Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
about
The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3Pax6 3' deletion results in aniridia, autism and mental retardationPleiotropic effects of Sox2 during the development of the zebrafish epithalamusEye development and retinogenesisVon Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular developmentPleiotropic functions for transcription factor zscan10.Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromePbx homeodomain proteins pattern both the zebrafish retina and tectum.A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasisSox2 acts as a rheostat of epithelial to mesenchymal transition during neural crest development.A transcriptome for the study of early processes of retinal regeneration in the adult newt, Cynops pyrrhogaster.Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeMatrix metalloproteinase 14 in the zebrafish: an eye on retinal and retinotectal development.Clinical and experimental advances in congenital and paediatric cataracts.The cellular and molecular mechanisms of vertebrate lens development.Unilateral microphthalmia or anophthalmia in eight pythons (Pythonidae).Eye development genes and known syndromesRegulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding siteMolecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Characterization of Progenitor Cells during Canine Retinal Development.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeRegional Volume Decreases in the Brain of Pax6 Heterozygous Mutant Rats: MRI Deformation-Based MorphometryDistinct embryonic expression and localization of CBP and p300 histone acetyltransferases at the mouse alphaA-crystallin locus in lens.Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation.Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression.Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkKaryopherins in nuclear transport of homeodomain proteins during development.Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Chiasm formation in man is fundamentally different from that in the mouse.A practical guide to the management of anophthalmia and microphthalmia.Differentiation of Induced Pluripotent Stem Cells to Neural Retinal Precursor Cells on Porous Poly-Lactic-co-Glycolic Acid Scaffolds.Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis.A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.
P2860
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P2860
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@ast
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@en
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@nl
type
label
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@ast
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@en
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@nl
prefLabel
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@ast
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@en
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@nl
P2860
P3181
P1433
P1476
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
@en
P2093
K A Williamson
P2860
P304
P3181
P356
10.1111/J.1399-0004.2006.00619.X
P407
P577
2006-06-01T00:00:00Z