研究業績

トピックス

2022年

子宮内低栄養におかれた雄マウスが、出生前に男性ホルモン分泌不全を、そして出生後に精子数減少を示すことを見出しました。
Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M, Ogata T. Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse.Journal of the Endocrine Society in press

2021年

  • 初診時に頭部MRIでは腫瘍が同定されず思春期早発症のみであった松果体胚細胞腫瘍を報告しました
    (山本ら、思春期早発症が先行した松果体胚細胞腫瘍. 日本小児科学会雑誌 2021)
  • 全染色体母性ダイソミーであるparthenogenesisの発症機序が複数存在することを明らかにしました
    (Masunaga et al., Parthenogenetic mosaicism:generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia. Clin Epigenetics, 2021)

2020年

  • 成長障害の症例の解析からIGF2変異症例を新たに5例集積し、その臨床的特徴を明らかにしました
    (Masunaga et al., IGF2 mutations: report of five cases, review of the literature, and comparison with H19/IGF2:IG-DMR epimutations. J Clin Endocrinol Metab, 2020)
  • 重篤な症状を欠く低フォスファターゼ症の乳児に対して低容量の酵素補充療法が有効であったことを報告しました
    (Fujisawa et al., Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms. Front Endocrinol, 2020)

2021年

  1. Binder G*, Nakamura A, Schweizer, Ogata T, Fukami M, Nagasaki K: Long-term effect of aromatase inhibition in aromatase excess syndrome. J Clin Endocrinol Metab. 2021;106(5):1491-1500. doi: 10.1210/clinem/dgab054. 
  2. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, 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. 2021;106(3):802–813. doi: 10.1210/clinem/dgaa856.
  3. Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, 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 May 24. doi: 10.1038/s10038-021-00937-7. 
  4. Hiraide T, Masunaga Y, Honda A, Kato F, Fukuda T, Fukami M, Nakashima M, Saitsu H, Ogata T*: Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. J Hum Genet (accepted).
  5. Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Kosho T, Ogata T, Saitsu H*: Whole genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. J Hum Genet (submitted).
  6. Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H*. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. J Hum Genet. 2021 Jun 11. doi: 10.1038/s10038-021-00948-4. 
  7. Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H*: Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Brain Dev. 2021 Jun 3:S0387-7604(21)00102-9. doi: 10.1016/j.braindev.2021.05.013. 
  8. Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saistu T*: Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. Clin Genet. 2021;100(1):40–50. doi: 10.1111/cge.13951. Epub 2021 Mar 8.
  9. Iwayama H*, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S: Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.Thyroid. 2021 Sep 31(9):1316-1321. doi: 10.1089/thy.2020.0696.
  10. Iwayama H*, Tanaka T, Aoyama K, Moroto M, Adachi S, Fujisawa Y, Matsuura H,Takano K, Mizuno H, Okumura A: Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan. Front Neurol. 2021 Jul 15. doi: 10.3389/fneur.2021.657820. eCollection.
  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 May 26;13(1):119. doi: 10.1186/s13148-021-01106-5.
  12. Mano H, Fujiwara S, Takamura K, Kitoh H, Takayama S, Ogata T, Haga N*: Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan. J Orthop Sci. 26: 650–654, 2021. 2020 Jun 26:S0949-2658(20)30147-0. doi: 10.1016/j.jos.2020.05.008.
  13. 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 Apr 7;13(1):73. doi: 10.1186/s13148-021-01062-0.
  14. 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 PMM2 mutations for congenital disorder of glycosylation. Endocr J 2021;68(5):605–611. doi: 10.1507/endocrj.EJ20-0706. 
  15. Nishina S*, Hosono K, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata 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):1021–1027. doi: 10.1038/s10038-021-00909-x
  16. 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 2021;66(4):439–443. doi: 10.1038/s10038-020-00858-x. Epub 2020 Oct 16.
  17. Saida K, Fukuda T, Sengoku T, Ogata K, Takeshi Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N*: OTUD5 variants associated with X-linked intellectual disability and congenital malformation. Front Cell Dev Biol 2021 Mar 3;9:631428. doi: 10.3389/fcell.2021.631428.
  18. Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T*: The first adult case of cytochrome P450 oxidoreductase deficiency with preserved spermatogenesis. Congenit Anom (accepted).
  19. 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 Mar 30;5(7):bvab056. doi: 10.1210/jendso/bvab056. eCollection 2021 Jul 1.
  20. 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 Feb 2;8(1):5. doi: 10.1038/s41439-021-00137-x
  21. Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H, Ogata T*: A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. Am J Med Genet A (revised version submitted)
  22. 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. 2021;58(6):427–432. doi: 10.1136/jmedgenet-2020-107019.

