国立研究開発法人 国立成育医療研究センター National Center for Child Health and Development

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Scholar & Enterprise

Scholar & Enterprise

Department of Molecular Endocrinology

Our objective is to clarify the molecular basis of congenital endocrine-related disorders and apply our findings to innovations in clinical medicine. We investigate the molecular basis of single gene disorders, epigenetic/imprinting disorders, chromosomal rearrangements, and multifactorial disorders by using various molecular technologies including next-generation sequencing, array-based comparative genomic hybridization, multiplex ligation-dependent probe amplification, and pyrosequencing.

We also undertake numerous national and international collaborative studies. To date, we have collected more than 8,000 clinical samples from various countries.


Target diseases

Single gene disorders

We aim to identify novel genes that play a role in the development of congenital malformation syndromes and endocrine-related disorders. We are also involved in developing new diagnostic tools, assessing current therapies, and establishing new therapeutic methods. Our major research targets include disorders of sex development (DSD), pituitary hormone deficiency, disorders of sexual maturation, thyroid diseases, growth disorders, and adrenal dysfunction.

Epigenetic/imprinting disorders

We investigate the underlying mechanisms and phenotypic determinants of imprinting disorders and analyze the possible association between methylation defects and environmental factors. Current research topics in our department include the molecular and clinical characterization of Kagami-Ogata syndrome and Silver-Russell syndrome.

Multifactorial disorders

We aim to identify genetic polymorphisms involved in susceptibility to diseases and responses to environmental factors. Our subjects include patients with childhood-onset diabetes, polycystic ovary syndrome, short stature, azoospermia, and several other conditions..


Members

Leaders

  • Maki Fukami(Head of Department of Molecular Endocrinology)
  • Masayo Kagami(Chief of Clinical Endocrine Research Division)
  • Satoshi Narumi(Chief of Basic Endocrine Research Division)

Senior Researchers

Researchers

  • Kazuhisa Akiba
  • Atsushi Hattori
  • Sayaka Kawashima
  • Kanako Nakao
  • Tomoko Yoshida
  • Kaori Hara
  • Yasuko Ogiwara
  • Satoshi Tamaoka
  • Kei Yoshida
  • Erina Suzuki

Research Assistants

  • Tomoko Jinno
  • Saori Miyasako
  • Aki Ueda
  • Ikuko Kageyama
  • Tamae Tanji
  • Satoko Chiba
  • Mayuko Akiyama

Guest Laboratory Head

  • Tsutomu Ogata

Research Collaborators

  • Maki Igarashi
  • Akie Nakamura
  • Kazuki Saito
  • Takanobu Inoue
  • Kikumi Ushijima
  • Megumi Iwahashi-Odano

Bibliography

2019

  1. 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):191-6.
  2. 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 methylated-site display-amplified fragment length polymorphism (MSD-AFLP). J Reprod Dev. 2019;65(6):491-7.
  3. 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. 2019.
  4. 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.
  5. 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):26-9.
  6. 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: bioinformatics consideration. Hum Mol Genet. 2019;28(14):2319-29.
  7. 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.
  8. 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.
  9. 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.
  10. 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. 2019;56(6):413-8.
  11. 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):1367-74.
  12. Iwahashi M, Narumi S. Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain. J Mol Endocrinol. 2019;62(3):129-35.
  13. 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):200-9.
  14. 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.
  15. 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. 2019;120:219-31.
  16. 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. 2019;7(1):15-8.
  17. Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M, Katoh-Fukui Y. Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men. Cytogenet Genome Res. 2019;159(2):66-73.
  18. 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.
  19. 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):415-9.
  20. Miyado M, Fukami M. Losing maleness: Somatic Y chromosome loss at every stage of a man's life. FASEB Bioadv. 2019;1(6):350-2.
  21. 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):877-89.
  22. Miyado M, Kang W, Kawano N, Miyado K. Microexosomes versus exosomes: Shared components but distinct structures. Regen Ther. 2019;11:31-3.
  23. Natori T, Narumi S, Suzuki T, Sato M, Tsuda K, Kamada A, Yoshida M, Oi K, Suzuki Y, Terayama Y. An Anatomical Variation in the Cervical Carotid Artery of a Young Stroke Patient. Intern Med. 2019;58(1):123-6.
  24. 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.
  25. 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):1778-82.
  26. 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):2554-5.
  27. 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 altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus. Hum Reprod. 2019;34(8):1567-75.
  28. 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):60-6.
  29. 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.
  30. 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):6229-37.
  31. 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.
  32. Tanase-Nakao K, Mizuno K, Hayashi Y, Kojima Y, Hara M, Matsumoto K, Matsubara Y, Igarashi M, Miyado M, Fukami M. Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity. Endocr J. 2019;66(4):387-93.
  33. 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):115-20.
  34. Umino S, Kitamura M, Katoh-Fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y. A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. Mol Genet Genomic Med. 2019;7(6):e730.
  35. Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M, Kawamura T. KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatr Diabetes. 2019;20(6):712-9.
  36. 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. Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabet Med. 2019.
  37. 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):1845-57.
  38. 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):1762-9.
  39. 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):395-8.
  40. 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):147-53.

