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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、生殖機能障害および先天奇形症候群を主な対象として、ゲノム・エピゲノム解析と臨床的解析を行っています。これにより、疾患発症機序の解明、臨床像や予後の解明、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。

研究部問い合わせ窓口

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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。
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体制

基礎内分泌研究室と臨床内分泌研究室が連携し、染色体異常症、単一遺伝子疾患、インプリンティング疾患、および多因子疾患観点から研究に取り組んでいます。国立成育医療研究センター病院、国内外の医療機関および研究機関と連携しています。

研究内容

  1. 単一遺伝子疾患研究

    臨床検体の網羅的変異解析を通じて、成育疾患の疾患成立機序の解明、疾患重症度決定因子の同定、新たな診断法と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研究

    インプリンティング疾患の病態の解明と発症機序の解明、診療ガイドラインの策定を行っています。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、多嚢胞性卵巣症候を含むさまざまな成育疾患の発症に関与する環境因子と感受性多型の同定を行っています。

  4. 医療・社会への貢献

    遺伝子診断技術の提供、日本人患者データベース作成、治療指針の作成などを通じて、社会に貢献しています。

  5. 人材育成

    全国から大学院生や若手研究者を受け入れ、将来の成育疾患研究を担う人材を育成しています。

共同研究

  1. 臨床検体バンキング

    国内外の80以上の医療機関と連携し、8000以上の成育疾患の臨床検体を集積しています。

  2. 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。

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

  • 緒方 勤（客員部長）

  • 福井 由宇子（特任研究員）
  • 服部 淳（研究員）
  • 中尾 佳奈子（研究員）
  • 勝又 規行（リサーチアソシエイト）
  • 秋葉 和壽（リサーチアソシエイト）
  • 成澤 宏宗（リサーチアソシエイト）
  • 荻原 康子（大学院生）
  • 玉岡 哲（大学院生）
  • 上原 絵理香（大学院生）
  • 浦川 立貴（大学院生）
  • 村西 雄貴（大学院生）
  • 植田 亜季（研究補助員）
  • 影山 郁子（研究補助員）
  • 鈴木 江莉奈（研究補助員）
  • 宮迫 さおり（研究補助員）
  • 秋山 真由子（事務補助員）
  • 山﨑 久美（事務補助員）
  • 五十嵐 麻希（施設外共同研究員）
  • 井上 毅信（施設外共同研究員）
  • 牛嶋 規久美（施設外共同研究員）
  • 小田野 めぐみ（施設外共同研究員）
  • 川嶋 明香（施設外共同研究員）
  • 島 彦仁（施設外共同研究員）
  • 末岡 秀文（施設外共同研究員）
  • 丹治 玉江（施設外共同研究員）
  • 張 若谷（施設外共同研究員）
  • 中川 竜一（施設外共同研究員）
  • 中島 萌子（施設外共同研究員）
  • 中村 明枝（施設外共同研究員）
  • 鳴海 宏子（施設外共同研究員）
  • 原 香織（施設外共同研究員）
  • 福家 智子（施設外共同研究員）
  • 宮戸 真美（施設外共同研究員）
  • 山澤 一樹（施設外共同研究員）
  • 吉田 朋子（施設外共同研究員）

