Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring
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چکیده
منابع مشابه
A Novel Mutation in NLRP7 Related to Recurrent Hyda-tidiform Mole and Reproductive Failure
Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...
متن کاملA recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.
A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. Some women with recurrent BiHM have mutations in the NLRP7 gene on chromosome 1...
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15 صفحه اولAbsence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are assoc...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2017
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2017.94