2018

  1. 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):137-44.
  2. 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, Mise N, Kayama F, Saito H, Ohya Y. Regional differences in infant 25-Hydroxyvitamin D: Pilot study of the Japan Environment and Children's Study. Pediatr Int. 2018;60(1):30-4.
  3. Fukami M. Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. EBioMedicine. 2018;37:29-30.
  4. Fukami M, Kurahashi H. Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events. Methods Mol Biol. 2018;1769:21-33.
  5. Fukami M, Suzuki E, Igarashi M, Miyado M, Ogata T. Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders. Clin Endocrinol (Oxf). 2018;88(3):351-9.
  6. 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. 2018;6(1):91-5.
  7. Hernandez Mora JR, Tayama C, Sanchez-Delgado M, Monteagudo-Sanchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simon 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):941-54.
  8. Higuchi S, Takagi M, Takeda R, Yoshihashi H, Narumi S, Hasegawa T. An association with hypopituitarism and 9q subtelomere deletion syndrome. Clin Case Rep. 2018;6(12):2371-5.
  9. 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):421-6.
  10. 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.
  11. 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):629-31.
  12. 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.
  13. 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(2):415-20.
  14. 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;15:107-14.
  15. 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.
  16. Katsumata N. Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurement. Pediatr Endocrinol Rev. 2018;16(Suppl 1):28-32.
  17. Kawashima 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 Patients. J Clin Endocrinol Metab. 2018;103(6):2083-8.
  18. Matsubara K, Kagami M, Fukami M. Uniparental disomy as a cause of pediatric endocrine disorders. Clin Pediatr Endocrinol. 2018;27(3):113-21.
  19. Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M. Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias. Cytogenet Genome Res. 2018;154(3):122-5.
  20. 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):1113-20.
  21. 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(21):2309-13.
  22. 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.
  23. 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):904-14.
  24. 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):567-70.
  25. 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 nonobstructive azoospermia. Hum Mutat. 2018;39(6):830-3.
  26. Narumi S. Rare monogenic causes of primary adrenal insufficiency. Curr Opin Endocrinol Diabetes Obes. 2018;25(3):172-7.
  27. Narumi S, Hasegawa T. [Association between SAMD9/SAMD9L and hematological malignancies]. Rinsho Ketsueki. 2018;59(11):2475-80.
  28. 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(4):235-8.
  29. 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;73:126-34.
  30. 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):240-7.
  31. Saito K, Fukami M, Miyado M, Ono I, Sumori K. Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen-thawed embryo transfer. Reprod Med Biol. 2018;17(1):89-92.
  32. Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T. (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I. J Endocr Soc. 2018;2(1):9-23.
  33. 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(2):120-5.
  34. 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(11):e0206184.
  35. Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Juhlen R, Schuelke M, Mohnike K, Huebner A, Narumi S. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018;55(2):81-5.
  36. 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):2229-33.
  37. 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):123-30.
  38. 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):1277-81.
  39. 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):132-7.
  40. 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;38:50-2.
  41. 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, Japanese Study Group of Insulin Therapy for C, Adolescent D. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018;19(2):243-50.
  42. 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):377-81.
  43. 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).
  44. 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-e7.
  45. 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):139-43.
  46. 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;76:71-7.
  47. 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):979-90.
  48. 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):221-5.

