(10): bvab126
  37. Miyado M, Fukami M, Ogata T. MAMLD1 and differences/disorders of sex development: An update. Sex Dev. 2021; 25: 1-12

受賞

原香織　　　　第43回 日本小児遺伝学会学術集会 大会長賞（信濃国賞）

吉田朋子　　　令和2年度東北大学総長賞

秋葉和壽　　　第54回 日本小児内分泌学会学術集会 若手優秀演題賞

小田野めぐみ　第54回 日本小児内分泌学会学術集会 若手優秀演題賞

鈴木江莉奈　　2021年度RMB優秀論文賞

成澤宏宗　　　第44回 日本小児遺伝学会学術集会 つながる2021合同学学術集会賞

原香織　　　　杉山記念財団 第3回SMF論文表彰制度奨励賞

中尾佳奈子　　第64回 日本甲状腺学会学術集会 第13回コスミック研究創成賞 最優秀

2020

英文論文

  1. Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenet. 2020; 12(1): 86
  2. Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M. Random X chromosome inactivation in patients with Klinefelter syndrome. Mol Cell Pediatr. 2020; 7(1): 1
  3. Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa R-S, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M. Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Sci Rep. 2020; 10(1): 10985
  4. Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T, Fukami M. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. Sci Rep. 2020; 10(1): 17375
  5. Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M, Fukami M. Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y. Reprod Med Biol. 2020; 19(2): 178-181
  6. Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M. Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. Clin Epigenet. 2020; 12(1): 111
  7. Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S, Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M. Genome‑wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. Clin Epigenetics. 2020; 12(1): 159
  8. Akiba K, Narumi S, Nishimura R, Katoh-Fukui Y, Takada S, Hasegawa Y, Fukami M. SOX9 is co-localized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins. Mol Repod Dev. 2020 [Epub ahead of print]
  9. Yoshida T, Saito K, Kawamura T, Ishikawa T, Kato T, Matsubara K, Miyasaka N, Miyado M, Fukami M. Circulating steroids and mood disorders in patients with polycystic ovary syndrome. Steroids. 2020; 165: 108748
  10. Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T. Human spermatogenesis tolerates massive size reduction of the pseudoautosomal region. Genome Biol Evol. 2020 [Epub ahead of print]
  11. Matsubara K, Yanagida K, Nagai T, Kagami M, Fukami M. De novo small supernumerary marker chromosomes arising from partial trisomy rescue. Front Genet. 2020; 11: 132
  12. Ushijima K, Okuno M, Ayabe T, Kikuchi N, Kawamura T, Urakami T, Yokota I, Amemiya S, Uchiyama T, Kikuchi T, Ogata T, Sugihara S, Fukami M, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabet Med. 2020; 37(12): 2131-2135
  13. Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group. Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. J Pediatr Endocrinol Metab. 2020; 33(10): 1335-1339
  14. Iwahashi-Odano M, Nagasaki K, Fukami M, Nishioka J, Yatsuga S, Asakura Y, Adachi M, Muroya K, Hasegawa T, Narumi S. Congenital hypothyroidism due to truncating PAX8 mutations: a case series and molecular function studies. J Clin Endocrinol Metab. 2020; 105(11): dgaa584
  15. Iwahashi-Odano M, Fujisawa Y, Ogata T, Nakashima S, Muramatsu M, Narumi S. Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia. Clin Pediatr Endocrinol. 2020; 29(4): 173-178
  16. Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T, Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S. Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development. Am J Med Genet A. 2020 accepted
  17. Akiba K, Ushijima K, Fukami M, Hasegawa Y. A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated, and adult-onset diabetes. Diabet Med. 2020; 37(10): 1772-1776
  18. Narumi S, Ohnuma T, Takehara K, Morisaki N, Urayama KY, Hattori T. Evaluating the seasonality of growth in infants using a mobile phone application. NPJ Digit Med. 2020; 3: 138
  19. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum. J Clin Endocrinol Metab. 2020 [Epub ahead of print]
  20. Yoshida M, Tanase-Nakao K (co-first author), Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. Br J Haematol. 2020 [Epub ahead of print]
  21. Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. IGF2 mutations: report of five cases, review of the literature, and comparison with H19/IGF2:IG-DMR epimutations. J Clin Endocrinol Metab. 2020; 105(1): 116-125
  22. Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. J Med Genet. 2020 [Epub ahead of print]
  23. Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T. Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. Clin Case Rep. 2020; 8(6): 1076-1080
  24. Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review. Endocr J. 2020 [Epub ahead of print]
  25. Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. J Hum Genet. 2020 [Epub ahead of print]
  26. Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts. Eur J Med Genet. 2020; 63(11): 104060
  27. Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamono N, Fukami M, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with PMM2 mutations for congenital disorder of glycosylation. Endocr J. 2020 [Epub ahead of print]
  28. Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. J Hum Genet. 2020; 65(2): 181-186
  29. Ishiwa S, Kamei K, Tanase-Nakao K, Shibata S, Matsunami K, Takeuchi I, Sato M, Ishikura K, Narumi S. A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: A case report. BMC Nephrol. 2020; 21(1): 340
  30. Nagasaki K, Takase K, Numakura C, Homma K, Hasegawa T, Fukami M. Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour. Hum Reprod. 2020; 35(11): 2609-2612
  31. Tatsumi T, Sampei M, Saito K, Honda Y, Okazaki Y, Arata N, Narumi K, Morisaki N, Ishikawa T, Narumi S. Age-dependent and seasonal changes in menstrual cycle length and body temperature based on big data. Obstet Gynecol. 2020; 136(4): 666-674
  32. Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S. Inactivation of a frameshift TSH receptor variant Val711Phefs*18 is due to acquisition of a hydrophobic degron. J Clin Endocrinol Metab. 2020 [Epub ahead of print]
  33. Sutani A, Shima H, Hijikata A, Hosokawa S, Katoh-Fukui Y, Takasawa K, Suzuki E, Doi S, Shirai T, Morio T, Fukami M, Kashimada K. WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. Eur J Med Genet. 2020; 63(1): 103626
  34. Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner H. A novel GNAS duplication associated with loss-of-methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B). J Bone Miner Res. 2020 [Epub ahead of print]
  35. Kawabe Y, Yamaguchi M, Miyagaki S, Ota T, Morimoto H, Hattori A, Fukami M, Mori J. 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: A case report. Clin Pediatr Endocrinol. 2020; 29(4): 189-193
  36. Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism. J Hum Genet. 2020 [Epub ahead of print]
  37. Saito-Abe M, Yamamoto-Hanada K, Nakayama SF, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y. Reference values for salivary cortisol in heathy young infants by LC-MS/MS. Pediatr Int. 2020; 62(7): 785-788
  38. Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T. Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report. Clin Pediatr Endocrinol. 2020; 29(4): 179-182
  39. Matsumoto R, Suga H, Aoi T, Bando H, Fukuoka H, Iguchi G, Narumi S, Hasegawa T, Muguruma K, Ogawa W, Takahashi Y. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. J Clin Invest. 2020; 130(2): 641-654
  40. Amano N, Kitoh H, Narumi S, Nishimura G, Hasegawa T. A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux. Clin Pediatr Endocrinol. 2020; 29(3): 99-103
  41. Yakou F, Suwanai H, Ishikawa T, Itou M, Shikuma J, Miwa T, Sakai H, Kanekura K, Narumi S, Suzuki R, Odawara M. A novel homozygous mutation of thyroid peroxidase gene abolishes a disulfide bond leading to congenital hypothyroidism. Int J Endocrinol. 2020; 2020: 9132372
  42. Suda K, Fukuoka H, Iguchi G, Kanie K, Fujita Y, Odake Y, Matsumoto R, Bando H, Ito H, Takahashi M, Chihara K, Nagai H, Narumi S, Hasegawa T, Ogawa W, Takahashi Y. A case of Luscan-Lumish syndrome: possible involvement of enhanced GH signaling. J Clin Endocrinol Metab. 2020 [Epub ahead of print]
  43. Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical characteristics of 57 patients with lipoid congenital adrenal hyperplasia in Japan: criteria of nonclassic form revisited. J Clin Endocrinol Metab. 2020; 105(11): dgaa557
  44. Kang W, Harada Y, Yamatoya K, Kawano N, Kanai S, Miyamoto Y, Nakamura A, Miyado M, Hayashi Y, Kuroki Y, Saito H, Iwao Y, Umezawa A, Miyado K. Extra-mitochondrial citrate synthase initiates calcium oscillation and suppresses age-dependent sperm dysfunction. Lab Invest. 2020; 100(4): 583-595
  45. Kamiya J, Kang W, Yoshida K, Takagi R, Kanai S, Hanai M, Nakamura A, Yamada M, Miyamoto Y, Miyado M, Kuroki Y, Hayashi Y, Umezawa A, Kawano N, Miyado K. Suppression of Non-Random Fertilization by MHC Class I Antigens. Int J Mol Sci. 2020; 21(22): E8731
  46. Kang W, Yamatoya K, Miyado K, Miyado M, Miyamoto Y. Neuronal expression of Ca2+ oscillation initiator is linked to rapid neonatal growth in mice. MicroPubl Biol. 2020 [Epub ahead of print]

