The human PAX6 gene is mutated in two patients with aniridia - Wikidata - awgldk - TriplyDB

The human PAX6 gene is mutated in two patients with aniridia

The human PAX6 gene is mutated in two patients with aniridia

http://www.wikidata.org/entity/Q28207886

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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3 Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene A new PAX6 mutation in familial aniridia BMP4 is essential for lens induction in the mouse embryo Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia Mutation of the PAX6 gene in patients with autosomal dominant keratitis Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25 rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina PAX6 mutations: genotype-phenotype correlations Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 Pitx3 controls multiple aspects of lens development Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis Six3 activation of Pax6 expression is essential for mammalian lens induction and specification Vax genes ventralize the embryonic eye Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development Corneal avascularity is due to soluble VEGF receptor-1 Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype Thermal avoidance in Caenorhabditis elegans: an approach to the study of nociception Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.Analysis of the transcriptomes downstream of Eyeless and the Hedgehog, Decapentaplegic and Notch signaling pathways in Drosophila melanogaster Molecular biology of retinal ganglion cells.Transcription factors in dysmorphology.A fetus with an X;1 balanced reciprocal translocation and eye disease.A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

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P2860

The human PAX6 gene is mutated in two patients with aniridia

http://www.wikidata.org/entity/Q28207886

description

1992 nî lūn-bûn

@nan

1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի օգոստոսին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年论文

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name

The human PAX6 gene is mutated in two patients with aniridia

@ast

The human PAX6 gene is mutated in two patients with aniridia

@en

The human PAX6 gene is mutated in two patients with aniridia

@nl

type

label

The human PAX6 gene is mutated in two patients with aniridia

@ast

The human PAX6 gene is mutated in two patients with aniridia

@en

The human PAX6 gene is mutated in two patients with aniridia

@nl

prefLabel

The human PAX6 gene is mutated in two patients with aniridia

@ast

The human PAX6 gene is mutated in two patients with aniridia

@en

The human PAX6 gene is mutated in two patients with aniridia

@nl

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P1433

Nature Genetics

P1476

The human PAX6 gene is mutated in two patients with aniridia

@en

P2093

A Seawright

http://www.w3.org/2001/XMLSchema#string

D Zaletayev

http://www.w3.org/2001/XMLSchema#string

I Hanson

http://www.w3.org/2001/XMLSchema#string

J Prosser

http://www.w3.org/2001/XMLSchema#string

N Hastie

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S Hodgson

http://www.w3.org/2001/XMLSchema#string

T Jordan

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

Mouse small eye results from mutations in a paired-like homeobox-containing gene

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328-32

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scholarly article

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4285189

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10.1038/NG0892-328

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5

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1

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Veronica van Heyningen

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1992-08-01T00:00:00Z

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1302030

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