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The Role of NLRP7 and KHDC3L in Germline Imprinting and Embryonic Reprogramming

Description: PUBLIC HEALTH RELEVANCE: Mutations in two genes, NLRP7 and KHDC3L cause recurrent biparental hydatidiform molar pregnancies (BiHM), in which the placenta is very abnormal and the fetus does not develop. We propose to examine how loss of function of these genes causes these abnormal pregnancies through studies in embryonic stem cell culture models. We will search for the proteins with which KHDC3L and NLRP7 interact and study how they cooperate to regulate the expression of many other genes to help us understand fundamental principles of the genetic regulation of reproduction and the causes of BiHM and other similar diseases.
Funding type: research
Funder scheme: R01
Start date: 2015-03-01
End date: 2022-02-28
Investigator: IGNATIA B VAN DEN VEYVER
Institution: BAYLOR COLLEGE OF MEDICINE
Field: Medicine
Funded outputs count: 8
Funder award ID: R01HD079442
OpenAlex ID: G6182320931
2023 · Momal Sharif, Laura Detti, et al. · Journal of Clinical Investigation · 3
2017 · Hari Krishna Yalamanchili, Ying‐Wooi Wan, et al. · Current Protocols in Bioinformatics · 50
2016 · Surabi Veeraragavan, Ying-Wooi Wan, et al. · Human Molecular Genetics · 59
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