受賞

宮戸真美, 深見真紀, 緒方勤　　第30回 バゾプレシン研究会 研究奨励賞

中尾佳奈子　　　　　　　　　第63回 日本甲状腺学会学術集会 ロシュ若手奨励賞

2019

英文論文

  1. Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. DNA methylation status of SHOX-flanking CpG islands in healthy individuals and short stature patients with pseudoautosomal copy-number variations. Cytogenet Genome Res. 2019; 158(2): 56-62
  2. Yoshida T, Miyado M, Mikami M, Suzuki E, Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M, Fukami M. Aneuploid rescue precedes X chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool. Hum Reprod. 2019; 34(9): 1762-1769
  3. Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M. (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Hum Genome Var. 2019; 6: 7
  4. Uehara E, Hattori A, Shima H, Ishiguro A, Abe Y, Ogata T, Ogawa E, Fukami M. Unbalanced Y;7 translocation between two low-similarity sequences leading to SRY-positive 45,X-testicular disorders of sex development. Cytogenet Genome Res. 2019; 158(3): 115-120
  5. Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Am J Med Genet A. 2019; 179(9): 1778-1782
  6. Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells. BMC Med Genomics. 2019; 12(1): 77
  7. Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M, Katoh-fukui Y. Frequency of common copy-numbervariations at 15q11.2-q13 in sperm of healthy men. Cytogenet Genome Res. 2019; 159(2): 66-73
  8. Tanase-Nakao K, Mizuno K, Hayashi Y, Kojima Y, Hara M, Matsumoto K, Matsubara Y, Igarashi M, Miyado M, Fukami M. Dihydrotestosterone induces minor transcription alterations in genital skin fibroblasts of children with and without androgen insensitivity. Endocr J. 2019; 66(4): 387-393
  9. Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. Clin Epigenetics. 2019; 11(1): 42
  10. Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M. Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. Clin Epigenetics. 2019; 11(1): 36
  11. Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T. Germline-derived gain-of-function variants of gsα-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis. J Am Soc Nephrol. 2019; 30(5): 877-889
  12. Miyado M, Fukami M. Losing maleness: Somatic Y chromosome loss at every stage of a man's life. FASEB Bioadv. 2019; 1(6): 350-352
  13. Iwahashi M, Narumi S. Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain. J Mol Endocrinol. 2019; 62(3): 129-135 14.
  14. Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M, Kawamura T, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatr Diabetes. 2019; 20(6): 712-719
  15. Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H. Endometrial preparation methods for frozen-thawed embryo transfer are associated with risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus. Hum Reprod. 2019; 34(8): 1567-1575
  16. Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H. Reply: Artificial cycle "per se" or the specific protocol of endometrial preparation as responsible for obstetric complications of frozen cycle? Hum Reprod. 2019; 34(12): 2554-2555
  17. Igarashi M, Nogawa S, Kawafune K, Hachiya T, Takahashi S, Jia H, Saito K, Kato H. Identification of the 12q24 locus associated with fish intake frequency by genome-wide meta-analysis in Japanese populations. Genes Nutr. 2019; 14: 21
  18. Naiki Y, Fukami M. Letters to the editor: "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline". J Clin Endocrinol Metab. 2019; 104(6): 1926-1927
  19. Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). Eur J Hum Genet. 2019; 27(12): 1845-1857
  20. Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Genetics of congenital isolated TSH deficiency: mutation screening of the known causative genes and a literature review. J Clin Endocrinol Metab. 2019; 104(12): 6229-6237
  21. Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I. A follow-up from infancy to puberty in a Japanese male with SRY -negative 46,XX testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1. Sex Dev. 2019; 13(2): 60-66
  22. Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development. Hum Mol Genet. 2019; 28(14): 2319-2329
  23. Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N, Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima T. Association of four imprinting disorders and ART. Clin Epigenetics. 2019; 11(1): 21
  24. Adachi M, Fukami M, Kagami M, Sho N, Yamazaki Y, Tanaka Y, Asakura Y, Hanakawa J, Muroya K. Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. J Pediatr Endocrinol Metab. 2019; 32(2): 191-196
  25. Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. Clin Dysmorphol. 2019; 28(1): 26-29
  26. Umino S, Kitamura M, Katoh-fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y. A rare case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. Mol Genet Genom Med. 2019; 7(6): e730
  27. Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, Shima H, Narumi S, Hasegawa Y. MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. Clin Pediatr Endocrinol. 2019; 28(4): 147-153
  28. Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T. A case report and literature review of monoallelic mutation of GHR. J Pediatr Endocrinol Metab. 2019; 32(4): 415-419
  29. Csillag B, Ilencikova D, Meissl M, Webersinke G, Laccone F, Narumi S, Haas O, Duba HC. Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. Pediatr Blood Cancer. 2019; 66(4): e27589
  30. Ishii T, Hori N, Amano N, Aya M, Shibata H, Katsumata N, Hasegawa T. Pubertal and adult testicular functions in nonclassic lipoid congenital adrenal hyperplasia: a case series and review. J Endocr Soc. 2019; 3(7): 1367-1374
  31. Sasaki K, Shiba K, Nakamura A, Kawano N, Satouh Y, Yamaguchi H, Morikawa M, Shibata D, Yanase R, Jokura K, Nomura M, Miyado M, Takada S, Ueno H, Nonaka S, Baba T, Ikawa M, Kikkawa M, Miyado K, Inaba K. Calaxin is required for cilia-driven determination of vertebrate laterality. Commun Biol. 2019; 2: 226
  32. Yoshii K, Matsumoto H, Hirasawa K, Sakauchi M, Hara H, Ito S, Osawa M, Fukami M, Horikawa R, Nagata S. Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. Respir Investig. 2019; 57(4): 395-398
  33. Aiba T, Saito T, Hayashi A, Sato S, Yunokawa H, Fukami M, Hayashi Y, Mizuno K, Sato Y, Kojima Y, Ohsako S. Exploring disease-specific methylated CpGs in human male genital abnormalities by using MSD-AFLP. J Reprod Dev. 2019; 65(6): 491-497
  34. Iwai M, Hamatani T, Nakamura A, Kawano N, Kanai S, Kang W, Yoshii N, Odawara Y, Yamada M, Miyamoto Y, Saito T, Saito H, Miyado M, Umezawa A, Miyado K, Tanaka M. Membrane protein CD9 is repositioned and released to enhance uterine function. Lab Invest. 2019; 99(2): 200-209