業績

2021

  1. 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):1067-75.
  2. 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(3):709-11.
  3. 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):1921-6.
  4. 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.
  5. Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. Endocr J. 2021;68(5):605-11.
  6. 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):1021-7.
  7. 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;2021.
  8. Masunaga Y, Kagami M, Kato F, Usui T, Yonemoto T, Mishima K, Fukami M, Aoto K, Saitsu H, Ogata T. Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia. Clin Epigenetics. 2021;13(1):73.
  9. 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.
  10. 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):1121-6.
  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. 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.
  13. 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):1181-4.
  14. Akiba K, Aso K, Hasegawa Y, Fukami M. Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency. J Pediatr Endocrinol Metab. 2021;34(9):1191-5.
  15. 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.
  16. Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, Namba N. The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms. Hum Genome Var. 2021;8(1):27.
  17. Onuma S, Fukuoka T, Miyoshi Y, Fukui M, Satomura Y, Yasuda K, Kimura T, Tachibana M, Bessho K, Yamamoto T, Tanaka H, Katsumata N, Fukami M, Hasegawa T, Ozono K. Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood. Clin Pediatr Endocrinol. 2021;30(3):143-8.
  18. 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.
  19. 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.
  20. 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 children before adrenarche. Endocr Connect. 2021;10(10):1221-6.
  21. 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).
  22. Fukami M, Ogata T. Congenital disorders of estrogen biosynthesis and action. Best Pract Res Clin Endocrinol Metab. 2021:101580.
  23. 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):163-9.
  24. Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S . A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5. Clin Pediatr Endocrinol. 2021;30(4):179-85.
  25. 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):187-93.
  26. Miyado M, Fukami M, Ogata T. MAMLD1 and differences/disorders of sex development: An update. Sex Dev. 2021:1-12.
  27. 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.
  28. 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;100(46):e27888.
  29. 中尾佳奈子. 論文紹介（基礎）The structure of human thyroglobulinヒトサイログロブリンの立体構造解明 日本甲状腺学会雑誌 日本甲状腺学会2021;12(1):86
  30. 宮戸真美, 緒方勤, 深見真紀 . GNAS-Gsα機能亢進型バリアントに起因する新たな先天性腎疾患の発見 糖尿病・内分泌代謝科 2021;53(1):71-77.
  31. 中尾佳奈子, 長谷川行洋. 【日常診療で内分泌疾患を見逃さない!】代表的内分泌疾患【性腺疾患】Turner症候群, Klinefelter症候群−月経不順や小精巣を見逃さない! Medicina 2021;58(9):1450-1453.
  32. 中尾佳奈子, 鳴海覚志 . 【小児遺伝子疾患事典】免疫疾患 SAMD9(関連疾患:MIRAGE症候群) 小児科診療 2021;84(11):1683-1684.
  33. 深見真紀 . 【小児遺伝子疾患事典】骨系統疾患 SHOX(関連疾患:Turner症候群) 小児科診療 2021;84(11):1707-1709.
  34. 深見真紀. SHOX異常症 小児疾患診療のための病態生理2 第6版 小児内科 53巻増刊号 2021

2020

  1. 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.
  2. Saito-Abe M, Yamamoto-Hanada K, Nakayama SF, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y. Reference values for salivary cortisol in healthy young infants by liquid chromatography-tandem mass spectrometry. Pediatr Int. 2020;62(7):785-788.
  3. 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.
  4. 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.
  5. Hattori A, Fukami M. Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline. Cytogenet Genome Res. 2020;160(4):167-176.
  6. 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.
  7. 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;0:1-6.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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;191(5):835-843.
  13. Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T. Human spermatogenesis tolerates massive size reduction of the pseudoautosomal region. Genome Biol Evol. 2020;12(11):1961-1964.
  14. 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.
  15. Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited. The Journal of clinical endocrinology and metabolism. 2020;105(11):dgaaa557.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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;66(2):205-214.
  22. 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;9132372.
  23. 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.
  24. 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
  25. 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;87(11):1124-1125.
  26. 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
  27. 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;66:439-443
  28. 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.
  29. 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.
  30. 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.
  31. 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.
  32. 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.
  33. 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. The Journal of clinical endocrinology and metabolism. 2021;106(1):e265-e72.
  34. 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.
  35. 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; 36(3):546-552.
  36. 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):8731.
  37. Tanase-Nakao K, Olson TS, Narumi S. MIRAGE Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, 2020;1993-2021.
  38. Fuke T, Nakamura A, Inoue T, Kawashima S,Hara-Isono K</u >, 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; 106(3):802-813.
  39. 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.
  40. Kang W, Yamatoya K, Miyado K, Miyado M, Miyamoto Y. Neuronal expression of Ca(2+) oscillation initiator is linked to rapid neonatal growth in mice. MicroPubl Biol. 2020;10.17912.
  41. 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.
  42. 鳴海覚志.　医者は死して何を残す？　小児科診療　2020; 83(7): 941-946.
  43. 宮戸真美, 福井由宇子, 深見真紀.　性スペクトラム　月刊泌尿器　科学評論社　2020; 12(2): 184-190.

