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A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies3' deletions cause aniridia by preventing PAX6 gene expressionFurther delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutationsThe prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.Pax6 3' deletion results in aniridia, autism and mental retardationAdaptation of the central retina for high acuity vision: cones, the fovea and the avascular zoneCrystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA bindingFunctional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferationThree novel PAX6 mutations in patients with aniridia.Glaucoma genetics, present and future.The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.Abnormal retinal development associated with FRMD7 mutations.Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformationsAutosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors.Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.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.PAX6 expression in the developing human eyeInteraction between Pax6 and its novel mutant in Bufo raddei StrauchPAX6 and congenital eye malformations.Analysis of corneal morphologic and pathologic changes in early-stage congenital aniridic keratopathyGenotype-phenotype correlation of PAX6 gene mutations in aniridiaPAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific GenesRelationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculusAssessment of PAX6 alleles in 66 families with aniridia.A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.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.Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.'Congenital' nystagmus may hide various ophthalmic diagnoses.Detailed functional and structural characterization of a macular lesion in a rhesus macaque.Assessing the spatial relationship between fixation and foveal specializations.Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.Transcription factor genes and the developing eye: a genetic perspective.Homeobox genes in embryogenesis and pathogenesis.Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.Facilitated DNA search by multidomain transcription factors: cross talk via a flexible linker.
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
PAX6 missense mutation in isolated foveal hypoplasia
@ast
PAX6 missense mutation in isolated foveal hypoplasia
@en
PAX6 missense mutation in isolated foveal hypoplasia
@nl
type
label
PAX6 missense mutation in isolated foveal hypoplasia
@ast
PAX6 missense mutation in isolated foveal hypoplasia
@en
PAX6 missense mutation in isolated foveal hypoplasia
@nl
prefLabel
PAX6 missense mutation in isolated foveal hypoplasia
@ast
PAX6 missense mutation in isolated foveal hypoplasia
@en
PAX6 missense mutation in isolated foveal hypoplasia
@nl
P2093
P2860
P356
P1433
P1476
PAX6 missense mutation in isolated foveal hypoplasia
@en
P2093
P2860
P2888
P356
10.1038/NG0696-141
P407
P577
1996-06-01T00:00:00Z