Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency
نویسندگان
چکیده
منابع مشابه
Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying...
متن کاملIncreased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.
BACKGROUND The FMR1 premutation is associated with overt primary ovarian insufficiency (POI). However, its prevalence in women with occult POI (i.e. menstrual cycles, but impaired ovarian response) has not been examined. We hypothesized that both the FMR1 premutation and intermediate allele is more frequent in infertile women with occult POI than in controls, and that a repeat length cutoff mig...
متن کاملFragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.
Spontaneous 46,XX primary ovarian insufficiency (POI), also known as 'premature menopause' or 'premature ovarian failure', refers to ovarian dysfunction that results in a range of abnormalities, from infertility to early menopause as the end stage. The most common known genetic cause of POI is the expansion of a CGG repeat to 55-199 copies (premutation) in the 5' untranslated region in the X-li...
متن کاملPrimary Ovarian Insufficiency
Primary ovarian insufficiency or premature menopause is one of the stressful problems in women younger than 40, which may cause numerous early or late psychological and physical complications. Failure of germ cell development is associated with complete ovarian insufficiency, while their decreased number is more likely associated with partial ovarian insufficiency, which leads to secondary amen...
متن کاملPrimary Ovarian Insufficiency
From the Integrative Reproductive Medi cine Unit, Intramural Research Program on Reproductive and Adult Endocrinology, National Institute of Child Health and Hu man Development, National Institutes of Health, Bethesda, MD. Address reprint requests to Dr. Nelson at the Integrative Reproductive Medicine Unit, NICHD– Intramural Research Program on Repro ductive and Adult Endocrinology, CRC, Rm....
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ژورنال
عنوان ژورنال: Journal of Histochemistry & Cytochemistry
سال: 2012
ISSN: 0022-1554,1551-5044
DOI: 10.1369/0022155412441002