primary ovarian insufficiency/proline

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New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients.

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Premature ovarian failure (POF) is defined as a cessation of ovarian function in women before the age of 40 years. POU5F1 has a critical role in regulating pluripotency in embryonic development and POU5F1 transcription factor is down-regulated more than 30-fold in the POF candidate gene Nobox

Growth differentiating factor-9 mutations may be associated with premature ovarian failure.

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OBJECTIVE To determine whether perturbations of the growth differentiating factor-9 (GDF9) gene are associated with premature ovarian failure (POF). METHODS Mutational analysis of the GDF9 gene in 61 women with POF. METHODS Academic institution. METHODS Sixty-one women with POF; 60 control

Mutational analysis of the FST gene in Chinese women with idiopathic premature ovarian failure.

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OBJECTIVE Recent animal studies have suggested that loss of follistatin (FST) may result in premature cessation of ovarian function. Our objective was to investigate whether mutations in the FST coding region are present in Chinese women with idiopathic premature ovarian failure (POF). METHODS The

Genetic investigation of four meiotic genes in women with premature ovarian failure.

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OBJECTIVE The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). METHODS Case-control study. METHODS Blood sampling,

A segregating human allele of SPO11 modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reserve†.

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A major challenge in medical genetics is to characterize variants of unknown significance (VUS). Doing so would help delineate underlying causes of disease and the design of customized treatments. Infertility has presented an especially difficult challenge with respect to not only determining if a

Forkhead l2 is expressed in the ovary and represses the promoter activity of the steroidogenic acute regulatory gene.

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Premature ovarian failure in a subgroup of women with blepharophimosis-ptosis-epicanthus inversus type 1 syndrome has been associated with nonsense mutations in the gene encoding a Forkhead transcription factor, Forkhead L2 (FOXL2). However, the exact function of FOXL2 in the ovary is unclear. We

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