Association of BMP15 and GDF9 variants to premature ovarian insufficiency
نویسندگان
چکیده
منابع مشابه
BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure
BACKGROUND Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. Mutations in bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) have been shown to be associated with POF. METHODS Genomic DNA was isolated from 52 idiopathic premat...
متن کاملMutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
BACKGROUND AND OBJECTIVE Mutations in bone morphogenic protein 15 (BMP15) and growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF). SUBJECT AND METHODS We have directly sequenced both genes in a cohort of 203 POF patients presenting with primary or second...
متن کاملbmp15 and gdf9 gene mutations in premature ovarian failure
background: premature ovarian failure (pof) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. mutations in bone morphogenetic protein 15 (bmp15) and growth differentiation factor 9 (gdf9) have been shown to be associated with pof. methods: genomic dna was isolated from 52 idiopathic premat...
متن کاملSignalling pathways mediating specific synergistic interactions between GDF9 and BMP15.
Growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) are two proteins selectively expressed in the oocyte which are essential for normal fertility. Both of these proteins are members of the transforming growth factor beta (TGF-β) superfamily and as such are produced as pre-proproteins, existing after proteolytic processing as a complex of the respective pro and matur...
متن کاملRole of microRNAs in premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unkno...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2019
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-019-01548-0