Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
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Modeling congenital disease and inborn errors of development in Drosophila melanogasterThe complexity of epigenetic diseasesSustained Pax6 Expression Generates Primate-like Basal Radial Glia in Developing Mouse NeocortexVariants in TRIM44 Cause Aniridia by Impairing PAX6 ExpressionAbnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cellsDevelopment and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.Genomic perspectives of transcriptional regulation in forebrain development.Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeThe Gene Regulatory Network of Lens Induction Is Wired through Meis-Dependent Shadow Enhancers of Pax6.Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development.PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.Explaining the disease phenotype of intergenic SNP through predicted long range regulation.The Shh Topological Domain Facilitates the Action of Remote Enhancers by Reducing the Effects of Genomic DistancesA nonsense PAX6 mutation in a family with congenital aniridia.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Eukaryotic enhancers: common features, regulation, and participation in diseases.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Gene regulation during development in the light of topologically associating domains.The zebrafish eye-a paradigm for investigating human ocular genetics.Looking beyond the genes: the role of non-coding variants in human disease.Primary congenital and developmental glaucomas.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.SBE6: a novel long-range enhancer involved in driving sonic hedgehog expression in neural progenitor cellsStructural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisClinical utility gene card for: Aniridia.Signaling and Gene Regulatory Networks in Mammalian Lens Development.PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.The genetics of aniridia - simple things become complicated.Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.Mapping of Human FOXP2 Enhancers Reveals Complex Regulation.PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.De novo mutations in regulatory elements in neurodevelopmental disorders.Functional characteristics of novel pancreatic Pax6 regulatory elements
P2860
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P2860
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@ast
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@en
type
label
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@ast
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@en
prefLabel
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@ast
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@en
P2093
P2860
P1476
Disruption of autoregulatory f ...... PAX6 enhancer causes aniridia.
@en
P2093
Alison Brown
Guiseppe Damante
Hemant Bengani
Margaret Fish
Maria Teresa Divizia
Riccardo de Marco
Robert Grainger
Shipra Bhatia
P2860
P304
P356
10.1016/J.AJHG.2013.10.028
P407
P577
2013-11-27T00:00:00Z