Results 31 to 40 of about 7,684 (200)

Molecular manipulation of keratin 8/18 intermediate filaments: modulators of FAS-mediated death signaling in human ovarian granulosa tumor cells [PDF]

, 2016
Background: Granulosa cell tumors (GCT) are a rare ovarian neoplasm but prognosis is poor following recurrence. Keratin intermediate filaments expressed in these tumors are a diagnostic marker, yet paradoxically, may also constitute a target for ...
Davis, John S., Hou, Xiaoying, Schwab, Nicolette M., Townson, David H., Trisdale, Sarah K.   +4 more
core   +3 more sources

The pathognomonic FOXL2 C134W mutation alters DNA binding specificity [PDF]

Cancer Research, 2020
AbstractThe somatic missense point mutation c.402C>G (p.C134W) in the FOXL2 transcription factor is pathognomonic for adult-type granulosa cell tumours (AGCT) and a diagnostic marker for this tumour type. However, the molecular consequences of this mutation and its contribution to the mechanisms of AGCT pathogenesis remain unclear.
Annaïck Carles, Genny Trigo-Gonzalez, Qi Cao, S.-W. Grace Cheng, Michelle Moksa, Misha Bilenky, David G. Huntsman, Gregg B. Morin, Martin Hirst   +8 more
openaire   +2 more sources

FOXL2mutations and genomic rearrangements in BPES [PDF]

Human Mutation, 2009
The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (
Diane, Beysen, Anne, De Paepe, Elfride, De Baere   +2 more
openaire   +2 more sources

Aromatase is a direct target of FOXL2: C134W in granulosa cell tumors via a single highly conserved binding site in the ovarian specific promoter.

PLoS ONE, 2010
BackgroundGranulosa cell tumors (GCT) of the ovary often express aromatase and synthesize estrogen, which in turn may influence their progression. Recently a specific point mutation (C134W) in the FOXL2 protein was identified in >94% of adult-type GCT ...
Nicholas I Fleming, Kevin C Knower, Kyren A Lazarus, Peter J Fuller, Evan R Simpson, Colin D Clyne   +5 more
doaj   +1 more source

Constitutively active transforming growth factor β receptor 1 in the mouse ovary promotes tumorigenesis [PDF]

, 2016
Despite the well-established tumor suppressive role of TGFβ proteins, depletion of key TGFβ signaling components in the mouse ovary does not induce a growth advantage.
Bartholin, Laurent, Davis, Anna Jane, Gao, Yang, Li, Qinglei, Sansom, Owen, Vincent, David   +5 more
core   +1 more source

WNT4, RSPO1, and FOXL2 in Sex Development [PDF]

Seminars in Reproductive Medicine, 2012
The idea that the female sexual development happens by default was born in the middle of the last century after Jost performed his innovative experiments to study the bases of differentiation of the reproductive tract and found that the female reproductive tract develops even in the absence of any gonad.
openaire   +2 more sources

The CpG island in the murine foxl2 proximal promoter is differentially methylated in primary and immortalized cells. [PDF]

PLoS ONE, 2013
Forkhead box L2 (Foxl2), a member of the forkhead transcription factor family, plays important roles in pituitary follicle-stimulating hormone synthesis and in ovarian maintenance and function. Mutations in the human FOXL2 gene cause eyelid malformations
Stella Tran, Ying Wang, Pankaj Lamba, Xiang Zhou, Ulrich Boehm, Daniel J Bernard   +5 more
doaj   +1 more source

Regulation of reproduction via tight control of gonadotropin hormone levels. [PDF]

, 2018
Mammalian reproduction is controlled by the hypothalamic-pituitary-gonadal axis. GnRH from the hypothalamus regulates synthesis and secretion of gonadotropins, LH and FSH, which then control steroidogenesis and gametogenesis. In females, serum LH and FSH
Coss, Djurdjica
core   +1 more source

Role of Foxl2 in uterine maturation and function [PDF]

Human Molecular Genetics, 2015
Foxl2 codes for a forkhead/HNF3 transcription factor essential for follicular maturation and maintenance of ovarian identity. FOXL2 mutations are associated with Blepharophimosis, Ptosis and Epicanthus inversus Syndrome (BPES) characterized by eyelid malformations (types I and II) and premature ovarian insufficiency (type I).
Bellessort, Brice, Bachelot, Anne, Heude, Eglantine, Alfama, Gladys, Fontaine, Anastasia, Le Cardinal, Marine, Treier, Mathias, Levi, Giovanni   +7 more
openaire   +3 more sources

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

BMC Medical Genetics, 2018
Background Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare inheritable disease that mainly affects eyelid development associated with (type I) or without (type II) ovarian dysfunction, resulting in premature ovarian failure (POF).
Lu Zhou, Jiaqi Wang, Tailing Wang
doaj   +1 more source