受賞

深見真紀　　　　　　　日本小児内分泌学会藤枝賞 (Kenji Fujieda Prize)

鳴海覚志　　　　　　　第1回 慶應医学賞 ライジング・スター賞

鳴海覚志　　　　　　　第53回 日本小児内分泌学会学術集会 最優秀演題賞

小田野（岩橋）めぐみ　第23回 小児分子内分泌研究会 優秀演題賞

小田野（岩橋）めぐみ　2019年 東京慈恵会医科大学小児科学講座研究奨励賞

中尾佳奈子　　　　　　第53回 日本小児内分泌学会学術集会 若手優秀演題賞

2018

英文論文

  1. Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M. Somatically acquired idic(Y) and mosaic loss of chromosome Y in a boy with hypospadias. Cytogenet Genome Res. 2018; 154(3): 122-125
  2. Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018; 19(2): 243-250
  3. Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M. STX2 is a causative gene for non-obstructive azoospermia. Hum Mutat. 2018; [in press]
  4. Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M. An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. Hum Genome Var. 2018; 5: 18006
  5. Kawasima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S. Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Maternal uniparental disomy for chromosome 20: physical and endocrinological characteristics of five patient. J Clin Endocrinol Metab. 2018; 103(6): 2083-2088
  6. Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S,Fukami M. (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Human Genome Variation. 2018; [in press]
  7. Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. DNA methylation status of SHOX-flanking CpG islands in healthy individuals and short stature patients with pseudoautosomal copy-number variations. Cytogenet Genome Res. 2018; [Epub ahead of print]
  8. Ogata H, Ihara H, Gito M, Sayama M, Murakami N, Ayabe T, Oto Y, Nagai T, Shimoda K. Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. Res Dev Disabil. 2018; 73: 126-134
  9. Yoshida K, Kang W, Nakamura A, Kawano N, Hanai M, Miyado M, Miyamoto Y, Iwai M, Hamatani T, Saito H, Miyado K, Umezawa A. Ubiquitin-activating enzyme E1 inhibitor PYR-41 retards sperm enlargement after fusion to the egg. Reprod Toxicol. 2018; 76: 71-77
  10. Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. Am J Med Genet A. 2018; 176(1): 139-143
  11. Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, OgataT. (Epi)genotype-phenotype analysis in 69 Japanese patients with pseudohypoparathyroidism Type I. J Endocr Soc. 2017; 2(1): 9-23
  12. Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S. Two patients with MIRAGE syndrome lacking haematologic features: Role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018; 55(2): 81-85
  13. Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M. A severely short-statured girl with 47,XX,+14/46,XX,upd(14)mat, mosaicism. J Hum Genet. 2018; 63(3): 377-381
  14. Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H. Nodular lymphocyte-predominant hodgkin lymphoma in a 15-year-old boy with Li-Fraumeni syndrome having a germline TP53 D49H mutation. J Pediatr Hematol Oncol. 2018; 40(3): e195-e197
  15. Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J. Effectiveness of sodium-glucose cotransporter-2 Inhibitor as an add-on drug to GLP-1 receptor agonists for glycemic control of a patient with Prader-Willi syndrome: a case report. Diabetes Ther. 2018; 9(1): 421-426
  16. Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Nathan Mise, Kayama F, Saito H, Ohya Y. Regional difference of infant 25OHD levels in pilot study of Japan Environment and Children's Study. Pediatr Int. [Epub ahead of print]
  17. Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2018; 65(1)
  18. Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. Clin Case Rep. 2017; 6(1): 91-95
  19. Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018; 55(8): 567-570
  20. Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A. 2018; 176: 415-420
  21. Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson TS. Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv. 2018; 2: 120-125
  22. Mora JRH, Tayama C, Sánchez-Delgado M, Monteagudo-Sánchez A, Hata K, Ogata T, Medrano J, Eugenia Poo-Llanill M, Simón C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K. Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. Epigenomics. 2018; 10(7): 941-954
  23. Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. Eur J Hum Genet. 2018; 26(8): 1113-1120
  24. Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Molecular diagnosis of 34 Japanese families with Leber Congenital Amaurosis using targeted Next-generation sequencing. Sci Rep. 2018; 8(1): 8279
  25. Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M. GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. Asian J Androl. 2018; 20(6): 629-631
  26. Tanase-Nakao K, Miyata I, Terauchi A, Saito M, Wada S, Hasegawa T, Narumi S. Fetal goitrous hypothyroidism and polyhydramnios in a patient with compound heterozygous DUOXA2 mutations. Horm Res Paediatr. 2018; 90(2): 132-137
  27. Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M. 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome. Endocr J. 2018; 65(10): 979-990
  28. Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2018; pii: jmedgenet-2018-105463
  29. Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018; 63(12): 1277-1281
  30. Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. Clin Pediatr Endocrinol. 2018; 27(3): 123-130
  31. Tomonaga K, Tahara K, Watanabe T, Ohno M, Ogawa K, Kutsukake M, Fujino A, Hishiki T, Kinjyo K, Horikawa R, Katsumata N, Kanamori Y. A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor. J Pediatr Surg Case Rep. 2018; 38: 50-52.
  32. Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K, Kojima Y. Expression of xenobiotic biomarkers CYP1 family in preputial tissue of patients with hypospadias and phimosis and its association with DNA methylation level of SRD5A2 minimal promoter. Arch Environ Contam Toxicol. 2018; 74(2): 240-247
  33. Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. Eur J Endocrinol. 2018; 178(2): 137-144
  34. Iwai M, Hamatani T, Nakamura A, Kawano N, Kanai S, Kang W, Yoshii N, Odawara Y, Yamada M, Miyamoto Y, Saito T, Saito H, Miyado M, Umezawa A, Miyado K, Tanaka M. Membrane protein CD9 is repositioned and released to enhance uterine function. Lab Invest. 2018; [Epub ahead of print]
  35. Nakamura A, Kawano N, Motomura K, Kuroda A, Sekiguchi K, Miyado M, Kang W, Miyamoto Y, Hanai M, Iwai M, Yamada M, Hamatani T, Saito T, Saito H, Tanaka M, Umezawa A, Miyado K. Degradation of phosphate polymer polyP enhances lactic fermentation in mice. Genes Cells. 2018; 23(10): 904-914
  36. Kang W, Ishida E, Yamatoya K, Nakamura A, Miyado M, Miyamoto Y, Iwai M, Tatsumi K, Saito T, Saito K, Kawano N, Hamatani T, Umezawa A, Miyado K, Saito H. Autophagy-disrupted LC3 abundance leads to death of supporting cells of human oocytes. Biochem Biophys Rep. 2018; 15: 107-114
  37. Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. Clin Dysmorphol. 2019; 28(1): 26-29
  38. Kimura T, Kagami M, Matsubara K, Yatsuga S, Mukasa R, Yatsuga C, Matsumoto T, Koga Y. Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. Clin Case Rep. 2018; [accepted]
  39. Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018; 63: 1277-1281
  40. Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood. 2018; 132: 2309-2313
  41. Narumi S, Matsubara K, Ishii T, Hasegawa T. Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature. Clin Pediatr Endocrinol. 2018; 27: 235-238
  42. Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS ONE. 2018; 13: e0206184
  43. Katoh-Fukui Y, Baba T, Sato T, Otake H, Nagakui-Noguchi Y, Shindo M, Suyama M, Ohkawa Y, Tsumura H, Morohashi KI, Fukami M. Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bones. Bone. 2018; 120: 219-231
  44. Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T. GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. Clin Case Rep. 2018; 6(11): 2229-2233
  45. Naiki Y, Fukami M. Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". J. Clin Endocrinol Metab. 2018 [Epub ahead of print]
  46. Iwai M, Harada Y, Miyabayashi R, Kang W, Nakamura A, Kawano N, Miyamoto Y, Yamada M, Hamatani T, Miyado M, Yoshida K, Saito H, Tanaka M, Umezawa A, Miyado K. Chemotactic behavior of egg mitochondria in response to sperm fusion in mice. Heliyon. 2018; 4(11): e00944

