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

代表: 03-3416-0181 / 予約センター(病院): 03-5494-7300
〈月~金曜日(祝祭日を除く)9時〜17時〉

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研究者・企業の方へ Scholar & Enterprise

研究者・企業の方へ Scholar & Enterprise

分子内分泌研究部

研究部紹介

胎児期から生殖年齢期までの内分泌疾患、成長障害、および先天奇形症候群を主な対象として、分子遺伝学的・臨床的解析を行っています。これにより、新たな疾患発症機序の解明、臨床像や予後の解明、現行の治療法の効果の判定、迅速かつ正確な診断法の確立、新しい治療法の開発を目指しています。
内分泌(ホルモン分泌)機構の異常は、成長障害、性分化疾患、性成熟異常、先天奇形症候群、生殖機能障害などさまざまな疾患を招きます。これらの疾患の発症機序には未解明の点が多く、有効な診断法や治療法が確立されていない疾患が多く存在します。分子内分泌研究部では、国内外の臨床医や研究者と連携し、内分泌疾患の臨床的および分子遺伝学的研究を行っています。
私たちの研究の目的は、新規疾患発症遺伝子の発見、疾患成立機序の解明、疾患重症化因子の解明、診断法や治療法の開発などを介して、よりよい医療の実現と健全な次世代の育成に貢献することです。

○研究部問い合わせ窓口

深見 真紀
深見真紀のメールアドレスの画像

○臨床検体の遺伝子解析について

分子内分泌研究部では、研究の一環として性分化疾患、成長障害、性成熟疾患、カルシウム異常症などの遺伝子診断を行っています。研究の詳細や検体受け入れの可否については、主治医から下記メールアドレスに問い合わせ下さい。
問い合わせ先のメールアドレスの画像

研究内容

  1. 単一遺伝子疾患研究:性分化・性成熟疾患、成長障害、先天奇形症候群などを対象として、新規疾患成立機序の解明、既知責任遺伝子の遺伝子型-表現型による臨床像の決定、重症度修飾因子の解明、現行の治療法の効果判定、新たな治療法の開発を目指しています。
  2. インプリンティング疾患・エピジェネティクス疾患研究:14番染色体ダイソミー症候群やシルバーラッセル症候群など、ヒトインプリンティング疾患の疾患成立機序の解明とそれに基づく治療法の開発、疾患重症度決定因子の解明を行っています。また、生殖補助医療におけるインプリンティング異常発症リスクの評価を行っています。
  3. 多因子疾患研究:小児期発症1型糖尿病、多嚢胞性卵巣症候群を含むさまざまな内分泌疾患、先天奇形症候群の発症に関与する環境因子、感受性多型の同定を行っています。
  4. 医療・社会への貢献:効率的遺伝子診断技術の提供、日本人患者の臨床データの集積、小児難治性疾患における診断・治療指針の作成などを通じて、社会に貢献しています。
さらに、以下の共同研究を行っています。
  • 臨床検体の集積:国内外の80以上の医療機関と連携し、さまざまな疾患の臨床検体を集積しています。これらの検体のゲノム・エピゲノム解析により新たな疾患発症機序を解明します。

  • 遺伝子診断システムの構築:全国の研究施設、医療機関、NPO法人等と連携し、持続可能な遺伝子解析技術提供を目指した基盤づくりに取り組んでいます。

  • 遺伝子機能の解明:国内外の基礎研究者と連携して、成育疾患発症に関与する遺伝子相互作用の解明を行っています。

スタッフ

分子内分泌研究部

臨床内分泌研究室

基礎内分泌研究室

部室員

  • 福井 由宇子(特任研究員)
  • 勝又 規行(上級研究員)
  • 松原 圭子(上級研究員)
  • 宮戸 真美(上級研究員)
  • 綾部 匡之(研究員)
  • 五十嵐 麻希(研究員)
  • 奥野 美佐子(研究員)
  • 秋葉 和壽(研究員)
  • 島 彦仁(研究員)
  • 浅田 礼光(研究員)
  • 中村 明枝(研究員)
  • 服部 淳(大学院生)
  • 斎藤 和毅(大学院生)
  • 井上 毅信(大学院生)
  • 牛嶋 規久美(大学院生)
  • 岩橋 めぐみ(大学院生)
  • 川嶋 明香(大学院生)
  • 中尾 佳奈子(大学院生)
  • 吉田 朋子(大学院生)
  • 原 香織(大学院生)
  • 大串 健一郎(大学院生)
  • 鈴木 江莉奈(研究補助員)
  • 神野 智子(研究補助員)
  • 三代川 温子(研究補助者)
  • 宮迫 さおり(研究補助者)
  • 五十嵐 暁子(事務補助者)
  • 千葉 聡子(事務補助者)
  • 秋山 真由子(事務補助者)

