The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
about
Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressureMutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicleMutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndromeAnalyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesisFOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domainFOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated mannerNovel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome familyEssential structural and functional determinants within the forkhead domain of FOXC1Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesisDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndromeSevere defects in proliferation and differentiation of lens cells in Foxe3 null miceMutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaChromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucomaA spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eyeComparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneMolecular cloning and characterization of rat genes encoding homologues of human beta-defensinsLmx1b is essential for survival of periocular mesenchymal cells and influences Fgf-mediated retinal patterning in zebrafishGDF6, a novel locus for a spectrum of ocular developmental anomaliesGene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regionsThe mouse anterior chamber angle and trabecular meshwork develop without cell deathPhenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairmentRare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and ManagementA Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growthFoxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 geneForkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiationThe evolution of Fox genes and their role in development and diseaseThe transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossificationMutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisRegulation of FOXC1 stability and transcriptional activity by an epidermal growth factor-activated mitogen-activated protein kinase signaling cascadeFOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformationComparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger SyndromeHypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variabilityLocalization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucomaGenetic variations strongly influence phenotypic outcome in the mouse retina.Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
P2860
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P2860
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
The forkhead transcription fac ...... a phenotypes which map to 6p25
@ast
The forkhead transcription fac ...... a phenotypes which map to 6p25
@en
The forkhead transcription fac ...... a phenotypes which map to 6p25
@nl
type
label
The forkhead transcription fac ...... a phenotypes which map to 6p25
@ast
The forkhead transcription fac ...... a phenotypes which map to 6p25
@en
The forkhead transcription fac ...... a phenotypes which map to 6p25
@nl
prefLabel
The forkhead transcription fac ...... a phenotypes which map to 6p25
@ast
The forkhead transcription fac ...... a phenotypes which map to 6p25
@en
The forkhead transcription fac ...... a phenotypes which map to 6p25
@nl
P2093
P2860
P3181
P356
P1433
P1476
The forkhead transcription fac ...... a phenotypes which map to 6p25
@en
P2093
C C Searby
D Y Nishimura
J M Gastier
R E Swiderski
S R Bennet
V C Sheffield
W L Alward
P2860
P2888
P3181
P356
10.1038/493
P407
P577
1998-06-01T00:00:00Z
P5875
P6179
1006736186