Differential apoptotic activities of wild-type FOXL2 and the adult-type granulosa cell tumor-associated mutant FOXL2 (C134W) [PDF]
Some mutations in FOXL2 result in premature ovarian failure accompanied by blepharophimosis, ptosis, epicanthus inversus syndrome type I disease, and FOXL2-null mice exhibit developmental defects in granulosa cells. Recently, FOXL2 c.402C>G, a new somatic mutation that leads to a p.C134W change, was found in the majority of adult-type ovarian granulosa
J-H, Kim +6 more
openaire +2 more sources
FOXL2: a central transcription factor of the ovary [PDF]
Forkhead box L2 (FOXL2) is a gene encoding a forkhead transcription factor preferentially expressed in the ovary, the eyelids and the pituitary gland. Its germline mutations are responsible for the blepharophimosis ptosis epicanthus inversus syndrome, which includes eyelid and mild craniofacial defects associated with primary ovarian insufficiency ...
Georges, Adrien +5 more
openaire +3 more sources
Foxl2 is required for commitment to ovary differentiation [PDF]
Genetic control of female sex differentiation from a bipotential gonad in mammals is poorly understood. We find that mouse XX gonads lacking the forkhead transcription factor Foxl2 form meiotic prophase oocytes, but then activate the genetic program for somatic testis determination.
Chris Ottolenghi +7 more
openaire +4 more sources
Uterine Foxl2 regulates the adherence of the Trophectoderm cells to the endometrial epithelium
Background Forkhead Transcription Factor L2 (FOXL2) is a member of the forkhead family with important roles in reproduction. Recent studies showed that FOXL2 is expressed in human and bovine endometrium and that its levels fluctuate during pregnancy.
Michal Elbaz +3 more
doaj +1 more source
Primary sex determination of placental mammals: a modelling study uncovers dynamical developmental constraints in the formation of Sertoli and granulosa cells [PDF]
Primary sex determination in placental mammals is a very well studied developmental process. Here, we aim to investigate the currently established scenario and to assess its adequacy to fully recover the observed phenotypes, in the wild type and ...
Chaouiya, Claudine, Sánchez, Lucas
core +2 more sources
Oocytes suppress FOXL2 expression in cumulus cells in mice† [PDF]
Abstract Cumulus cells and mural granulosa cells (MGCs) play distinct roles during follicular development, and normal development of these cell lineages is critical for the female fertility. Transcriptomic diversification between the two cell lineages is obviously a critical mechanism for their functional diversification; however, the ...
Chihiro, Emori +4 more
openaire +2 more sources
Background Three-spot wrasse, Halichoeres trimaculatus, is a marine protogynous hermaphrodite fish. Individuals mature either as initial phase (IP) males or females. Appropriate social cues induce the sex change from IP female to terminal phase (TP) male.
Kobayashi Yasuhisa +3 more
doaj +1 more source
ObjectiveTo characterize the status of ovarian reserve and ART outcomes in BPES women and provide informative reference for clinical diagnosis and treatment.MethodsTwenty-one women with BPES were screened for mutations in the FOXL2 gene and underwent ...
Tingting Meng +35 more
doaj +1 more source
Advances in non-germ cell tumours of the testis: focus on new molecular developments in sex cord-stromal tumours. [PDF]
In this review, we summarise the major recent advances in Testicular Sex Cord‐Stromal Tumours, focusing on molecular alterations and biomarkers relevant for diagnosis, classification and prognosis. Testicular sex cord‐stromal tumours (TSCSTs) represent ~4%–8% of all testicular neoplasms.
Lobo J, Acosta AM.
europepmc +2 more sources
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome [PDF]
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study.
A v Cruz, A +7 more
core +1 more source