2017

  1. 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):187-94.
  2. 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):919-22.
  3. Fukami M, Miyado M. Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Ann Pediatr Endocrinol Metab. 2017;22(2):90-4.
  4. Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T. Catastrophic cellular events leading to complex chromosomal rearrangements in the germline. Clin Genet. 2017;91(5):653-60.
  5. 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):2623-6.
  6. 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):947-54.
  7. 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 Var. 2017;4:17008.
  8. 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. Hum Mutat. 2017;38(1):39-42.
  9. 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 C, Adolescent D. FUT2 non-secretor status is associated with Type 1 diabetes susceptibility in Japanese children. Diabet Med. 2017;34(4):586-9.
  10. 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.
  11. 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):2847-50.
  12. 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):285-90.
  13. 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. Genet Med. 2017;19(4):476-82.
  14. 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):1356-66.
  15. Katsumata N. Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurements. Pediatr Endocrinol Rev. 2017;14 Suppl 1(Suppl 1):209-15.
  16. 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):479-83.
  17. 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. 2017;153(2):187-95.
  18. 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).
  19. Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami MJC, research g. Xp22. 31 microdeletion due to microhomology-mediated break-induced replication in a boy with contiguous gene deletion syndrome. 2017;151(1):1-4.
  20. 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):824-31.
  21. 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):1087-97.
  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;4:17017.
  23. Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M. Mutation analysis of FGFR1‐3 in 11 Japanese patients with syndromic craniosynostoses. American Journal of Medical Genetics A. 2017;173(1):157-62.
  24. Ohtaka K, Fujisawa Y, Takada F, Hasegawa Y, Miyoshi T, Hasegawa T, Miyoshi H, Kameda H, Kurokawa-Seo M, 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):503-6.
  25. 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 . Nucleotide substitutions in CD 101, the human homolog of a diabetes susceptibility gene in non‐obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig 2017;8(3):286-94.
  26. 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):465-70.
  27. 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):813-7.
  28. 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):807-12.
  29. Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M. A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. Cytogenet Genome Res. 2017;153(3):125-30.
  30. Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet. 2017;18(1):117.
  31. 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):1071-6.
  32. 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.
  33. Takasawa K, 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):284-8.
  34. 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):635-8.
  35. Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Gronskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tumer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13(2):105-24.
  36. Yamatoya K, Saito K, Saito T, Kang W, Nakamura A, Miyado M, Kawano N, Miyamoto Y, Umezawa A, Miyado K, Saito H. Birthweights 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):228-34.
  37. 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):953-8.

2016

  1. Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Ihara K, Takemoto K, Mukai T. 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):1717-22.
  2. Fukami M, Seki A, Ogata T. SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature. Molecular syndromology. 2016;7(1):3-11.
  3. 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):835-9.
  4. 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. The Journal of steroid biochemistry and molecular biology. 2016;159:86-93.
  5. 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 Part A. 2016;170(9):2483.
  6. Goto M, Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K. Sporadic pseudohypoparathyroidism type‐1b with asymptomatic hypocalcemia. Pediatrics International. 2016;58(11):1229-31.
  7. Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto Y-i, Koga Y, Sakuta R. Pyruvate improved insulin secretion status in a mitochondrial diabetes mellitus patient. The Journal of Clinical Endocrinology & Metabolism. 2016;101(5):1924-6.
  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;19(4):476.
  9. 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 and SRY Are Not Associated with the Risk of Hypospadias. Sexual Development. 2016;10(1):12-5.
  10. 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.
  11. Luk HM, Ivan Lo FM, 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 Part A. 2016;170(7):1938-41.
  12. 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):453-63.
  13. 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):614-9.
  14. 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. Clinical Pediatric Endocrinology. 2016;25(4):127-34.
  15. Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano 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(1):56.
  16. Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke‐Otto S, Binder G, Ogata T, Decker E, Nuernberg G. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO molecular medicine. 2016;8(12):1455-69.
  17. 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.
  18. Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T. Complex genomic rearrangement within the GNAS region associated with familial pseudohypoparathyroidism type 1b. The Journal of Clinical Endocrinology & Metabolism. 2016;101(7):2623-7.
  19. Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature genetics. 2016;48(7):792.
  20. Ogata T, Kagami M. Kagami–Ogata syndrome: a clinically recognizable upd (14) pat and related disorder affecting the chromosome 14q32. 2 imprinted region. Journal of human genetics. 2016;61(2):87.
  21. Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S. 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.
  22. Omokawa M, Ayabe T, Nagai T, Imanishi A, Omokawa A, Nishino S, Sagawa Y, Shimizu T, Kanbayashi T. Decline of CSF orexin (hypocretin) levels in Prader–Willi syndrome. American Journal of Medical Genetics Part A. 2016;170(5):1181-6.
  23. Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T. Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome. The Journal of steroid biochemistry and molecular biology. 2016;158:31-7.
  24. 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):151-2.
  25. 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 imprinting disturbance: a female-dominant phenomenon? Journal of human genetics. 2016;61(8):765.
  26. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis. Journal of human genetics. 2016;61(7):585.
  27. Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y. NR0B1 frameshift mutation in a boy with idiopathic central precocious puberty. Sexual Development. 2016;10(4):205-9.
  28. 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 of Chromothripsis/Chromoanasynthesis-Dependent and-Independent Origins of Complex Genomic Alterations. Cytogenetic and genome research. 2016;150(2):86-92.
  29. 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. 2016;85(4):669-71.
  30. 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.