about
Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells.PAX6 gene variations associated with aniridia in south India3' deletions cause aniridia by preventing PAX6 gene expressionActivation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1PAX6 mutations: genotype-phenotype correlationsCrystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA bindingCell autonomous roles for AP-2alpha in lens vesicle separation and maintenance of the lens epithelial cell phenotypeThe expression analysis of Sfrs10 and Celf4 during mouse retinal developmentThe tumor suppressor merlin is required for cell cycle exit, terminal differentiation, and cell polarity in the developing murine lensXenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.Keratopathy, cataract, and dry eye in a survey of aniridia subjects.Three novel PAX6 mutations in patients with aniridia.Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation.Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6.Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridiaEffects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasisA locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.Clinical features of Korean patients with congenital aniridia.Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotypeMolecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster.Genetic and genomic analysis of classic aniridia in Saudi Arabia.Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.PAX6 gene analysis in irido-fundal coloboma.Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesA recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.Regulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens.Proanthocyanidins Prevent High Glucose-Induced Eye Malformation by Restoring Pax6 Expression in Chick Embryo.A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Functional properties of natural human PAX6 and PAX6(5a) mutantsTranscriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development.Pax6 is misexpressed in Sox1 null lens fiber cells.Genetics of anterior segment dysgenesis disorders.Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998 թուականին հրատարակուած գիտական յօդուած
@hyw
1998 թվականին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
PAX6 mutations reviewed
@ast
PAX6 mutations reviewed
@en
PAX6 mutations reviewed
@nl
type
label
PAX6 mutations reviewed
@ast
PAX6 mutations reviewed
@en
PAX6 mutations reviewed
@nl
prefLabel
PAX6 mutations reviewed
@ast
PAX6 mutations reviewed
@en
PAX6 mutations reviewed
@nl
P3181
P1433
P1476
PAX6 mutations reviewed
@en
P2093
V van Heyningen
P304
P3181
P356
10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.3.CO;2-J
P407
P577
1998-01-01T00:00:00Z