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Department of Molecular Endocrinology

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

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

Target diseases

Single gene disorders

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

Epigenetic/imprinting disorders

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

Multifactorial disorders

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

Members

Leadership

Senior Researchers

  • Yuko Fukui
  • Keiko Matsubara
  • Mami Miyado

Researchers

  • Noriyuki Katsumata
  • Kazuhisa Akiba
  • Kanako Nakao
  • Hiromune Narusawa
  • Atsushi Hattori
  • Tomoko Yoshida
  • Yasuko Ogiwara
  • Satoshi Tamaoka
  • Kaori Hara
  • Ruogu Zhang
  • Erina Suzuki

Research Assistants

  • Aki Ueda
  • Ikuko Kageyama
  • Akiko Kaneko
  • Tamae Tanji
  • Saori Miyasako
  • Mayuko Akiyama
  • Satoko Chiba

Guest Laboratory Head

  • Tsutomu Ogata

Research Collaborators

  • Maki Igarashi
  • Takanobu Inoue
  • Kikumi Ushijima
  • Megumi Iwahashi-Odano
  • Sayaka Kawashima
  • Kazuki Saito
  • Hirohito Shima
  • Ryuichi Nakagawa
  • Moeko Nakashima
  • Akie Nakamura
  • Tomoko Fuke
  • Kazuki Yamazawa
  • Kei Yoshida

Bibliography

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.

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, 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.