2020年

  1. Fujusawa Y*, Kitaoka T, Ono H, Nakashima S, Ozono K, Ogata T: Efficacy of reduced doses of asfotase alfa replacement therapy in an infant with hypophosphatasia who lacked severe clinical symptoms. Front Endocrinol. 2020 Dec 18;11:590455. doi: 10.3389/fendo.2020.590455. eCollection 2020.
  2. Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T*,: Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region. Genome Biol Evol. 2020 Nov 3;12(11):1961-1964. doi: 10.1093/gbe/evaa168.
  3. Fukuda T*, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H: Exome reports: A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet 2019 Nov 4:103804. doi: 10.1016/j.ejmg.2019.103804.
  4. 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 Oct 22;12(1):159. doi: 10.1186/s13148-020-00949-8.
  5. 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 Epigenetics. 2020 Jul 22;12(1):111. doi: 10.1186/s13148-020-00900-x.
  6. Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M, Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y*: Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. Am J Med Genet A 2020;182(6):1500–1505. doi: 10.1002/ajmg.a.61575.
  7. Hiraide T, Kobota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H*: POLR3A variants in striatal involvement without diffuse hypomyelination. Brain Dev 2020 Apr;42(4):363–368. doi: 10.1016/j.braindev.2019.12.012.
  8. Hiraide T, Watanabe S, Matsybayashi T, Yanagi K, Nakashima M, Ogata T, Saitsu H*: A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Mol Genet Genomic Med 2020 Mar;8(3):e1145. doi: 10.1002/mgg3.1145.
  9. Horikawa R*, Ogata T, Matsubara Y, Yokoya S, Ogawa Y, Nishijima K, Endo T, Ozono K: Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients. Endocr J 2020;67(8):803–818. doi: 10.1507/endocrj.EJ19-0371.
  10. Igarashi M. Masunaga Y, Hasegawa Y, Kinjo L, 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 Oct 15;10(1):17375. doi: 10.1038/s41598-020-74405-1.
  11. Igarashi M. Masunaga Y, Hasegawa Y, Kinjo L, 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 Oct 15;10(1):17375. doi: 10.1038/s41598-020-74405-1.
  12. Imura K, Ikeya S, Ogata T, Tokura Y*: Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation. J Dermatol  2020;47(4): e111–e113. doi: 10.1111/1346-8138.15206.
  13. 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 Epigenetics. 2020 Jun 16;12(1):86. doi: 10.1186/s13148-020-00865-x
  14. 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. doi: 10.1297/cpe.29.173.
  15. Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa RS, 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 Jul 3;10(1):10985. doi: 10.1038/s41598-020-67715-x.
  16. 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 Jan 24;7(1):1. doi: 10.1186/s40348-020-0093-x.
  17. 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. doi: 10.1507/endocrj.EJ20-0291. Epub 2020 Sep 3.
  18. 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 Jan 1;105(1). pii: dgz034. doi: 10.1210/clinem/dgz034.
  19. Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T*: De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. J Hum Genet 65 (2): 181–186, 2020. doi: 10.1038/s10038-019-0690-5.
  20. 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 2021;66(4):439–443. doi: 10.1038/s10038-020-00858-x. Epub 2020 Oct 16.
  21. Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T*: De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation. J Hum Genet 64 (10):1041–1044, 2019. doi: 10.1038/s10038-019-0650-0.
  22. 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 Nov;63(11):104060. doi: 10.1016/j.ejmg.2020.104060.
  23. 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*; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes: Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabet Med 2020;37(12):2131–2135. doi: 10.1111/dme.14221.
  24. 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. doi: 10.1002/ccr3.2826.

