Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
about
Heterozygous mutations of OTX2 cause severe ocular malformationsIdentification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaPax6 3' deletion results in aniridia, autism and mental retardationGDF6, a novel locus for a spectrum of ocular developmental anomaliesIdentification of differentially expressed genes in mouse Pax6 heterozygous lenses.Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridiaCanonical and alternative transcript expression of PAX6 and CXCR4 in pancreatic cancer.Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformationsIris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genesThe expression of Pax6 variants is subject to posttranscriptional regulation in the developing mouse eyelid.A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotypeGene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma.Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityPAX6 and congenital eye malformations.Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Transcriptomic analysis of PNN- and ESRP1-regulated alternative pre-mRNA splicing in human corneal epithelial cellsGenotype-phenotype correlation of PAX6 gene mutations in aniridiaPAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific GenesSIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculusAssessment of PAX6 alleles in 66 families with aniridia.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Hereditary pediatric cataract on the Arabian Peninsula.PAX6 is expressed in pancreatic cancer and actively participates in cancer progression through activation of the MET tyrosine kinase receptor gene.Positive angle kappa: a possible sign of aniridia.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Beta1-integrin signaling is essential for lens fiber survivalAxenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.PAX6, paired domain influences sequence recognition by the homeodomain.A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.Variable expressivity of ocular associations of foveal hypoplasia in a family.The genetics of aniridia - simple things become complicated.Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity.Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
P2860
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P2860
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@ast
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en-gb
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@nl
type
label
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@ast
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en-gb
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@nl
prefLabel
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@ast
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en-gb
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@nl
P2093
P2860
P356
P1476
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
@en
P2093
P2860
P304
P356
10.1086/302529
P407
P577
1999-09-01T00:00:00Z