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PAX6 gene variations associated with aniridia in south IndiaMutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.A new PAX6 mutation in familial aniridiaDeletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13Mutation of the PAX6 gene in patients with autosomal dominant keratitisPaired box mutations in familial and sporadic aniridia predicts truncated aniridia proteinsPAX6 mutations: genotype-phenotype correlationsEye development and retinogenesisCommon variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucomaOcular abnormalities in mice lacking the immunoglobulin superfamily member CdoBarrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locusThe incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+/-) mouse model of aniridiaPAX6 and congenital eye malformations.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.Step-wise specification of retinal stem cells during normal embryogenesis.PAX6 analysis of two sporadic patients from southern China with classic aniridia.Spatial organization of active and inactive genes and noncoding DNA within chromosome territories.Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Assessment of PAX6 alleles in 66 families with aniridia.optix functions as a link between the retinal determination network and the dpp pathway to control morphogenetic furrow progression in Drosophila.Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.Stem/progenitor cells in the developing human cerebellum: an immunohistochemical study.The PAX2 tanscription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformationsMutational analysis of the eyeless gene and phenotypic rescue reveal that an intact Eyeless protein is necessary for normal eye and brain development in Drosophila.Immunohistological markers for proliferative events, gliogenesis, and neurogenesis within the adult hippocampus.Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5).A new set of primers for mutation analysis of the human PAX6 gene.Dissection of the transactivation function of the transcription factor encoded by the eye developmental gene PAX6.Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets.Genetics of aniridia and anterior segment dysgenesisLIM Homeobox Domain 2 Is Required for Corneal Epithelial Homeostasis.Molecular analysis of a human PAX6 homeobox mutant.Genetics of chromosome 11: loci for pediatric and adult malignancies, developmental disorders, and other diseases.
P2860
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P2860
description
1993 nî lūn-bûn
@nan
1993 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
PAX6 mutations in aniridia
@ast
PAX6 mutations in aniridia
@en
PAX6 mutations in aniridia
@nl
type
label
PAX6 mutations in aniridia
@ast
PAX6 mutations in aniridia
@en
PAX6 mutations in aniridia
@nl
prefLabel
PAX6 mutations in aniridia
@ast
PAX6 mutations in aniridia
@en
PAX6 mutations in aniridia
@nl
P2093
P3181
P356
P1476
PAX6 mutations in aniridia
@en
P2093
A Seawright
D Zaletayev
V van Heyningen
P304
P3181
P356
10.1093/HMG/2.7.915
P407
P50
P577
1993-07-01T00:00:00Z