2019年

  1. 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 Jan 21;6:7. doi: 10.1038/s41439-019-0039-9.
  2. Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N*: Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. J Hum Genet 64 (4): 313–322, 2019. doi: 10.1038/s10038-018-0559-z.
  3. Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H*: Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. Brain Dev 41 (5): 474–479, 2019. pii: S0387-7604(18)30594-1. doi: 10.1016/j.braindev.2019.01.005.
  4. 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 11 (1): 21, 2019. doi: 10.1186/s13148-019-0623-3.
  5. 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 Gs-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis. J Am Soc Nephrol 30 (5): 877–889, 2019. pii: ASN.2018121268. doi: 10.1681/ASN.2018121268.
  6. 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. 11 (1): 36, 2019. doi: 10.1186/s13148-019-0633-1.
  7. 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 11 (1): 42, 2019. doi: 10.1186/s13148-019-0640-2.
  8. Matsushita R*, Nagasaki K, Ayabe T, Kinjo S, Haruna H, Ihara K, Hasegawa T, Ogata T, Ozono K, Minamitani K, Thyroid Committee of the Japanese Society for Pediatric Endocrinology: Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017. J Pediatr Endocrinol Metab. 2019;32(6):585–595. doi: 10.1515/jpem-2018-0444.
  9. 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, Yuka Wada, 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. Hum Mol Genet. 28 (14): 2319–2329, 2019 doi: 10.1093/hmg/ddz066.
  10. Hosokawa Y, Higuchi S, Kawakita R, Hata I, Urakami T, Isojima T, Takasawa K, Matsubara Y, Mizuno H, Maruo Y, Matsui K, Aizu K, Jinno K, Araki S, Fujisawa Y, Osugi K, Tono C, Takeshima Y, Yorifuji T*：Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young. J Diabetes Investig. 2019 Nov;10(6):1586-1589. doi: 10.1111/jdi.13046. Epub 2019 Apr 23.
  11. 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 158 (3): 115–120, 2019. doi: 10.1159/000501378. Epub 2019 Jul 5.
  12. Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M*, Kawamura T; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes: KLF11 (MODY7) variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatr Diabetes. 20 (6): 712–719, 2019. doi: 10.1111/pedi.12868. [Epub ahead of print]
  13. 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. 34 (9): 1762–1769. doi: 10.1093/humrep/dez117 [Epub ahead of print] 2019 Sep 29
  14. 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. 27 (12): 1845–1857, 2019. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22.
  15. Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T*: De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. J Hum Genet 65 (2): 181–186, 2020. doi: 10.1038/s10038-019-0690-5.
  16. Fukuda T*, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H: Exome reports: A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet 2019 Nov 4:103804. doi: 10.1016/j.ejmg.2019.103804.
  17. Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T*: De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation. J Hum Genet 64 (10):1041–1044, 2019. doi: 10.1038/s10038-019-0650-0.

