Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
about
Anophthalmia and microphthalmiaABCB6 mutations cause ocular colobomaMutation of SALL2 causes recessive ocular coloboma in humans and miceHomozygous null mutation in ODZ3 causes microphthalmia in humansHeterozygous mutations of OTX2 cause severe ocular malformationsHomozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaEye morphogenesis and patterning of the optic vesicleFOXE3 plays a significant role in autosomal recessive microphthalmiaMutational screening of 10 genes in Chinese patients with microphthalmia and/or colobomaActivation of Wnt/ß-catenin signaling in ESC promotes rostral forebrain differentiation in vitro.First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeEye development and retinogenesisXenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character.Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.Cell-autonomous requirement for rx function in the mammalian retina and posterior pituitary.Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.The Rx-like homeobox gene (Rx-L) is necessary for normal photoreceptor development.Regulation of photoreceptor gene expression by the retinal homeobox (Rx) gene product.Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesGenes and signaling networks regulated during zebrafish optic vesicle morphogenesisNovel SOX2 partner-factor domain mutation in a four-generation familyExpression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.Generation of mRx-Cre transgenic mouse line for efficient conditional gene deletion in early retinal progenitors.The Retinal Homeobox (Rx) gene is necessary for retinal regeneration.Chromosome abnormalities and the genetics of congenital corneal opacification.Methods of Retinal Ganglion Cell Differentiation From Pluripotent Stem CellsMutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Rax : developmental and daily expression patterns in the rat pineal gland and retina.VSX2 mutations in autosomal recessive microphthalmiaOcular coloboma: a reassessment in the age of molecular neuroscience.Eye development genes and known syndromesDevelopment of extraocular muscles requires early signals from periocular neural crest and the developing eye.Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Rax Homeoprotein Regulates Photoreceptor Cell Maturation and Survival in Association with Crx in the Postnatal Mouse Retina.RAX and anophthalmia in humans: evidence of brain anomalies.Step-wise specification of retinal stem cells during normal embryogenesis.Expression of FoxE4 and Rx visualizes the timing and dynamics of critical processes taking place during initial stages of vertebrate eye development.
P2860
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P2860
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@ast
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@en
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@nl
type
label
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@ast
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@en
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@nl
prefLabel
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@ast
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@en
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@nl
P2093
P356
P1476
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
@en
P2093
Adele S Schneider
Christina M O'Kernick
Elena A Kozhemyakina
John V Linberg
Natan D Kahn
Peter H Mathers
Sharon L Wenger
Vera A Voronina
P304
P356
10.1093/HMG/DDH025
P577
2003-12-08T00:00:00Z