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Foxl2 function in ovarian development
Molecular Genetics and Metabolism, 2006Foxl2 is a forkhead transcription factor essential for proper reproductive function in females. Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and premature ovarian failure in females.
Nina Henriette, Uhlenhaut +1 more
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FOXL2 in Human Endometrium: Hyperexpressed in Endometriosis
Reproductive Sciences, 2014The present study investigated expression and protein localization of FOXL2 messenger RNA (mRNA) in endometrium of healthy women and in patients with endometriosis during endometrial cycle. In endometriotic lesions, FOXL2 mRNA and protein were evaluated and a possible correlation with activin A mRNA expression changes was also studied.
Governini, Laura +9 more
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FOXL2: a gene central to ovarian function
Journal of Clinical Pathology, 2023The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in blepharophimosis/ptosis/epicanthus inversus syndrome.
Aysha, Mubeen, Carlos, Parra-Herran
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Adult-Type Granulosa Cell Tumors and FOXL2 Mutation
Cancer Research, 2009Abstract Little is known about the pathogenesis of ovarian granulosa cell tumors. Recently, we reported the identification of a somatic FOXL2 402C→G mutation that is present in virtually all adult-type granulosa cell tumors, but not in a wide range of other tumor types.
Martin, Köbel +2 more
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The forkhead factor FOXL2: A novel tumor suppressor?
Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, 2010FOXL2 is a gene encoding a forkhead transcription factor, whose germline mutations are responsible for the blepharophimosis ptosis epicanthus inversus syndrome. We have previously shown that expression levels of FOXL2 in a series of juvenile ovarian granulosa cell tumors (OGCTs) were markedly reduced.
Benayoun, Bérénice A +3 more
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FOXL2 impairment in human disease.
Hormone research in paediatrics, 2012FOXL2 encodes a forkhead transcription factor that plays important roles in the ovary during development and in post-natal, adult life. Here, we focus on the clinical consequences of FOXL2 impairment in human disease. In line with other forkhead transcription factors, its constitutional genetic defects and a somatic mutation lead to developmental ...
Hannah, Verdin, Elfride, De Baere
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FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)
Translational Research, 2011Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding
Jia-Yan, Fan +5 more
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The Genetics and Biology of FOXL2.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2022FOXL2 encodes a transcription factor that regulates a wide array of target genes including those involved in sex development, eyelid development, ovarian function and maintenance, genomic integrity as well as cellular pathways such as cell-cycle progression, proliferation, and apoptosis.
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