Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. - Wikidata - wikimedia - TriplyDB

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

http://www.wikidata.org/entity/Q37066070

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Mutation of SALL2 causes recessive ocular coloboma in humans and mice Eye development genes and known syndromes RAX and anophthalmia in humans: evidence of brain anomalies.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.The role of the Rx homeobox gene in retinal progenitor proliferation and cell fate specification.

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Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

http://www.wikidata.org/entity/Q37066070

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

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scientific article published on 21 January 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

@en

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

@nl

type

label

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

@en

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

@nl

prefLabel

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

@en

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

@nl

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Molecular Vision

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Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

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Bryan Williams

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

Elias I Traboulsi

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Gayle J Pauer

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Nikolas J S London

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Patricia Kessler

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Stephanie A Hagstrom

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P2860

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Heterozygous mutations of OTX2 cause severe ocular malformations

rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Xrx1 controls proliferation and neurogenesis in Xenopus anterior neural plate

rax, Hes1, and notch1 promote the formation of Müller glia by postnatal retinal progenitor cells

Tissue-specific regulation of retinal and pituitary precursor cell proliferation

Human non-synonymous SNPs: server and survey

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162-167

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scholarly article

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15

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2009-01-21T00:00:00Z

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2628315

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