Variation analysis of PRIM1 gene in Chinese patients with primary ovarian insufficiency

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O-31: AMH and AMHR2 Genetic Variants in Chinese Women with Primary Ovarian Insufficiency and Normal Age at Natural Menopause

Background To investigate the role of the anti-Müllerian hormone (AMH) signalling pathway in the pathophysiology of idiopathic primary ovarian insufficiency (POI) and age at natural menopause (ANM) using a genetic approach MaterialsAndMethods DNA sequencing was used to detect the genotype distribution and allele frequency of the genes AMH and AMH receptor II (AMHR2) in 120 cases of idiopathic P...

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Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

Primary ovarian insufficiency (POI), also known as premature ovarian failure (POF), is defined as more than six months of cessation of menses before the age of 40 years, with two serum follicle stimulating hormone (FSH) levels (at least 1 month apart) falling in the menopause range. The cause of POI remains undetermined in the majority of cases, although some studies have reported increased lev...

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P-246: Gene Variation of TLR4 in Patients with Endometriosis

Background: Endometriosis, defined as the presence of endometrial tissue outside of the uterus, is an estrogen-dependent chronic inflammatory condition associated with degrees of pelvic pain and infertility. Toll-like receptors play a key role in immune response, by regulating inflammatory reactions and activating adaptive immune response to eliminate infectious pathogens and cancer debris. Pol...

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Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency

OBJECTIVE The XIST gene is considered to be an attractive candidate gene for skewed X-chromosome inactivation and a possible cause of primary ovarian insufficiency (POI). The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population. METHODS Subjects consisted of 102 idiopathic POI patients and 113 h...

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ژورنال

عنوان ژورنال: Reproductive BioMedicine Online

سال: 2016

ISSN: 1472-6483

DOI: 10.1016/j.rbmo.2016.08.017