2019

  1. Adachi M, Fukami M, Kagami M, Sho N, Yamazaki Y, Tanaka Y, Asakura Y, Hanakawa J, Muroya K. Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. J Pediatr Endocrinol Metab. 2019;32(2):191-6.
  2. Aiba T, Saito T, Hayashi A, Sato S, Yunokawa H, Fukami M, Hayashi Y, Mizuno K, Sato Y, Kojima Y, Ohsako S. Exploring disease-specific methylated CpGs in human male genital abnormalities by using methylated-site display-amplified fragment length polymorphism (MSD-AFLP). J Reprod Dev. 2019;65(6):491-7.
  3. Akiba K, Ushijima K, Fukami M, Hasegawa Y. A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes. Diabet Med. 2019.
  4. Csillag B, Ilencikova D, Meissl M, Webersinke G, Laccone F, Narumi S, Haas O, Duba HC. Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. Pediatr Blood Cancer. 2019;66(4):e27589.
  5. Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. Clin Dysmorphol. 2019;28(1):26-9.
  6. Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Hum Mol Genet. 2019;28(14):2319-29.
  7. Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells. BMC Med Genomics. 2019;12(1):77.
  8. Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N, Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima T. Association of four imprinting disorders and ART. Clin Epigenetics. 2019;11(1):21.
  9. Igarashi M, Nogawa S, Kawafune K, Hachiya T, Takahashi S, Jia H, Saito K, Kato H. Identification of the 12q24 locus associated with fish intake frequency by genome-wide meta-analysis in Japanese populations. Genes Nutr. 2019;14:21.
  10. Inoue T, Yagasaki H, Nishioka J, Nakamura A,Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019;56(6):413-8.
  11. Ishii T, Hori N, Amano N, Aya M, Shibata H, Katsumata N, Hasegawa T. Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. J Endocr Soc. 2019;3(7):1367-74.
  12. Iwahashi M, Narumi S. Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain. J Mol Endocrinol. 2019;62(3):129-35.
  13. Iwai M, Hamatani T, Nakamura A, Kawano N, Kanai S, Kang W, Yoshii N, Odawara Y, Yamada M, Miyamoto Y, Saito T, Saito H, Miyado M, Umezawa A, Miyado K, Tanaka M. Membrane protein CD9 is repositioned and released to enhance uterine function. Lab Invest. 2019;99(2):200-9.
  14. Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A,Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. Clin Epigenetics. 2019;11(1):42.
  15. Katoh-Fukui Y, Baba T, Sato T, Otake H, Nagakui-Noguchi Y, Shindo M, Suyama M, Ohkawa Y, Tsumura H, Morohashi KI, Fukami M. Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bones. Bone. 2019;120:219-31.
  16. Kimura T, Kagami M, Matsubara K, Yatsuga S, Mukasa R, Yatsuga C, Matsumoto T, Koga Y. Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. Clin Case Rep. 2019;7(1):15-8.
  17. Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M, Katoh-Fukui Y. Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men. Cytogenet Genome Res. 2019;159(2):66-73.
  18. Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M. Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. Clin Epigenetics. 2019;11(1):36.
  19. Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T. A case report and literature review of monoallelic mutation of GHR. J Pediatr Endocrinol Metab. 2019;32(4):415-9.
  20. Miyado M, Fukami M. Losing maleness: Somatic Y chromosome loss at every stage of a man's life. FASEB Bioadv. 2019;1(6):350-2.
  21. Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T. Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. J Am Soc Nephrol. 2019;30(5):877-89.
  22. Miyado M, Kang W, Kawano N, Miyado K. Microexosomes versus exosomes: Shared components but distinct structures. Regen Ther. 2019;11:31-3.
  23. Natori T, Narumi S, Suzuki T, Sato M, Tsuda K, Kamada A, Yoshida M, Oi K, Suzuki Y, Terayama Y. An Anatomical Variation in the Cervical Carotid Artery of a Young Stroke Patient. Intern Med. 2019;58(1):123-6.
  24. Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations. Cytogenet Genome Res. 2019;158(2):56-62.
  25. Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Am J Med Genet A. 2019;179(9):1778-82.
  26. Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H. Reply: Artificial cycle 'per se' or the specific protocol of endometrial preparation as responsible for obstetric complications of frozen cycle? Hum Reprod. 2019;34(12):2554-5.
  27. Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H. Endometrial preparation methods for frozen-thawed embryo transfer are associated with altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus. Hum Reprod. 2019;34(8):1567-75.
  28. Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I. A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. Sex Dev. 2019;13(2):60-6.
  29. Sasaki K, Shiba K, Nakamura A, Kawano N, Satouh Y, Yamaguchi H, Morikawa M, Shibata D, Yanase R, Jokura K, Nomura M, Miyado M, Takada S, Ueno H, Nonaka S, Baba T, Ikawa M, Kikkawa M, Miyado K, Inaba K. Calaxin is required for cilia-driven determination of vertebrate laterality. Commun Biol. 2019;2:226.
  30. Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. J Clin Endocrinol Metab. 2019;104(12):6229-37.
  31. Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M. (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Hum Genome Var. 2019;6:7.
  32. Tanase-Nakao K, Mizuno K, Hayashi Y, Kojima Y, Hara M, Matsumoto K, Matsubara Y, Igarashi M, Miyado M, Fukami M. Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity. Endocr J. 2019;66(4):387-93.
  33. Uehara E, Hattori A, Shima H, Ishiguro A, Abe Y, Ogata T, Ogawa E, Fukami M. Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. Cytogenet Genome Res. 2019;158(3):115-20.
  34. Umino S, Kitamura M, Katoh-Fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y. A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. Mol Genet Genomic Med. 2019;7(6):e730.
  35. Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M, Kawamura T. KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatr Diabetes. 2019;20(6):712-9.
  36. Ushijima K, Okuno M, Ayabe T, Kikuchi N, Kawamura T, Urakami T, Yokota I, Amemiya S, Uchiyama T, Kikuchi T, Ogata T, Sugihara S, Fukami M. Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabet Med. 2019.
  37. Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). Eur J Hum Genet. 2019;27(12):1845-57.
  38. Yoshida T, Miyado M, Mikami M, Suzuki E,Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M, Fukami M. Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool. Hum Reprod. 2019;34(9):1762-9.
  39. Yoshii K, Matsumoto H, Hirasawa K, Sakauchi M, Hara H, Ito S, Osawa M, Fukami M, Horikawa R, Nagata S. Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. Respir Investig. 2019;57(4):395-8.
  40. Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, Shima H, Narumi S, Hasegawa Y. MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. Clin Pediatr Endocrinol. 2019;28(4):147-53.