2018年

  1. Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M*: De Novo 50-bp GNAS (Gs-alpha) Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. Cytogenet Genome Res 153 (3): 125–130, 2017. doi: 10.1159/000485644. Epub 2018 Jan 11
  2. 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. 2017 Nov 21;2(1):9-23. doi: 10.1210/js.2017-00293.
  3. Sakata S, Okada S*, Aoyama K, Hara K, Tani C, Kagawa R, Utsunomiya-Nakamura A, Miyagawa S, Ogata T, Mizuno H, Kobayashi M: Individual Clinically Diagnosed with CHARGE syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki syndrome: A Case Report. Front Genet (Genetic Disorders Section) 11; 8: 210, 2017. doi: 10.3389/fgene.2017.00210.
  4. Takasawa K, Gau M, Sutani A, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K*: Phenotypic variation in 46,XX disorders of sex development due to the NR5A1 p.R92W variant: a sibling case report and literature review. Sex Dev 11 (5–6): 284–288, 2017. doi: 10.1159/000485868.
  5. Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T*: Mosaic UPD(14)pat in a Patient with Mild Features of Kagami-Ogata Syndrome. Clin Case Rep 6 (1): 91–95, 2017. doi: 10.1002/ccr3.1300. eCollection 2018 Jan.
  6. 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, Kikuch T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes 19 (2): 243–250, 2018. doi: 10.1111/pedi.12544. [Epub ahead of print]
  7. 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 74 (2): 240–247, 2018. doi: 10.1007/s00244-017-0466-x. Epub 2017 Oct 27.
  8. Ozono K, Ogata T, Horikawa R, Matsubara Y, Ogata Y, Nishijima K, Yokoya S: Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients. Endocr J (accepted) 65 (2): 159–174, 2018. doi: 10.1507/endocrj.EJ17-0313. Epub 2017 Nov 7.
  9. 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 176 (1): 139–143, 2018. doi: 10.1002/ajmg.a.38535.
  10. Shima H, MD*, Koehler K*, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Schuelke M, Huebner A, Narum S: Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet 55 (2): 81–85, 2018. doi: 10.1136/jmedgenet-2017-105020.
  11. Okuno M, Ayabe T, Yokota I, Musya I, Shiga K, Kikuchi T, Kikuchi N, Ohtake A, Nakamura A, Nakabayashi K, Okamura K, Momozawa Y, Suzuki J, Urakami T, Kawamura T, Amemiya S, Ogata T, Sugihara S, Fukami M*, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Protein-Altering Variants of PTPN2 in Childhood-onset Type 1A Diabetes. Diabet Med 35 (3): 376–380, 2018. doi: 10.1111/dme.13566.
  12. Ono H, Numakura C, Homma K, Hasegwa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T*: Longitudinal Serum and Urine Steroid Metabolite Profiling in a 46,XY Infant with Prenatally Identified POR Deficiency. J Steroid Biochem Mol Biol 178: 177–184, 2018. doi: 10.1016/j.jsbmb.2017.12.008. Epub 2017 Dec 28.
  13. Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H*: De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet 137 (1): 95–104, 2018. doi: 10.1007/s00439-017-1863-y.
  14. 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 26 (8): 1113–1120, 2018. doi: 10.1038/s41431-018-0148-9.
  15. 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 55 (8): 567–570, 2018. doi: 10.1136/jmedgenet-2017-104986.
  16. 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 39 (6): 830–833, 2018. doi: 10.1002/humu.23423.
  17. Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T*: Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. Sci Rep 8 (1): 2287, 2018. doi: 10.1038/s41598-018-20691-9.
  18. Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Tkano 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 103 (6): 2083–2088, 2018. doi: 10.1210/jc.2017-02780.
  19. Hernandez Mora JR, Tayama C, Sánchez-Delgado M, Monteagudo-Sánchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simón C, Moran S, Esteller M, Tenorio J, Pablo Lapunzina P, Kagami M, Monk D, Nakabayashi K*: Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. Epigenomics 10 (7): 941–954, 2018. doi: 10.2217/epi-2017-0172.
  20. Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y*: Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. Jpn J Ophthalmol A 62 (4): 458–466, 2018. doi: 10.1007/s10384-018-0591-8.
  21. Mano H, Fujiwara S, Takamura K, Kitoh H, Takayama S, Ogata T, Hashimoto S, Haga N*: Congenital limb deficiency in Japan: A cross-sectional nationwide survey on its epidemiology. BMC Musculoskelet Disord 2018 Jul 27;19(1):262. doi: 10.1186/s12891-018-2195-3.
  22. 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 65 (10): 979–990, 2018. doi: 10.1507/endocrj.EJ18-0212.
  23. 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 etiology. J Med Genet 56 (6); 413–418, 2019. 2018 Sep 21. pii: jmedgenet-2018-105463. doi: 10.1136/jmedgenet-2018-105463.
  24. 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 6 (11): 2229–2233, 2018. doi: 10.1002/ccr3.1851.
  25. 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 20 (6): 629–631, 2018. doi: 10.4103/aja.aja_20_18.
  26. Nakagawa Y, Nakanishi T, Satake E, Matsushita R, Saegusa H, Kubota A, Natsume H, Shibata Y, Fujisawa Y*Postnatal BMI changes in children with different birthweights: A trial study for detecting early predictive factors for pediatric obesity. Clin Pediatr Endocrinol. 2018;27(1):19-29. doi: 10.1297/cpe.27.19.

