Hypergonadotropic Ovarian Failure Associated with an Inherited Mutation of Human Bone Morphogenetic Protein-15 (BMP15) Gene
نویسندگان
چکیده
منابع مشابه
mutation analysis of exon1 of bone morphogenetic protein-15 gene in iranian patients with polycystic ovarian syndrome
background: with the prevalence of 6-10%, polycystic ovarian syndrome (pcos) is considered the most common endocrinological disorder affecting women in their reproductive age. it has been suggested that genetic factors participate in the development of pcos. follicular development has been considered as one of the impaired processes in pcos. bone morphogenetic protein-15 (bmp-15) gene is a cand...
متن کاملpolymorphism of exon 2 of bone morphogenetic protein 15 gene (bmp15) and its relationship with litter size in najdi goat
this study was conducted to detect polymorphism of gene bmp15, a member of transforming growthfactor β (tgfβ) family which has a crucial role in controlling the ovarian follicles development,ovulation rate and fertility. samples were randomly selected from 91 najdi goats in 3 geographicallocations, northwest, southeast and center of khuzestan province. after dna extraction, amplification of235 ...
متن کاملPositive Selection in Bone Morphogenetic Protein 15 Targets a Natural Mutation Associated with Primary Ovarian Insufficiency in Human
Bone Morphogenetic Protein 15 (BMP15) is a TGFβ-like oocyte-derived growth factor involved in ovarian folliculogenesis as a critical regulator of many granulosa cell processes. Alterations of the BMP15 gene have been found associated with different ovarian phenotypic effects depending on the species, from sterility to increased prolificacy in sheep, slight subfertility in mouse or associated wi...
متن کاملInherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telomerase localization to telomeres requires an interaction with a region on the surface of the telome...
متن کاملMutation analysis of exon1 of bone morphogenetic protein-15 gene in Iranian patients with polycystic ovarian syndrome
BACKGROUND With the prevalence of 6-10%, polycystic ovarian syndrome (PCOS) is considered the most common endocrinological disorder affecting women in their reproductive age. It has been suggested that genetic factors participate in the development of PCOS. Follicular development has been considered as one of the impaired processes in PCOS. Bone morphogenetic protein-15 (BMP-15) gene is a candi...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2004
ISSN: 0002-9297
DOI: 10.1086/422103