2018

  1. Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. Eur J Endocrinol. 2018;178(2):137-44.
  2. Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Mise N, Kayama F, Saito H, Ohya Y. Regional differences in infant 25-Hydroxyvitamin D: Pilot study of the Japan Environment and Children's Study. Pediatr Int. 2018;60(1):30-4.
  3. Fukami M. Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. EBioMedicine. 2018;37:29-30.
  4. Fukami M, Kurahashi H. Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events. Methods Mol Biol. 2018;1769:21-33.
  5. Fukami M, Suzuki E, Igarashi M, Miyado M, Ogata T. Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders. Clin Endocrinol (Oxf). 2018;88(3):351-9.
  6. Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. Clin Case Rep. 2018;6(1):91-5.
  7. Hernandez Mora JR, Tayama C, Sanchez-Delgado M, Monteagudo-Sanchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simon C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K. Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. Epigenomics. 2018;10(7):941-54.
  8. Higuchi S, Takagi M, Takeda R, Yoshihashi H, Narumi S, Hasegawa T. An association with hypopituitarism and 9q subtelomere deletion syndrome. Clin Case Rep. 2018;6(12):2371-5.
  9. Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J. Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report. Diabetes Ther. 2018;9(1):421-6.
  10. Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Sci Rep. 2018;8(1):8279.
  11. Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M. GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. Asian J Androl. 2018;20(6):629-31.
  12. Iwai M, Harada Y, Miyabayashi R, Kang W, Nakamura A, Kawano N, Miyamoto Y, Yamada M, Hamatani T, Miyado M, Yoshida K, Saito H, Tanaka M, Umezawa A, Miyado K. Chemotactic behavior of egg mitochondria in response to sperm fusion in mice. Heliyon. 2018;4(11):e00944.
  13. Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A. 2018;176(2):415-20.
  14. Kang W, Ishida E, Yamatoya K, Nakamura A, Miyado M, Miyamoto Y, Iwai M, Tatsumi K, Saito T, Saito K, Kawano N, Hamatani T, Umezawa A, Miyado K, Saito H. Autophagy-disrupted LC3 abundance leads to death of supporting cells of human oocytes. Biochem Biophys Rep. 2018;15:107-14.
  15. Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A,Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M. An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. Hum Genome Var. 2018;5:18006.
  16. Katsumata N. Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurement. Pediatr Endocrinol Rev. 2018;16(Suppl 1):28-32.
  17. Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. J Clin Endocrinol Metab. 2018;103(6):2083-8.
  18. Matsubara K, Kagami M, Fukami M. Uniparental disomy as a cause of pediatric endocrine disorders. Clin Pediatr Endocrinol. 2018;27(3):113-21.
  19. Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M. Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias. Cytogenet Genome Res. 2018;154(3):122-5.
  20. Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. Eur J Hum Genet. 2018;26(8):1113-20.
  21. Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood. 2018;132(21):2309-13.
  22. Naiki Y, Fukami M. Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". J Clin Endocrinol Metab. 2018.
  23. Nakamura A, Kawano N, Motomura K, Kuroda A, Sekiguchi K, Miyado M, Kang W, Miyamoto Y, Hanai M, Iwai M, Yamada M, Hamatani T, Saito T, Saito H, Tanaka M, Umezawa A, Miyado K. Degradation of phosphate polymer polyP enhances lactic fermentation in mice. Genes Cells. 2018;23(10):904-14.
  24. Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K,Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018;55(8):567-70.
  25. Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M. STX2 is a causative gene for nonobstructive azoospermia. Hum Mutat. 2018;39(6):830-3.
  26. Narumi S. Rare monogenic causes of primary adrenal insufficiency. Curr Opin Endocrinol Diabetes Obes. 2018;25(3):172-7.
  27. Narumi S, Hasegawa T. [Association between SAMD9/SAMD9L and hematological malignancies]. Rinsho Ketsueki. 2018;59(11):2475-80.
  28. Narumi S, Matsubara K, Ishii T, Hasegawa T. Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature. Clin Pediatr Endocrinol. 2018;27(4):235-8.
  29. Ogata H, Ihara H, Gito M, Sayama M, Murakami N, Ayabe T, Oto Y, Nagai T, Shimoda K. Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. Res Dev Disabil. 2018;73:126-34.