受賞

深見真紀　　　第18回小児医学川野賞

鏡雅代　　　　日本小児科学会学術研究賞

島彦仁　　　　東北大学総長賞

岩橋めぐみ　　第34回甲状腺病態生理研究会研究奨励賞

　　　　　　　第23回小児内分泌専門セミナーベストプレゼンテーション賞

　　　　　　　第61回日本甲状腺学会学術集会 若手奨励賞

井上毅信　　　平成30年度東京大学小児科同窓会研究奨励賞

牛嶋規久美　　第52回日本小児内分泌学会学術集会 若手優秀演題賞

中尾佳奈子　　第52回日本小児内分泌学会学術集会 若手優秀演題賞

2017


英文論文

  1. Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M , Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T. Paradoxical gain-of-function mutant of the G-protein coupled receptor PROKR2 promotes early puberty. J Cell Mol Med. 2017; 21(10): 2623-2626
  2. Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. 2017; 19(12): 1356-1366
  3. Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M. A novel C-terminal truncating NR5A1 mutation in dizygotic twins. Hum Genome Variat. 2017; 4: 17008
  4. Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. Endocr J. 2017; 64(8): 813-817
  5. Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics. 2017; 9:52
  6. Miyado M, Yoshida K, Miyado K, Katsumi M, Saito K, Nakamura S, Ogata T, Fukami M. Knockout of murine Mamld1 impairs testicular growth and daily sperm production but permits normal postnatal androgen production and fertility. Int J Mol Sci. 2017; 18(6): pii: E1300
  7. Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi, K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Next-generation sequencing-based mutation screening of 86 patients with idiopathic short stature. Endocr J. 2017; 64(10): 947-954
  8. Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M. Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. Andrology. 2017; 5(4): 824-831
  9. Ohtaka K, Fujisawa Y, Takada F, Hasegawa Y, Miyoshi T, Hasegawa T, Miyoshi H, Kameda H, Seo MK, Fukami M, Ogata T. FGFR1 analyses in four patients with hypogonadotropic hypogonadism with split-hand/foot malformation: implications for the promoter region. Hum Mutat. 2017; 38(5): 503-506
  10. Saito K, Miyado K, Yamatoya K, Kuwahara A, Inoue E, Miyado M, Fukami M, Ishikawa T, Saito T, Kubota T, Saito H. Increased incidence of post-term delivery and Cesarean section after frozen-thawed embryo transfer during a hormone replacement cycle. J Assist Reprod Genet. 2017; 34(4): 465-470
  11. Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). FUT2 non-secretor status is associated with type 1 diabetes susceptibility in Japanese children. Diabet Med. 2017; 34(4): 586-589
  12. Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Am J Med Genet A. 2017; 173(4): 1071-1076
  13. Yamatoya K, Saito K, Saito T, Kang W, Nakamura A, Miyado M, Kawano N, Miyamoto Y, Umezawa A, Miyado K, Saito H. Birth weights and Down syndrome in neonates that were delivered after frozen-thawed embryo transfer: The 2007-2012 Japan Society of Obstetrics and Gynecology National Registry data in Japan. Reprod Med Biol. 2017; 16(2): 228-234
  14. Miyado K, Kang W, Yamatoya K, Hanai M, Nakamura A, Mori T, Miyado M, Kawano N. Exosomes versus microexosomes: Shared components but distinct functions. J Plant Res. 2017; 130(3): 479-483
  15. Katsumata N. Standardization of growth hormone and insulin-like growth factor-I measurements. Pediatr Endocrinol Rev. 2017; 14(Suppl 1): 209-215
  16. Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, Izumi T, Narumi S, Hasegawa T, Ihara K. Three-quarters adrenalectomy for infantile-onset cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome. Horm Res Paediatr. 2017; 88(3-4): 285-290
  17. Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T. Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX. Hum Genome Var. 2017; 4: 17012
  18. Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H. Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. J Hum Genet. 2017; 62(10): 919-922
  19. Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T. De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly. Hum Mutat. 2017; 38(8): 953-958
  20. Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol. 2017; 177(2): 187-194
  21. Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S. Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. Endocr J. 2017; 64(8): 807-812
  22. Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y. The first Japanese case of central precocious puberty with a novel MKRN3 mutation. Hum Genome Var. 2017; 18; 4: 17017
  23. Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M. Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome. Am J Med Genet A. 2017; 173(10): 2847-2850
  24. Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M. A de novo 50-bp GNAS (Gs-alpha) intragenic duplication in a patient with pseudohypoparathyroidism type 1a. Cytogenet Genome Res. 2017; 153(3): 125-130
  25. Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H. Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. Eur J Med Genet. 2017； 60(12): 635-638
  26. Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T. Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity. Endocr J. 2017; 64(11): 1087-1097
  27. Saito K, Miyado M, Fukami M, Ono I, Sumori K. Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen-thawed embryo transfer. Reprod Med Biol. 2017; 17(1): 89-92
  28. Yoshii K, Naiki Y, Terada Y, Fukami M, Horikawa R. Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome. Endocr J. 2018; 65(2): 221-225
  29. Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Chad A Shaw, Kagami M, Hara T, Ohga S. Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet. 2017; 18(1): 117
  30. Takasawa K, Gau M, Sutani A, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K. Phenotypic variation in 46,XX disorders of sex development due to the NR5A1 p.R92W variant: a sibling case report and literature review. Sex Dev. 2017; 11(5-6): 284-288

