Heterozygous mutations of OTX2 cause severe ocular malformations
about
Anophthalmia and microphthalmiaOtx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degenerationMonoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsABCB6 mutations cause ocular colobomaMutation of SALL2 causes recessive ocular coloboma in humans and miceBEST1 expression in the retinal pigment epithelium is modulated by OTX family membersSMOC1 is essential for ocular and limb development in humans and miceARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesHomozygous null mutation in ODZ3 causes microphthalmia in humansNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionFOXE3 plays a significant role in autosomal recessive microphthalmiaExpression of the homeobox genes OTX2 and OTX1 in the early developing human brainMutational screening of 10 genes in Chinese patients with microphthalmia and/or colobomaGenetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutationA novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiencyGDF6, a novel locus for a spectrum of ocular developmental anomaliesDefining the role of essential genes in human diseaseHsp90 selectively modulates phenotype in vertebrate developmentLoss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeEye development and retinogenesisIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesExpression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closureA trans-acting protein effect causes severe eye malformation in the Mp mouseSOX2 is a dose-dependent regulator of retinal neural progenitor competenceThe shape of the human language-ready brainGene dosage of Otx2 is important for fertility in male mice.Pleiotropic functions for transcription factor zscan10.A new GFP-tagged line reveals unexpected Otx2 protein localization in retinal photoreceptors.A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentGenetic regulation of pituitary gland development in human and mouseMutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesExome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyPontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Novel SOX2 partner-factor domain mutation in a four-generation familyMutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
P2860
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P2860
Heterozygous mutations of OTX2 cause severe ocular malformations
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Heterozygous mutations of OTX2 cause severe ocular malformations
@ast
Heterozygous mutations of OTX2 cause severe ocular malformations
@en
Heterozygous mutations of OTX2 cause severe ocular malformations
@en-gb
Heterozygous mutations of OTX2 cause severe ocular malformations
@nl
type
label
Heterozygous mutations of OTX2 cause severe ocular malformations
@ast
Heterozygous mutations of OTX2 cause severe ocular malformations
@en
Heterozygous mutations of OTX2 cause severe ocular malformations
@en-gb
Heterozygous mutations of OTX2 cause severe ocular malformations
@nl
prefLabel
Heterozygous mutations of OTX2 cause severe ocular malformations
@ast
Heterozygous mutations of OTX2 cause severe ocular malformations
@en
Heterozygous mutations of OTX2 cause severe ocular malformations
@en-gb
Heterozygous mutations of OTX2 cause severe ocular malformations
@nl
P2093
P2860
P50
P356
P1476
Heterozygous mutations of OTX2 cause severe ocular malformations
@en
P2093
Alison G Brown
Alison Salt
Alistair Fielder
Birgit Lorenz
Charlotte M Poloschek
Dianne Gerrelli
Isabelle Russell-Eggitt
J Richard O Collin
Jane Hurst
Kathleen A Williamson
P2860
P304
P356
10.1086/430721
P407
P577
2005-04-21T00:00:00Z