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、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

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

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

  • 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)
  • 五十嵐 麻希(研究員)
  • 秋葉 和壽(研究員)
  • 中村 明枝(研究員)
  • 齊藤 和毅(研究員)
  • 金城 健一(研究員)
  • 服部 淳(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)
  • 宮迫 さおり(研究補助者)
  • 植田 亜希(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

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. 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.
  9. 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.
  10. 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.
  11. Inoue T, Yagasaki H, Nishioka J, Nakamura AMatsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2018.
  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. Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. DNA methylation status of SHOX-flanking CpG islands in healthy individuals and short stature patients with pseudoautosomal copy-number variations. Cytogenet Genome Res. 2018; [Epub ahead of print]
  31. 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.
  32. 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.
  33. 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.
  34. 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.
  35. 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.
  36. 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.
  37. 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.
  38. 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.
  39. Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018;63(12):1277-81.
  40. 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.
  41. 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.
  42. 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.
  43. 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.
  44. 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).
  45. 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.
  46. 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.
  47. 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.
  48. 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.
  49. 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.
  50. 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.
  51. 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.
  52. 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.
  53. 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.
  54. 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.
  55. Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M. (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Human Genome Variation. 2019;6(1):7.
  56. 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]
  57. 深見真紀. 女性化乳房 見て学ぶ小児内分泌疾患. vol.12 2018
  58. 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
  59. 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
  60. 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
  61. 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; [in press]
  62. 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
  63. 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
  64. 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
  65. 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

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.
  31. 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
  32. 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 2016; 21巻
  33. 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
  34. 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
  35. 鏡雅代. Kagami-Ogata症候群 小児科診療 診断と治療社 2016; 79: 1771-1776