Molecular genetic analyses of the mechanism of pseudohypoparathyroidims type 1b

2017 Fiscal Year Final Research Report

• 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
• Keywords: インプリンティング疾患 / 偽性副甲状腺機能低下症

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

Free Research Field

小児内分泌