The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
about
FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domainAnalysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory geneSevere defects in proliferation and differentiation of lens cells in Foxe3 null miceOver- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismOvarian failure related to eukaryotic initiation factor 2B mutations.Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyFOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationMale sex determination: insights into molecular mechanismsContemporary genetic technologies and female reproductionFoxL2 and Smad3 coordinately regulate follistatin gene transcriptionSorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeDisruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotypeGDF6, a novel locus for a spectrum of ocular developmental anomaliesSatellog: a database for the identification and prioritization of satellite repeats in disease association studies.Genetics of the ovarian reserveGenetics of primary ovarian insufficiency: new developments and opportunitiesMolecular players involved in temperature-dependent sex determination and sex differentiation in Teleost fishFox tales: regulation of gonadotropin gene expression by forkhead transcription factorsThe genetic basis of female reproductive disorders: etiology and clinical testingInsights into female germ cell biology: from in vivo development to in vitro derivationsMicroRNAs Related to Polycystic Ovary Syndrome (PCOS)Mammalian sex determination—insights from humans and mice.The FOXL2 C134W mutation is characteristic of adult granulosa cell tumors of the ovary.The genetics of premature ovarian failure: current perspectivesHnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophyLimb malformations and the human HOX genesMutations in FOXL2 underlying BPES (types 1 and 2) in Colombian familiesThe ageing ovary and uterus: new biological insightsHeterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformationAnalyzing the coordinated gene network underlying temperature-dependent sex determination in reptilesSUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodiesFoxl2, a forkhead transcription factor, modulates nonclassical activity of the estrogen receptor-alphaLack of the central nervous system- and neural crest-expressed forkhead gene Foxs1 affects motor function and body weightFoxl2 is required for commitment to ovary differentiationAntagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in miceDMRT1 promotes oogenesis by transcriptional activation of Stra8 in the mammalian fetal ovaryA clinical research integration special program (CRISP) for young women with primary ovarian insufficiencyThe forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.The disparate origins of ovarian cancers: pathogenesis and prevention strategies.
P2860
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P2860
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@ast
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en-gb
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@nl
type
label
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@ast
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en-gb
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@nl
prefLabel
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@ast
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en-gb
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@nl
P2093
P3181
P356
P1433
P1476
The putative forkhead transcri ...... s/epicanthus inversus syndrome
@en
P2093
A Lienhardt-Roussie
D Schlessinger
L Crisponi
P2888
P304
P3181
P356
10.1038/84781
P407
P577
2001-02-01T00:00:00Z
P6179
1047482612