Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
about
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergencePAX6 gene variations associated with aniridia in south IndiaMissense mutation in the alternative splice region of the PAX6 gene in eye anomaliesMutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.Modulation of PAX6 homeodomain function by the paired domain3' deletions cause aniridia by preventing PAX6 gene expressionFurther delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutationsPAX8-mediated activation of the wt1 tumor suppressor geneSHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb developmentAlternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation propertiesCloning and characterization of two vertebrate homologs of the Drosophila eyes absent geneA new PAX6 mutation in familial aniridiaMolecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytesIdentification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaFurther elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two familiesMutation of the PAX6 gene in patients with autosomal dominant keratitisPaired box mutations in familial and sporadic aniridia predicts truncated aniridia proteinsrax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retinaPAX6 mutations: genotype-phenotype correlationsXenDB: full length cDNA prediction and cross species mapping in Xenopus laevis.Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA bindingSuperactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteinsPAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectsChromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomalyA mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 geneThe forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25Eye development and retinogenesisSumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain developmentDach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethalityNovel target sequences for Pax-6 in the brain-specific activating regions of the rat aldolase C geneSix3 activation of Pax6 expression is essential for mammalian lens induction and specificationMeis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesisAnalysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypesMolecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian familiesIsolation and expression of Pax6 and atonal homologues in the American horseshoe crab, Limulus polyphemusThe molecular basis of genetic dominanceThree novel PAX6 mutations in patients with aniridia.Hedgehog-dependent E3-ligase Midline1 regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development.The roles of calcium signaling and ERK1/2 phosphorylation in a Pax6+/- mouse model of epithelial wound-healing delay.
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P2860
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@ast
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@en
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@nl
type
label
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@ast
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@en
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@nl
prefLabel
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@ast
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@en
Genomic structure, evolutionar ...... tations in the human PAX6 gene
@nl
P2093
P2860
P3181
P356
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Genomic structure, evolutionar ...... tations in the human PAX6 gene
@en
P2093
P2860
P2888
P3181
P356
10.1038/NG1192-232
P407
P577
1992-11-01T00:00:00Z
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P6179
1043411634