2017年

  1. Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M*: Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues. Hum Mutat 38 (1): 39–42, 2017. doi: 10.1002/humu.23116. Epub 2016 Sep 21.
  2. Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T*: Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. Am J Med Genet A 173 (1): 157–162, 2017. doi: 10.1002/ajmg.a.37992.
  3. Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT): FUT2 nonsecretor status links type 1 diabetes susceptibility in Japanese children. Diabet Med 34 (4): 586–589, 2017. doi: 10.1111/dme.13288. 
  4. Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T*: Genomewide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genet Med 19(4):476–482, 2017. doi: 10.1038/gim.2016.123. Epub 2016 Sep 15.
  5. 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 KK,  Hata KK, Matsubara Y, Ogata T, Fukami M*, Sugihara S: Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig 8 (3): 286–294, 2017. doi: 10.1111/jdi.12586. Epub 2016 Nov 25.
  6. Onda Y*, Sugihara S, Ogata T, Yokoya S, Yokoyama T, Tajima N; Type 1 Diabetes (T1D) Study Group: Incidence and prevalence of childhood-onset type 1 diabetes in Japan: The T1D Study. Diabet Med 34 (7): 909–915, 2017. doi: 10.1111/dme.13295. Epub 2017 Feb 2
  7. 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 38 (5): 503–506, 2017. doi: 10.1002/humu.23178. Epub 2017 Feb 3.
  8. Fukami M*, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T: Paradoxical gain-of-function mutant of the G-protein coupled receptor PROKR2 promotes early puberty. J Cell Mol Med 21 (10): 2623–2626, 2017. doi: 10.1111/jcmm.13146. Epub 2017 Mar 24.
  9. Kagami M*, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saito S, Tajima T, Yorifuji T Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M,  Ogata T*: Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med 19 (12): 1356–1366, 2017. doi: 10.1038/gim.2017.53. 
  10. Kitaoka T, Tajima T, Nagasaki K, Kikuchi T, Yamamoto K, Michigami T, Okada S, Fujiwara I, Kokaji  M, Mochizuk Hi, Ogata T, Tatebayashi K, Watanabe A, Yatsuga S, Kubota T, Ozono K*: Safety and Efficacy of Treatment with Asfotase Alfa in Patients with Hypophosphatasia: Results from a Japanese Clinical Trial. Clin Endocrinol 87 (1): 10–19, 2017. doi: 10.1111/cen.13343. 
  11. 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. Andorology 5 (4) :824–831, 2017.
  12. Isojima T, Sakazume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S: Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth of Turner syndrome. Clin Pediatr Endocrinol 26 (3): 153–164, 2017. doi: 10.1297/cpe.26.153. 
  13. 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. doi: 10.1186/s13148-017-0350-6. eCollection 2017.
  14. Miyoshi Y, Yorifuji T, Horikawa R, Takahashi I, Nagasaki K, Ishiguro H, Fujiwara I, Ito J, Oba M, Fujisaki H, Kato M, Shimizu C, Kato T, Matsumoto K, Sago H, Takimoto T, Okada H, Suzuki N, Yokoya S, Ogata T, Ozono K: Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists. Clin Pediatr Endocrinol 26 (2): 81–88, 2017. doi: 10.1297/cpe.26.81. Epub 2017 Apr 22.
  15. Shozu M*, Ishikawa H, Horikawa R, Sakakibara H, Izumi SI, Ohba T, Hirota Y, Ogata T, Osuga Y, Kugu K: Nomenclature of primary amenorrhea: a proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea. J Obstet Gynaecol Res 43 (11): 1738–1742, 2017. doi: 10.1111/jog.13442.
  16. Hosokawa Y, Kawakita R, Yokoya S, Ogata T, OzonoK, Arisaka O, Hasegawa Y, Kusuda S, Masue M, Nishibori H, Sairenchi T, Inoue E, Yorifuji T*: Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. Endocr J 64 (9): 867–880, 2017. doi: 10.1507/endocrj.EJ17-0024.
  17. Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T*: De Novo IGF2 Mutation on the Paternal Allele in a Patient with Silver-Russell Syndrome and Ectrodactyly. Hum Mutat 38 (8): 953–958, 2017 May 10. doi: 10.1002/humu.23253.
  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 18 (6) pii: E1300, 2017. doi: 10.3390/ijms18061300.
  19. Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A: X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics 18 (4): 185–194, 2017. doi: 10.1007/s10048-017-0520-x. 
  20. Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M*: De Novo 50-bp GNAS (Gs-alpha) Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. Cytogenet Genome Res 153 (3): 125–130, 2017. doi: 10.1159/000485644. Epub 2018 Jan 11
  21. 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. 2017 Nov 21;2(1):9-23. doi: 10.1210/js.2017-00293.
  22. Sakata S, Okada S*, Aoyama K, Hara K, Tani C, Kagawa R, Utsunomiya-Nakamura A, Miyagawa S, Ogata T, Mizuno H, Kobayashi M: Individual Clinically Diagnosed with CHARGE syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki syndrome: A Case Report. Front Genet (Genetic Disorders Section) 11; 8: 210, 2017. doi: 10.3389/fgene.2017.00210.
  23. Takasawa K, Gau M, Sutani A, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K*: Phenotypic variation in 46,XX disorders of sex development due to the NR5A1 p.R92W variant: a sibling case report and literature review. Sex Dev 11 (5–6): 284–288, 2017. doi: 10.1159/000485868.