受賞

鈴木江莉奈　　　第50回日本小児内分泌学会学術集会 最高得点抄録演題賞

五十嵐麻希　　　第39回日本小児遺伝学会学術集会 優秀演題賞

島彦仁　　　　　第39回日本小児遺伝学会学術集会 優秀演題賞

服部淳　　　　　第21回小児分子内分泌研究会 優秀演題賞

鳴海覚志　　　　第13回日本甲状腺学会 基礎医学研究助成受賞

鳴海覚志　　　　第27回日本人類遺伝学会 奨励賞

2016

英文論文

  1. Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara N, Ogata T, *Fukami M. Copy-number variations of the azoospermia factor region or SRY are not associated with the risk of hypospadias. Sexual Development. 2016; 10(1): 12-15
  2. Okuno M、Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T, Sugihara S, *Fukami M . Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age. Clinical Pediatric Endocrinology. 2016; 25(3): 99-102
  3. Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, *Fukami M. Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome. Journal of Steroid Biochemistry and Molecular Biology. 2016; 158: 31-37
  4. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, *Fukami M. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. Journal of Human Genetics. 2016; 61(7): 585-591
  5. Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, *Fukami M. Blood allopregnanolone levels in women with polycystic ovary syndrome. Clinical Endocrinology. 2016; 85(1): 151-152
  6. Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, *Fukami M. Complex genomic rearrangement within the GNAS region associated with familial pseudohypoparathyroidism type 1b. The Journal of Clinical Endocrinology and Metabolism. 2016; 101(7): 2623-2627
  7. Ayabe T, *Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Ihara K, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S. Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21. Diabetic Medicine. 2016; 33(12): 1717-1722
  8. *Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, *Ogata T. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genetics in Medicine. 2016; [Epub ahead of print]
  9. Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, *Fukami M. NR0B1 frameshift mutation in a boy clinically diagnosed with idiopathic central precocious puberty. Sexual Development. 2016; 10(4): 205-209
  10. Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, *Fukami M. Complex X-chromosomal rearrangements in two women with ovarian dysfunction: Implications for chromothripsis/chromoanasynthesis-dependent and -independent origins of complex genomic alterations. Cytogenetic and Genome Research. 2016; [Epub ahead of print]
  11. Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, *Fukami M. Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues. Human Mutation. 2016; [Epub ahead of print]
  12. Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, *Fukami M. The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biology of Sex Differences. 2016; 7: 56
  13. Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, *Fukami M. Xp22.31 microdeletion due to microhomology-mediated break-induced replication in a boy with contiguous gene deletion syndrome. Cytogenetic and Genome Research. 2016; [accepted]
  14. *Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI. Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus. Reproduction. 2016; 153(2): 187-195
  15. Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, *Fukami M, Sugihara S. Mutations in CD101, the human homolog of diabetes susceptibility gene in nonobese diabetic mouse, in patients with type 1 diabetes. Journal of Diabetes Investigation. 2016; [Epub ahead of print]
  16. *Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M. Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia. Endocrine Journal. 2016; 63(10): 897-904
  17. *Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska11, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Kagami M, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Ogata T, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, Irène Netchine. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nature Reviews Endocrinology. 2016; 13(2): 105-124
  18. Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, *Hasegawa T. A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity. Clinical Endocrinology (Oxf). 2016; 85(4): 669-671
  19. Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Muroya K, *Ogata T. Long-term clinical course in three patients with MAMLD1 mutations. Endocrine Journal. 2016; 63(9): 835-839
  20. Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, *Rappold GA. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Molecular Medicine. 2016; 8(12): 1455-1469
  21. Goto M, *Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. Pediatrics International. 2016; 58(11): 1229-1231
  22. Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, *Sato S. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediatr Endocrinol. 2016; 25: 127-134
  23. Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, *Ogata T. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. American Journal of Medical Genetics A. 2017; 173(1): 157-162
  24. *Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood Adolescent Diabetes (JSGIT). FUT2 nonsecretor status links Type 1 diabetes susceptibility in Japanese children. Diabetic Medicine. 2016; [Epub ahead of print]
  25. Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, *Ogata T. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat. Clinical Genetics. 2016; 89(5): 614-619
  26. Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, *Ogata T. Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma. Journal of Steroid Biochemistry and Molecular Biology. 2016; 159: 86-93
  27. *Omokawa M, Ayabe T, Nagai T, Imanishi A, Omokawa A, Nishino S, Sagawa Y, Shimizu T, Takashi Kanbayashi T. Decline of CSF Orexin (Hypocretin) levels in Prader-Willi Syndrome. American Journal of Medical Genetics A. 2016; 170A(5): 1181-1186
  28. *Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto Y, Koga Y, Sakuta R. Pyruvate improved the insulin secretion status in a mitochondrial diabetes mellitus patient. The Journal of Clinical Endocrinology and Metabolism. 2016; 101(5): 1924-1926
  29. *Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M, Takeuchi Y. Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. European Journal of Endocrinology. 2016; 174(4): 453-463
  30. Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, *Ogata T. Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects. Journal of Human Genetics. 2016; 61(8): 765-769
  31. Ho-Ming Luk, Fai-Man Ivan Lo, Sano S, Matsubara K, Nakamura A, *Ogata T, *Kagami M. Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. American Journal of Medical Genetics A. 2016; 170(7): 1938-1941
  32. *Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, *Hasegawa T. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature Genetics. 2016; 48(7): 792-797
  33. Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, *Azuma N. Genotype-phenotype correlation of PAX6 gene mutations in aniridia. Human Genome Variation. 2016; 3: 15052
  34. Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, *Hasegawa T. Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites. Clinical Pediatric Endocrinology. 2016; 25(2): 37-44
  35. Goto M, *Kagami M, Nishimura G, Yamagata T. A patient with Temple Syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. American Journal of Medical Genetics A. 2016; 170(9): 2483-2485

