A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
about
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thicknessHaploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressureAnalyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1FOXC1 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 mannerEssential 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 dysgenesisA novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomalyGDF6, a novel locus for a spectrum of ocular developmental anomaliesPhenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairmentZebrafish foxc1a drives appendage-specific neural circuit development.Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 geneMutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisComparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger SyndromeFOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variabilitySelection of thermodynamic models for combinatorial control of multiple transcription factors in early differentiation of embryonic stem cellsAn unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.Long-range control of gene expression: emerging mechanisms and disruption in disease.Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsGenetic effects on human cognition: lessons from the study of mental retardation syndromesArray-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.Genetic and genomic analysis of classic aniridia in Saudi Arabia.Clinical and experimental advances in congenital and paediatric cataracts.Copy number variations on chromosome 12q14 in patients with normal tension glaucomaCopy number variations and primary open-angle glaucoma.Loss of Foxm1 Results in Reduced Somatotrope Cell Number during Mouse Embryogenesis.Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesCortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development.Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersChromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.Inherited corneal disease: the evolving molecular, genetic and imaging revolution.FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.Genetics of anterior segment dysgenesis disorders.Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndromeA novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
P2860
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P2860
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
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
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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
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@ast
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en-gb
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@nl
type
label
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@ast
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en-gb
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@nl
prefLabel
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@ast
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en-gb
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@nl
P2093
P2860
P3181
P356
P1476
A spectrum of FOXC1 mutations ...... he anterior chamber of the eye
@en
P2093
C C Searby
D A Mackey
D Y Nishimura
V C Sheffield
P2860
P304
P3181
P356
10.1086/318183
P407
P577
2001-02-01T00:00:00Z