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.
  41. 井上毅信. シルバーラッセル症候群表現型における単一遺伝子変異の関与に関する研究. 成長科学協会研究年報. 2019(42):79-80.
  42. 宮戸真美, 深見真紀. いま知りたい!!♂と♀で割りきれない　ヒトの性の多様性と連続性　Y染色体喪失とヒトの性スペクトラム. 実験医学. 2019;37(9):1434-8
  43. 鏡雅代. 【指定難病ペディア2019】個別の指定難病　染色体・遺伝子関連　第14番染色体父親性ダイソミー症候群(鏡-緒方症候群)[指定難病200]. 日本医師会雑誌. 2019;148(特別1):S313-S4.
  44. 勝又規行. 【内分泌症候群(第3版)-その他の内分泌疾患を含めて-】性分化、発育　性腺分化の異常　Turner症候群. 日本臨床. 2019;別冊(内分泌症候群III):294-7.
  45. 勝又規行. 指定難病最前線(Volume80)　副腎皮質刺激ホルモン(ACTH)不応症. 新薬と臨牀. 2019;68(3):385-8.
  46. 勝又規行. 【内分泌症候群(第3版)-その他の内分泌疾患を含めて-】糖代謝　インスリン抵抗性・耐糖能異常を伴う遺伝性(先天性)症候群　Turner症候群. 日本臨床. 2019;別冊(内分泌症候群IV):145-8.
  47. 深見真紀. 【小児循環器領域の生涯包括遺伝医療】疾患各論　Turner症候群の遺伝学. 小児科診療. 2019;82(7):869-73.
  48. 深見真紀. 片親性ダイソミー. 遺伝子医学. 2019;9(4):136-41.
  49. 福岡智也, 三善陽子, 大沼真輔, 和田珠希, 里村宜紀, 安田紀恵, 山本恵子, 木村武司, 橘真紀子, 別所一彦, 山本威久, 勝又規行, 大薗恵一. 男性化徴候を契機に診断された非古典型21水酸化酵素欠損症の一例. 日本内分泌学会雑誌. 2019;95(Suppl.Update):128-30.

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.
  49. 深見真紀.　ヒト染色体バリエーションの新知見　Journal of Mammalian Ova Research 2018; [in press]
  50. 深見真紀.　女性化乳房　見て学ぶ小児内分泌疾患. vol.12　2018
  51. 深見真紀 , 緒方勤 .　目で見る染色体異常症の診断と生殖内分泌関連疾患－Y染色体異常症―　Hormone Frontier in Gynecology　2018
  52. 深見真紀.　17βヒドロキシステロイド・デヒドロゲナーゼ3型欠損症　日本臨牀別冊 内分泌症候群 (第3版) 日本臨牀社　2018
  53. 深見真紀.　性分化疾患 (婦人科・小児科) 今日の臨床サポート　エルゼピア・ジャパン2018
  54. 服部淳, 深見真紀.　性分化疾患 (性腺分化異常症) の診断と治療　最新女性医療　2018; 5(3): 125-130.
  55. 宮戸真美, 深見真紀 .　停留精巣の原因遺伝子と環境因子―ゲノム解析の現況と未来.臨床泌尿器科　医学書院　2018; 72(10): 836-839
  56. 勝又規行.　男性化副腎皮質腫瘍　日本臨牀別冊 内分泌症候群 (第３版)日本臨牀社　2018; 2: 191-193
  57. 勝又規行.　女性化副腎皮質腫瘍　日本臨牀別冊 内分泌症候群 (第３版)日本臨牀社　2018; 2: 194-196
  58. 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　2018

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.
  38. 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
  39. 深見真紀.　ヒトゲノム事典　26.1 性決定にかかわる遺伝子 ヒトゲノム事典編集委員会編, 一式出版発行　悠書館出版　2017

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