受賞

鈴木江莉奈　　　第50回日本小児内分泌学会学術集会 最高得点抄録演題賞受賞

五十嵐麻希　　　第39回日本小児遺伝学会学術集会 優秀演題賞受賞

島彦仁　　　　　第39回日本小児遺伝学会学術集会 優秀演題賞受賞

2015

英文論文

  1. Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, *Fukami M. SOX3 overdosage permits normal sex development in females with random X inactivation. Sexual Development. 2015; 9(3): 125-129
  2. Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, *Fukami M. Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Human Reproduction. 2015; 30(3): 499-506
  3. Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, *Fukami M. Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. Molecular Genetics & Genomic Medicine. 2015; 3(6): 550-557
  4. Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, *Fukami M, Naiki Y. Loss-of-function SOX10 mutation in a patient with Kallmann syndrome, hearing loss, and iris hypopigmentation. Hormone Research in Pediatrics. 2015; 84(3): 212-216.
  5. *Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. Journal of Human Genetics. 2015; 60(9): 553-556
  6. Miyado M, Miyado K, Katsumi M, Saito K, Nakamura A, Shihara D, Ogata T, *Fukami M. Parturition failure in mice lacking Mamld1. Scientific Reports. 2015; 5: 14705
  7. Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, *Ogata T. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). European Journal of Human Genetics. 2015; 23: 1488-1498
  8. *Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B. A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis. Sexual Development. 2015; 9(2): 80-85
  9. Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, *Ogata T. Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocrine Journal. 2015; 62(6): 523-529
  10. *Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y. Fertility preservation in a family with a novel NR5A1 mutation. Endocrine Journal. 2015; 62(3): 289-295
  11. Okuno M, Ogata T, Nakabayashi K, Urakami T, *Fukami M, Nagasaki K. Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q, and Xp. Human Genome Variation. 2015; 2: 15020
  12. *Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M. Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. Diabetic Medicine. 2015; 32(7): 963-967
  13. *Watanabe T, Go H, Kagami M, Yasuda S, Nomura Y, Fujimori K. Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome. Journal of Obstetrics and Gynaecology Research. 2015; 41(7): 1133-1136
  14. *Suzumori N, Kagami M, Kumagai K, Goto S, Matsubara K, Sano S, Sugiura-Ogasawara M. Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14. American Journal of Medical Genetics A. 2015; 167A(10): 2474-2477
  15. Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, *Yamazawa K. Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. Clinical Epigenetics. 2015; 7: 90
  16. Tonoike A, Hori Y, Inoue-Murayama M, Konno A, Fujita K, Miyado M, Fukami M, Nagasawa M, *Mogi K, Kikusui T. Copy number variations in the amylase gene AMY2B in Japanese native dog breeds. Animal Genetics. 2015; 46: 580-583
  17. Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, *Ogata T. Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9. American Journal of Medical Genetics A. 2015; 167A(12): 3226-3228
  18. Gito M, *Ihara H, Ogata H, Sayama M, Murakami N, Nagai T, Ayabe T, Oto Y, Shimoda K. Gender differences in the behavioral symptom severity of Prader-Willi Syndrome. Behavioural Neurology. 2015; 2015: 294127
  19. *Yeşiltepe Mutlu G, Kırmızıbekmez H, Nakamura A, Fukami M, Hatun Ş. A novel de novo GATA binding protein 3 mutation in a Turkish boy with hypoparathyroidism, deafness, and renal dysplasia syndrome. Journal of Clinical Research in Pediatric Endocrinology. 2015; 7(4): 344-348
  20. Kon M, *Fukami M. Submicroscopic copy-number variations associated with 46,XY disorders of sex development. Molecular and Cellular Pediatrics. 2015; 2(1): 7
  21. Kon M, *Fukami M. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Uro today. 2015

2014

英文論文

  1. Fukami M, Suzuki J, Nakabayashi K, Tsunasima R, Ogata T, Shozu M, Noguchi S. Lack of Genomic Rearrangements Involving the Aromatase Gene CYP19A1 in Breast Cancer. Breast Cancer. 21(3):382-385, 2014
  2. Shihara D, Miyado M, Nakabayashi K, Shozu M, Ogata T, Nagasaki K, Fukami M. Aromatase excess syndrome in a family with upstream deletion of CYP19A1. Clinical Endocrinology. 81(2):314-316, 2014
  3. Tsuchiya T, Shibata M, Numabe H, Jinno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of Langer mesomelic dysplasia. American Journal of Medical Genetics Part A. 164A(2):505-510, 2014
  4. Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Long term follow up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. American Journal of Medical Genetics Part A. 164A(3):731-735, 2014
  5. Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M. De Novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency. Hormone Research in Paediatrics. 81(2):139-144, 2014
  6. Saito R, Yamamoto Y, Goto M, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K, Igarashi M, Fukami M. Tamoxifen Treatment for Pubertal Gynecomastia in Two Siblings with Partial Androgen Insensitivity Syndrome. Hormone Research in Paediatrics. 81(3):211-216, 2014
  7. Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clinical Endocrinology. 80(5):706-713, 2014
  8. Abe Y, Nagasaki K, Watababe T, Abe T, Fukami M. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. Hormone Research in Paediatrics. 2014 [Epub ahead of print]
  9. Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y. TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia. PLOS ONE. 9(3):e91598, 2014
  10. Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N. Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder. Endocrine Journal. 61(6):629-633, 2014
  11. Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. Journal of Human Genetics. 59(6):353-356, 2014
  12. Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertility and Sterility. 102(4):1130-1136, 2014
  13. Inui M, Miyado M, Igarashi M, Tamano M, Kubo A, Yamashita S, Asahara H, Fukami M, Takada S. Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 system. Scientific Reports. 4:5396, 2014
  14. Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T. Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. Journal of Human Genetics. 2014 [Epub ahead of print]
  15. Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M ,Ogata T. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype. European Journal of Human Genetics. 2014 in press
  16. Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation. Endocrine. 2014 in press
  17. Nagata E, Hiroki Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K-I, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. Orphanet Journal of Rare Diseases. 9:125, 2014
  18. Nakashima S, Kato F, Kosho T, Nagasaki K, Kikuchi T, Kagami M, Fukami M, Ogata T. Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. Journal of Human Genetics. 2014 in press
  19. Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M. Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients. Human Reproduction. 2014 [Epub ahead of print]
  20. Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M. Copy-Number Variations in Y Chromosomal Azoospermia Factor Regions Identified by Multiplex Ligation-Dependent Probe Amplification. Journal of Human Genetics. 2014 [Epub ahead of print]
  21. Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M. Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias. Sexual Development. 2014 [Epub ahead of print]
  22. Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Toshihiko Yanase T. Prognosis in patients with primary aldosteronism in Japan: results from a nationwide epidemiological study. Endocrine Journal. 61(1):35-40, 2014
  23. Yoshizawa-Ogasawara A, Katsumata N, Horikawa R, Satoh M, Urakami T, Tanaka T. Third-generation aromatase inhibitor Improved adult height in a Japanese boy with testotoxicosis. Clinical Pediatric Endocrinology. 23(2): 53-58, 2014
  24. Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S. Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids. Clinical Endocrinology (Oxford). 80(6):782-789, 2014
  25. Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. American Journal of Medical Genetics Part A. 164A(4):993-997, 2014
  26. Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. Genetics in Medicine 16(12):903-912, 2014
  27. Kawano N, Miyado K, Yoshii N, Kanai S, Saito H, Miyado M, Inagaki N, Odawara Y, Hamatani T, Umezawa A. Absence of CD9 reduces endometrial VEGF secretion and impairs uterine repair after parturition. Scientific Reports. 4:4701, 2014
  28. Igarashi M, Hippo Y, Ochiai M, Fukuda H, Nakagama H. Akt is critically involved in cooperation between obesity and the dietary carcinogen amino-1-methyl-6-phenylimidazo [4,5-b] (PhIP) in rats. Biochemical and Biophysical Research Communications. 17(443):852-857, 2014
  29. Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M. SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. Sexual Development. 2015 [Epub ahead of print]
  30. Fukami M, Miyado M, Nagasaki K, Shozu M, Ogata T. Aromatase excess syndrome: A rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. Pediatric Endocrinology Reviews. 11(3):298-305, 2014
  31. Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M. Skeletal deformity associated with SHOX deficiency. Clinical Pediatric Endocrinology. 23(3):65-72, 2014
  32. Shozu M, Fukami M, Ogata T. Understanding the pathological manifestations of aromatase excess syndrome: lessons for the clinic. Expert Review of Endocrinology and Metabolism. 2014
  33. Fukami M, Ogata T. Cytochrome P450 oxidoreductase deficiency. Pediatrics International. 2014 in press

