Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
about
Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells.Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressureFunctional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseSevere defects in proliferation and differentiation of lens cells in Foxe3 null miceA mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani familyHomozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaIdentification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaFOXE3 plays a significant role in autosomal recessive microphthalmiaA novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomalyHomozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansMutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationPitx3 controls multiple aspects of lens developmentZebrafish--on the move towards ophthalmological researchMolecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.laminin alpha 1 gene is essential for normal lens development in zebrafish.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataractA new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.Transdifferentiation from cornea to lens in Xenopus laevis depends on BMP signalling and involves upregulation of Wnt signallingMolecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.Genetic effects on human cognition: lessons from the study of mental retardation syndromesClinical and experimental advances in congenital and paediatric cataracts.Chromosome abnormalities and the genetics of congenital corneal opacification.Keeping an eye on SOXC proteins.Long-read sequencing of chicken transcripts and identification of new transcript isoformsToward a better understanding of human eye disease insights from the zebrafish, Danio rerio.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaThe visual system of zebrafish and its use to model human ocular diseases.A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 geneAnterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesRegulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens.Analysis of FOXD3 sequence variation in human ocular disease.Expression of FoxE4 and Rx visualizes the timing and dynamics of critical processes taking place during initial stages of vertebrate eye development.Pax6 is misexpressed in Sox1 null lens fiber cells.In control of biology: of mice, men and FoxesGenetics of anterior segment dysgenesis disorders.FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.Targeted overexpression of TGF-α in the corneal epithelium of adult transgenic mice induces changes in anterior segment morphology and activates noncanonical Wnt signaling.
P2860
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P2860
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
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
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@ast
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@en
type
label
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@ast
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@en
prefLabel
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@ast
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@en
P2093
P356
P1476
Mutations in the human forkhea ...... ular dysgenesis and cataracts.
@en
P2093
Brownell I
Mintz-Hittner HA
P304
P356
10.1093/HMG/10.3.231
P577
2001-02-01T00:00:00Z