業績

2017

  1. 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 19(4): 476-482, 2017
  2. 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 38(1): 39–34, 2017
  3. 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. Cytogenet Genome Res 151(1): 1-4, 2017
  4. 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 CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig 8(3): 286-294, 2017
  5. 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. Am J Med Genet A. 173(1): 157–162, 2017
  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. 19;18(6), 2017
  7. 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 2(1):9-23, 2017
  8. 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 6(1):91-95, 2017
  9. 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 64(11):1087-1097, 2017
  10. 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 17(1):89-92, 2017
  11. 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 18(1):117, 2017
  12. 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 Sex Dev 11(5-6):284-288, 2017
  13. 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. 173(10): 2847-2850. 2017
  14. Suzuki E , Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M. De Novo 50-bp GNAS (Gs-alpha) Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. Cytogenet Genome Res. 153(3):125-130, 2017
  15. 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 65(1), 2017
  16. 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 60(12):635-638, 2017
  17. Fukami M , Miyado M. Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Ann Pediatr Endocrinol Metab. 22(2):90-94. 2017
  18. 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. 19(12):1356-1366, 2017
  19. Katsumata N . Standardization of growth hormone and insulin-like growth factor-I measurements. Pediatr Endocrinol Rev 14(Suppl 1):209-215, 2017
  20. 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. 30;64(8):813-817, 2017
  21. 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 9:52, 2017
  22. 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 18(6):pii:E1300, 2017
  23. 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 64(10):947-954, 2017
  24. 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. 19(2):243-250, 2017
  25. 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 5(4): 824-831, 2017
  26. 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 88(3-4):285-290, 2017
  27. 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 4:17012, 2017
  28. Yamamoto-Hanada K, Limin Yang, Ishitsuka K, Ayabe T, Mezawa H, Konishi M, Shoda T, Matsumoto K, Saito H, Ohya Y. Allergic Profiles of Mothers and Fathers in the Japan Environment and Children's Study (JECS): a nationwide birth cohort study. World Allergy Organ J 10(1):24, 2017
  29. 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 62(10):919-922, 2017
  30. 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. 38(8):953-958, 2017
  31. 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 177:187-194, 2017
  32. 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 64(8):807-812, 2017
  33. 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. 18;4:17017, 2017.
  34. 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. 21(10): 2623-2626, 2017
  35. Hattori A , Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T,Katoh-Fukui Y, Fukami M. A novel C-terminally truncating NR5A1 mutation in dizygotic twins Hum Genome Variat. 4:17008, 2017
  36. 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. 2 38(5): 503-506, 2017
  37. 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. 34(4):465-470. 2017
  38. 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 34(4):586-589, 2017
  39. 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 173(4):1071-1076, 2017
  40. 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 delivered after frozenthawed embryo transfer: The 2007-2012 national registry data in Japan. Reprod Med Biol 16(2):228-234, 2017
  41. 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 130(3):479-483, 2017
  42. 深見真紀  XII. 内分泌・代謝検査 5.性腺機能検査 テストステロン・ジヒドロテストステロン. 小児内科特集号 2017
  43. 深見真紀 (編集) SHOX異常症-基礎から最新知見まで- 緒方勤 監修、神崎晋・深見真紀 編集 診断と治療社 2017

