Homozygous Inactivating Mutation inNANOS3in Two Sisters with Primary Ovarian Insufficiency
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چکیده
منابع مشابه
Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insufficiency (POI) is seldom obtained. The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. We performed mutational analysis ...
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Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response gene whose heterozygous mutations predispose to breast cancer. Compared to the mother's cells, the patients' lymphocytes displayed higher levels of...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2014
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2014/787465