Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome
نویسندگان
چکیده
منابع مشابه
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
CHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, growth delays, deaf-blindness, balance disorders and congenital heart malformations. Mutations in CHD7, the gene encoding chromodomain helicase DNA binding protein 7, are present in 60-80% of individuals with the CHARGE syndrome. Mutations in CHD7 have also been reported in the Kallma...
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Reproductive physiology of a humanized GnRH receptor mouse model: application in evaluation of human-specific analogs.
The human GnRH receptor (GNRHR1) has a specific set of properties with physiological and pharmacological influences not appropriately modeled in laboratory animals or cell-based systems. To address this deficiency, we have generated human GNRHR1 knock-in mice and described their reproductive phenotype. Measurement of pituitary GNRHR1 transcripts from homozygous human GNRHR1 knock-in (ki/ki) mic...
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Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with gliosis in several brain regions that usually results in infantile death. Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. Here, we report the...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2011
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddr216