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oligospermia/prolina
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7 resultados
The in vivo role of androgen receptor SUMOylation as revealed by androgen insensitivity syndrome and prostate cancer mutations targeting the proline/glycine residues of synergy control motifs.
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The androgen receptor (AR) mediates the effects of male sexual hormones on development and physiology. Alterations in AR function are central to reproductive disorders, prostate cancer, and Kennedy disease. AR activity is influenced by post-translational modifications, but their role in AR-based
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
Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins.
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OBJECTIVE
To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for dioxin-related male infertility.
METHODS
Association study of male
Characterizing semen abnormality male infertility using non-targeted blood plasma metabolomics.
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Semen abnormality (SA) male infertility has become a worldwide reproductive health problem. The invasive tests (e.g., testicular biopsy) and labor-intensive methods of semen collection severely inhibit diagnosis of male infertility. In addition, the pathogenesis and biological interpretation of male
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
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OBJECTIVE
DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo-pituitary-gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men.
Identification of biochemical differences between different forms of male infertility by nuclear magnetic resonance (NMR) spectroscopy.
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OBJECTIVE
The aim of this study was to analyze the seminal plasma of patients with idiopathic/male factor infertility and healthy controls with proven fertility by NMR spectroscopy, with a hope of establishing difference in biomarker profiles, if any, between the groups.
METHODS
A total of 103
Association of a novel human mtDNA ATPase6 mutation with immature sperm cells.
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This study reports the first clearly defined heteroplasmic mutation in immature human sperm cells. The human sperm mitochondrial genome from residue 8186-9341 was analysed with the aim of identifying point mutations which may be associated with human male infertility. The semen samples analysed were
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