2016

  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
  36. Fukami M, Seki A, Ogata T. SHOX haploinsufficiency as a cause of syndromic and non-syndromic short stature. Molecular Syndromology. 2016; 7(1): 3-11
  37. Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T. Catastrophic cellular events leading to complex chromosomal rearrangements in the germline. Clinical Genetics. 2016; [Epub ahead of print]
  38. Kagami M, Ogata T. 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): 87-94
  39. 鳴海覚志, 天野直子, 石井智弘, 長谷川奉延. SAMD9遺伝子の変異は新規の疾患であるMIRAGE症候群をひき起こし第7染色体の欠失に関与する ライフサイエンス 新着論文レビュー 2016; DOI: 10.7875
  40. 齊藤和毅, 深見真紀. 多嚢胞性卵巣症候群患者のステロイド代謝 日本生殖内分泌学会学会誌 21巻 2016
  41. 綾部匡之. エコチル調査~現在と未来の子どもたちのために~ 第8回詳細調査で分かること(内分泌学的検査) チャイルドヘルス 診断と治療社 2016; 19: 606-607
  42. 綾部匡之, 永井敏郎. プラダー・ウィリ症候群をもつ子ども達への関わり方 小児保健研究 日本小児医事出版社 2016; 75: 312-317
  43. 鏡雅代. Kagami-Ogata症候群 小児科診療 診断と治療社 2016; 79: 1771-1776

2015

  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
  22. 深見真紀. 小眼球・無眼球 松原洋一,呉繁夫,佐合治彦編集 子どもの病気 遺伝について聞かれたら 診断と治療社 2015
  23. 深見真紀. 停留精巣とホルモン環境 小児外科 2015; 47(8)
  24. 松原圭子. 生殖補助医療と高齢出産 小児科臨床 日本小児医事出版社 2015; 68(7): 1325-1330
  25. 綾部匡之. 【体格と子どもの健康】染色体異常 小児内科 2015; 47: 1340-1345
  26. 綾部匡之, 村上信行, 永井敏郎. 小児期・思春期の成長ホルモン補充療法はプラダー・ウィリ症候群の糖尿病発症頻度を低下させる 日本内分泌学会雑誌 2015; 91 suppl: 55-57
  27. 宮戸真美, 宮戸健二, 緒方勤, 深見真紀. MAMLD1:胎生期精巣におけるステロイドホルモン産生の新規調節因子 日本生殖内分泌学会雑誌 2015; 20: 19-23
  28. 綾部匡之. 【先天異常症候群】Prader-Willi症候群 小児内科 2015; 47: 1773-1778
  29. 深見真紀. Sohval-Soffer症候群 小児科診療増刊号 小児の症候群 2015; 79
  30. 深見真紀. Turner症候群 小児疾患診療のための病態生理2 2015
  31. 緒方勤, 深見真紀. 遺伝子解析と遺伝カウンセリング 産婦人科の実際 2015; 64(10): 1301-1307
  32. 綾部匡之, 松原洋一. プラダー・ウィリ(Prader-Willi)症候群 難治性内分泌代謝疾患Update 診断と治療社 2015; 35-37
  33. 鏡雅代. 14番染色体インプリンティング異常症:Kagami-Ogata症候群、Temple症候群小児疾患診療のための病態生理2 2015
  34. 鏡雅代. 14番染色体インプリンティング異常症:Kagami-Ogata症候群、Temple症候群, 小児内科2015; 47: 1739-174綾部匡之. 病因と病態 その他の糖尿病 (その他) 日本糖尿病学会/日本小児内分泌学会編 小児・思春期糖尿病管理の手びき改訂第4版:コンセンサスガイドライン 南江堂 2015; 31-36
  35. 松原圭子, 鏡雅代, 水野誠司. 新生児期・乳児期に筋緊張低下をきたすインプリンティング異常症. ネオタイルケア メディカ出版 2015; 28(5): 54-56
  36. 五十嵐麻希, 宮戸真美, 和田友香, 中村美智子, 緒方勤, 深見真紀. MAMLD1遺伝子異常と尿道下裂 ホルモンと臨床 特集 小児内分泌学の進歩2014 医学の世界社 2015; 59(971)-63(975)
  37. 深見真紀. 子どもの身体の発達 滝口俊子 編集 子育て支援のための保育カウンセリング ミネルヴァ書房 2015
  38. 深見真紀. 内分泌疾患のジェネテックス 日本小児内分泌学会編集 小児内分泌学 診断と治療社 2015
  39. 深見真紀. 月経の異常 日本小児内分泌学会編集 小児内分泌学 診断と治療社 2015
  40. 深見真紀. 男性女性化乳房 日本小児内分泌学会編集 小児内分泌学 診断と治療社 2015
  41. 鏡雅代. 遺伝学的検査 日本小児内分泌学会編集 小児内分泌学 診断と治療社 2015