受賞

深見真紀　　　日本小児科学会学術研究賞

松原圭子　　　2014 Pediatric Academic Societies-Japan Pediatric Society医師交換プログラム

綾部匡之　　　第24回臨床内分泌代謝Update 優秀ポスター賞

宮戸真美　　　第18回小児分子内分泌研究会優秀演題賞

2013

英文論文

  1. Nagasaki K, Tsuchiya S, Saitoh A, Ogata T, Fukami M. Neuromuscular Symptoms in a Patient with Familial Pseudohypoparathyroidism Type Ib Diagnosed by Methylation-Specific Multiplex Ligation-Dependent Probe Amplification. Endocrine Journal. 60(2):231-236, 2013
  2. Ayabe T, Matsubara K. Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M. Birth Seasonality in Prader-Willi Syndrome Resulting from Chromosome 15 Microdeletion. American Journal of Medical Genetics Part A. 161(6):1495-1497, 2013
  3. Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T. A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. Endocrine Journal. 60(7):855-859, 2013
  4. Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. Endocrine Journal. 60(8):1013-1020, 2013
  5. Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K. Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis. The FASEB Journal. 27(8):3198-3208, 2013
  6. Hayashi M, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H. A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. The Tohoku Journal of Experimental Medicine. 231(2):75-84, 2013
  7. Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M. Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. PLOS ONE. 8(7):e68194, 2013
  8. Fukami M, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Burger H, Simpson ER, Umezawa A, Shihara D, Nakabayashi K, Bulun SE, Shozu M, Ogata T. Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression. The Journal of Clinical Endocrinology and Metabolism. 98(12):E2013-2021, 2013
  9. Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T. Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. Endocrine Journal. 60(12):1329-1334, 2013
  10. Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, Ikeda S, Tanaka T, Hanafusa T, Kitajima H, Kohno H, Nakagawa M, Nakamura Y, Ueno S. Triple A syndrome in Japan. Muscle & Nerve. 48(3):381-386, 2013
  11. Sasaki A, Sumie M, Wada S, Kosaki R, Kurosawa K, Fukami M, Sago H, Ogata T, Kagami M. Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype. American Journal of Medical Genetics Part A. 164A(1):264-266, 2013
  12. Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T. Molecular and clinical studies in 138 Japanese patients with silver-russell syndrome. PLOS ONE. 8(3):e60105, 2013
  13. Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient. Clinical Genetics. 86(6):539-544, 2013
  14. Katoh M, Igarashi M, Fukuda H, Nakagama H, Katoh M. Cancer genetics and genomics of human.FOX family genes. Cancer Letters. 328:198-206, 2013
  15. Miyabayashi K, Katoh-Fukui Y, Ogawa H, Baba T, Shima Y, Sugiyama N, Kitamura K, Morohashi K. Aristaless related homeobox gene, Arx, is implicated in mouse fetal Leydig cell differentiation possibly through expressing in the progenitor cells. PLOS ONE. 8:e68050, 2013
  16. Fukami M, Homma K, Hasegawa T, Ogata T. Backdoor pathway for Dihydrotestosterone Biosynthesis: Implications for normal and abnormal human sex development. Developmental Dynamics. 242(4):320-329, 2013