競合的研究費

浜松医科大学所属 公的研究費

（1）文部科学省・日本学術振興会

増永陽平
2021年度－2022年度
日本学術振興会　科学研究費補助金 研究活動スタート支援（日本学術振興会）
NANS変異患者の臨床的特徴および骨異形成性低身長発症機序の解明（研究代表）
矢本香織
2021年度－2022年度
日本学術振興会　科学研究費補助金 研究活動スタート支援（日本学術振興会）
先天性四肢形成不全症を招く新規疾患成立機序の解明
小野裕之
2021年度－2023年度
日本学術振興会　科学研究費補助金 若手研究
性分化疾患・生殖機能障害における葉酸とメチル化変動の関係（研究代表）
藤澤泰子
2020年度－2022年度
日本学術振興会　科学研究費補助金 基盤C
代謝に制御されるエピゲノム に着目した精巣形成不全症発症の分子基盤の解明（研究代表）
2017年度－2020年度
日本学術振興会　科学研究費補助金 基盤C
胎生期の低栄養環境による精巣機能障害の発症機序の解明（研究代表）
2014年度－2017 年度
日本学術振興会　科学研究費補助金 基盤C
母乳栄養による肥満発症抑制機序：脂肪細胞と腸管内分泌細胞への複合作用の解明（研究代表）
緒方勤
2017 年度－2019年度
日本学術振興会科学研究費補助金　基盤研究B
世界初の機能亢進型GNAS生殖細胞変異の同定と新規GNAS機能低下発症機序の解明（研究代表）
2020年度－2022年度
日本学術振興会　科学研究費補助金　基盤研究A
多因子疾患としての性分化疾患・生殖機能障害発症機序の解明（研究代表）
2017年度－2021年度
文部科学省　新学術領域研究（研究領域提案型）
ヒト性スペクトラムの分子基盤（研究分担）

（2）厚生労働省

緒方勤
2015年度－2017年度
厚生労働科学研究費補助金　難治性疾患克服研究事業
性分化・性成熟疾患群における診療ガイドラインの作成と普及（主任研究者）
2018年度－2019年度
厚生労働科学研究費補助金　難治性疾患克服研究事業
プラダー・ウィリ症候群における診療ガイドラインの作成（主任研究者）
2020年度－2022年度
厚生労働科学研究費補助金　難治性疾患克服研究事業
性分化・性成熟異常を伴う内分泌症候群（プラダーウイリ症候群・ヌーナン症候群を含む）の診療水準向上を目指す調査研究（主任研究者）

（3）AMED（日本医療研究開発機構）

緒方勤
2018年度－2020年度
日本医療研究開発機構研究費　難治性疾患等実用化研究事業　難治性疾患実用化研究事業　未診断疾患イニシアチブ（IRUD）：希少未診断疾患に対する診断プログラムの開発に関する研究 [IRUD拠点病院]（研究代表者）

その他の研究助成金

増永陽平
2021年度
日本小児内分泌学会未来開拓研究助成（ノボノルディスクファーマ株式会社　後援）
原発性アルドステロン症における新規原因遺伝子の探索
2020年度
成長科学協会研究助成金【自由課題研究】　
モザイク型parthenogenesis発症機序の解明
小野裕之
2020年度
成長科学協会研究助成金【自由課題研究】　
不完全型アンドロゲン受容体異常症家系において同定されたAR遺伝子深部イントロ ンバリアントの機能解析
矢本香織
2018年度
日本小児内分泌学会未来開拓研究助成（ノボノルディスクファーマ株式会社　後援）
IGF2遺伝子変異に起因するシルバーラッセル症候群における臨床的特徴の解明
藤澤泰子
2021年度
QUALITY IMPROVEMENT GRANT （Pfizer）
Educational program of endocrine late-effects in childhood cancer survivors for a wide range of health caregivers and survivors
2016年度
日本小児内分泌学会未来開拓研究助成（ノボノルディスクファーマ株式会社　後援）
「胎生期の低栄養環境による精巣機脳障害に関する研究」
公益財団法人 母子健康協会第29回小児医学研究助成
「胎生期の低栄養環境と成長後のオス生殖機能に関する研究

浜松医科大学関連施設所属 公的研究費

佐野伸一朗
2020年度－2023年度
日本学術振興会　科学研究費補助金 基盤C
先天性GNAS関連疾患の臨床像と疾患発生機序の解明