Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
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Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergenceGenomic analysis of mouse retinal development3' deletions cause aniridia by preventing PAX6 gene expressionIdentification of a dominant negative homeodomain mutation in Rieger syndromeMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaPAX6 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 bindingPhosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2Recognition and management of childhood cancer syndromes: a systems approach.Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformationsA 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 homeostasisUsing protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example.Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36.Mutation spectrum of PAX6 in Chinese patients with aniridia.PAX6 and congenital eye malformations.Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 geneGenetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeFunctional properties of natural human PAX6 and PAX6(5a) mutantsAniridia.A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.Genetics of anterior segment dysgenesis disorders.Karyopherins in nuclear transport of homeodomain proteins during development.Assessment of PAX6 alleles in 66 families with aniridia.Analysis of compound heterozygotes reveals that the mouse floxed Pax6 (tm1Ued) allele produces abnormal eye phenotypes.Effects of elevated Pax6 expression and genetic background on mouse eye development.Eye anomalies and neurological manifestations in patients with PAX6 mutations.Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disordersPrimary congenital and developmental glaucomas.'Congenital' nystagmus may hide various ophthalmic diagnoses.Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.Ophthalmology in the post-genomic era
P2860
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P2860
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Missense mutations in the most ...... congenital eye malformations.
@en
Missense mutations in the most ...... congenital eye malformations.
@nl
type
label
Missense mutations in the most ...... congenital eye malformations.
@en
Missense mutations in the most ...... congenital eye malformations.
@nl
prefLabel
Missense mutations in the most ...... congenital eye malformations.
@en
Missense mutations in the most ...... congenital eye malformations.
@nl
P2093
P356
P1476
Missense mutations in the most ...... n congenital eye malformations
@en
P2093
P304
P356
10.1093/HMG/8.2.165
P577
1999-02-01T00:00:00Z