受賞

鏡雅代　　　　第17回小児分子内分泌研究会 優秀演題賞

松原圭子　　　第47回日本小児内分泌学会 優秀演題賞

宮戸真美　　　ノボノルディスク成長・発達研究賞2013
　　　　　　　第18回日本生殖内分泌学会学術奨励賞

2012

英文論文

  1. Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J, Pinto G, manouvrier S, Polak M, Ogata T, Sultan C. Screening of MAMLD1 mutations in 70 children with 46, XY DSD : identification and functional analysis of two new mutations . PLoS One. 7(3):e32505, 2012
  2. Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Hasegawa T, Murata M. Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11β-Hydroxyandrosterone. Clin Chem. 58(4):741-747, 2012
  3. Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T. Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet A. 158A(7):1529-1534, 2012
  4. Ogata T, Fukami M, Yoshida R, Nagata E, Fujisawa Y, Yoshida A, Yoshimura Y. Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure. J Hum Genet. 57(7):449-452, 2012
  5. Qin XY, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Zaha H, Akanuma H, Zeng Q, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T, Sone H. Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients. PLoS One. 7(5):e36711, 2012
  6. Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T. Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations. Epigenetics. 7(10):1142-1150, 2012
  7. Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, Ogata T. Mamld1 Deficiency Significantly Reduces mRNA Expression Levels of Multiple Genes Expressed in Mouse Fetal Leydig Cells but Permits Normal Genital and Reproductive Development. Endocrinology. 153(12):6033-6040, 2012
  8. Qin XY, Sone H, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Hisada A, Zaha H, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T. Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients. PLoS One. 7(12):e52756,2012
  9. Ikemoto S, Sakurai K, Kuwashima N, Saito Y, Miyata I, Katsumata N, Ida H. A case of Allgrove syndrome with a novel IVS7+1G>A mutation of the AAAS gene. Clin Pediatr Endocrinool. 21(1):11-13, 2012
  10. Isojima T, Shimatsu A, Yokoya S, Chihara K, Tanaka T, Hizuka N, Teramoto A, Tatsumi KI, Tachibana K, Katsumata N, Horikawa R. Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method. Endocr J. 59(9):771-780, 2012
  11. Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T: Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet.20 (9): 928-932, 2012
  12. Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T: Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hum Reprod. 27 (8): 2541-2548, 2012
  13. Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz JM, Deladoëy J, Samuels M, Ogata T, Deal C. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Clin Genet. 82(6):505-513, 2012
  14. Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T. A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. Am J Med Genet A. 58A(1):261-264, 2012
  15. Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M. Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. Am J Med Genet A. 158A(3):630-634, 2012
  16. Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. J Clin Endocrinol Metab. 97(9):E1808-1813, 2012
  17. Suzuki J, Fukuda M, Nagasaki K, Fujii Y. A Pineal Region Germ Cell Tumor with Rapid Enlargement After a Long-term Follow-up. Neurosurgery. 2012 [Epub ahead of print]
  18. Suzuki J, Takahashi S. Subcutaneous Emphysema and Pneumomediastinum due to Carbon Dioxide Laser Therapy. J Pediatr .161(1):167, 2012
  19. Ohnami N, Nakamura A, Miyado M, Sato M, Kawano N, Yoshida K, Harada Y, Takezawa Y, Kanai S, Ono C, Takahashi Y, Kimura K, Shida T, Miyado K, Umezawa A. CD81 and CD9 work independently as extracellular components upon fusion of sperm and oocyte. Biol Open. 1 (7): 640-647, 2012
  20. Katoh-Fukui Y, Miyabayashi K, Komatsu T, Owaki A, Baba T, Shima Y, Kidokoro T, Kanai Y, Schedl A, Wilhelm D, Koopman P, Okuno Y, Morohashi K. Cbx2, a polycomb group gene, is required for Sry gene expression in mice. Endocrinology. 153 (2): 913-924, 2012
  21. Fukami M, Shozu M,Ogata T. Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome. Int J Endocrinol.584807,2012
  22. Fukami M.A Commentary on Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. J Hum Genet.57: 405-406,2012
  23. Ogata T, Sano S, Nagata E, Kato F, Fukami M. MAMLD1 and 46,XY Disorders of Sex Development. Semin Reprod Med. 30: 410-416, 2012
  24. Katsumata N. Genetic defects in pregnenolone synthesis. Pediatr Endocrinol Rev 10(Suppl 1):98-109, 2012.

受賞

鏡雅代　　　第35回日本小児遺伝学会優秀演題賞

松原圭子　　第35回日本小児遺伝学会優秀演題賞

長崎啓祐　　第16回小児分子内分泌研究会優秀演題賞

2011

英文論文

  1. al Kandari H, Katsumata N, al Alwan I, al Balwi M, Rasoul MA. Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations. Horm Res Paediatr 76(3):165-171, 2011.
  2. Katsumata N, Ishiguro A, Watanabe H. Fabry disease superimposed on overt autoimmune hypothyroidism. Clin Pediatr Endocrinool 20(4):95-98, 2011.
  3. Ogata T, Matsubara K, Nagata E, Sano S, Murakami N, Nagai T: Advanced maternal age and the development of Prader-Willi syndrome resulting from upd(15)mat through non-disjunction at meiosis 1. J Mamm Ova Res 28 (3): 96-102, 2011.
  4. Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K: Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. Clin Endocrinol 74 (2): 223-233, 2011.
  5. Yamazawa K, Nakabayashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T: Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes. J Hum Genet 56 (1): 91-93, 2011.
  6. Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K: Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. J Clin Endocrinol Metab 96 (2): E373-378, 2011.
  7. Fukami M, Muroya K, Miyake T, Iso M, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T: GATA3 abnormalities in six patients with HDR syndrome. Endocr J 58 (2): 117-121, 2011.
  8. Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T: Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis. Endocr J 58 (3): 155-159, 2011
  9. Brandão MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB. MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female. Adv Exp Med Biol 707 (10):129-31, 2011.
  10. Fukami, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T: Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants. J Clin Endocrinol Metab 96 (6): E1035-1043, 2011.
  11. Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T: Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. PLoS ONE 6 (4): e19123, 2011.
  12. Matsubara K, Murakami N, Nagai T, Ogata T: Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet 56 (8): 566-71, 2011.
  13. Nakabayashi K, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, David Monk D: Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes. Hum Mol Genet 20 (16): 3188-97, 2011.
  14. Inoue H, Sakamoto Y, Kangawa N, Kimura C, Ogata T, Fujieda K, Qian, ZR, SanoT, Itakura M. Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene: roles of epigenetic modifications in transcriptional regulation. Mol Cell Endocrinol 345: 1-15, 2011.
  15. Soneda S, Yazawa T, Fukami M, Adachi M, Mizota M, Fujieda K, Miyamoto K, Ogata T: Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site. J Clin Endocrinol Metab 96 (11): E1881-1887, 2011.
  16. Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K: Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. Clin Endocrinol 2012 ;76(1):78-87.
  17. Ishizuka B, Okamoto N, Hamada N, Sugishita Y, Saito J, Takahashi N, Ogata T, Itoh MT. Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency. Fertil Steril 2011;96(5):1170-4.
  18. Ayabe T, Ishizuka B, Maruyama T, Uchida H, Yoshimura Y, Yoshida R, Fukami M, Nagai T, Ogata T: Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients. Sex Dev 2011;5(5):235-40
  19. Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Béroud C, Guys JM, Reynaud R, Alessandrini P, Wagner K, Bréaud J, Valla JS, Morisson Lacombe G, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C: Polymorphisms of MAMLD1 gene in hypospadias. J Pediatr Uro 2011; 7(6):5
  20. Miyazaki O, Nishimura G, Kagami M, Ogata T. Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14. Pediatric Radiology. 41:1013-1019, 2011.
  21. Takezawa Y, Yoshida K, Miyado K, Sato M, Nakamura A, Kawano N, Sakakibara K, Kondo T, Harada Y, Ohnami N, Kanai S, Miyado M, Saito H, Takahashi Y, Akutsu H, Umezawa A. Beta-catenin is a molecular switch that regulates transition of cell-cell adhesion to fusion. Scientific Reports 1: Article 68, 2011.
  22. Nakamura A, Miyado K, Takezawa Y, Ohnami N, Sato M, Ono C, Harada Y, Yoshida K, Kawano N, Kanai S, Miyado M, Umezawa A. Innate immune system still works at diapause, a physiological state of dormancy in insects. Biochem Biophys Res Commun 410 (2): 351-357, 2011.
  23. Ogata T*, Matsubara K: Steroid 5a-reductase-2 deficiency and fertility. Fertil Steril 95 (7): e46.

受賞

深見真紀　　第34回日本小児遺伝学会優秀演題賞

鏡雅代　　　第34回日本小児遺伝学会優秀演題賞

　　　　　　旭川医科大学医学部医学科同窓会第11回医学奨励賞

曽根田瞬　　第34回日本小児遺伝学会優秀演題賞

松原圭子　　ノボノルディスク成長・発達研究賞2011

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