2017 Fiscal Year Final Research Report
Molecular evolutionary genetics analysis and elucidation of pathogenic mechanism of GNAS related imprinting disease
Project/Area Number |
26461537
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Hamamatsu University School of Medicine (2016-2017) National Center for Child Health and Development (2014-2015) |
Principal Investigator |
Sano Shinichiro 浜松医科大学, 医学部, 協定訪問共同研究員 (60535574)
|
Co-Investigator(Kenkyū-buntansha) |
鏡 雅代 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (70399484)
|
Project Period (FY) |
2014-04-01 – 2018-03-31
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Keywords | 偽性副甲状腺機能低下症 / GNAS / インプリンティング |
Outline of Final Research Achievements |
We accumulated more than 80 clinical history of PHP patients and performed molecular analysis in 70 cases of them. During the research period, we published some papers as follows: Sano S, et al., Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocr J 62(6), 523-529(2015); Nakamura A, Sano S, se al., Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. J Clin Endcocrinol Metab 101(7), 2623-2627, (2016); Sano S, et al., Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?. J Hum Genet 61(8), 765-769, (2016); Sano S., et al., (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I J Endocr Soc, 2(1),9-23, (2018)
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Free Research Field |
小児内分泌
|