  30. Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K, Kojima Y. Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter. Arch Environ Contam Toxicol. 2018;74(2):240-7.
  31. Saito K, Fukami M, Miyado M, Ono I, Sumori K. Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen-thawed embryo transfer. Reprod Med Biol. 2018;17(1):89-92.
  32. Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T. (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I. J Endocr Soc. 2018;2(1):9-23.
  33. Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson TS. Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv. 2018;2(2):120-5.
  34. Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS One. 2018;13(11):e0206184.
  35. Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Juhlen R, Schuelke M, Mohnike K, Huebner A, Narumi S. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018;55(2):81-5.
  36. Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T. GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. Clin Case Rep. 2018;6(11):2229-33.
  37. Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. Clin Pediatr Endocrinol. 2018;27(3):123-30.
  38. Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018;63(12):1277-81.
  39. Tanase-Nakao K, Miyata I, Terauchi A, Saito M, Wada S, Hasegawa T, Narumi S. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations. Horm Res Paediatr. 2018;90(2):132-7.
  40. Tomonaga K, Tahara K, Watanabe T, Ohno M, Ogawa K, Kutsukake M, Fujino A, Hishiki T, Kinjyo K, Horikawa R, Katsumata N, Kanamori Y. A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor. J Pediatr Surg Case Rep. 2018;38:50-2.
  41. Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S, Japanese Study Group of Insulin Therapy for C, Adolescent D. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018;19(2):243-50.
  42. Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M. A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. J Hum Genet. 2018;63(3):377-81.
  43. Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2018;65(1).
  44. Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H. Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. J Pediatr Hematol Oncol. 2018;40(3):e195-e7.
  45. Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. Am J Med Genet A. 2018;176(1):139-43.
  46. Yoshida K, Kang W, Nakamura A, Kawano N, Hanai M, Miyado M, Miyamoto Y, Iwai M, Hamatani T, Saito H, Miyado K, Umezawa A. Ubiquitin-activating enzyme E1 inhibitor PYR-41 retards sperm enlargement after fusion to the egg. Reprod Toxicol. 2018;76:71-7.
  47. Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M. 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome. Endocr J. 2018;65(10):979-90.
  48. Yoshii K, Naiki Y, Terada Y, Fukami M, Horikawa R. Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome. Endocr J. 2018;65(2):221-5.

2017

  1. Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol. 2017;177(2):187-94.
  2. Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H. Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. J Hum Genet. 2017;62(10):919-22.
  3. Fukami M, Miyado M. Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Ann Pediatr Endocrinol Metab. 2017;22(2):90-4.
  4. Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T. Catastrophic cellular events leading to complex chromosomal rearrangements in the germline. Clin Genet. 2017;91(5):653-60.
  5. Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T. Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty. J Cell Mol Med. 2017;21(10):2623-6.
  6. Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature. Endocr J. 2017;64(10):947-54.
  7. Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M. A novel C-terminal truncating NR5A1 mutation in dizygotic twins. Hum Genome Var. 2017;4:17008.
  8. Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat. 2017;38(1):39-42.
  9. Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S, Japanese Study Group of Insulin Therapy for C, Adolescent D. FUT2 non-secretor status is associated with Type 1 diabetes susceptibility in Japanese children. Diabet Med. 2017;34(4):586-9.
  10. Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics. 2017;9:52.
  11. Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M. Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome. Am J Med Genet A. 2017;173(10):2847-50.
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