Molecular genetic analyses of the mechanism of pseudohypoparathyroidims type 1b

Research Project

Project/Area Number	16K21665
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Endocrinology Pediatrics
Research Institution	Hokkaido University (2017) National Center for Child Health and Development (2016)
Principal Investigator	Nakamura Akie 北海道大学, 大学病院, 助教 (90724708)
Project Period (FY)	2016-04-01 – 2018-03-31
Project Status	Completed (Fiscal Year 2017)
Budget Amount *help	¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000) Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000) Fiscal Year 2016: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords	インプリンティング疾患 / 偽性副甲状腺機能低下症 / 内分泌学 / インプリンティング異常症
Outline of Final Research Achievements	We clarify the molecular basis of PHP cases. Furthermore, we identified a family case of PHP1b with mild hypomethylation of GNAS A/B. We performed whole genome sequence analysis with next generation sequencer and found out

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(3 results)