Functional analysis of human mutations in homeodomain transcription factor PITX3
about
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.Embryonic stem cell-derived Pitx3-enhanced green fluorescent protein midbrain dopamine neurons survive enrichment by fluorescence-activated cell sorting and function in an animal model of Parkinson's disease.Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Human pituitary homeobox-3 gene in congenital cataract in a Chinese family.A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.Microarray-based identification of Pitx3 targets during Xenopus embryogenesis.Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization
P2860
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P2860
Functional analysis of human mutations in homeodomain transcription factor PITX3
description
2007 nî lūn-bûn
@nan
2007 թուականին հրատարակուած գիտական յօդուած
@hyw
2007 թվականին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Functional analysis of human mutations in homeodomain transcription factor PITX3
@ast
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en-gb
Functional analysis of human mutations in homeodomain transcription factor PITX3
@nl
type
label
Functional analysis of human mutations in homeodomain transcription factor PITX3
@ast
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en-gb
Functional analysis of human mutations in homeodomain transcription factor PITX3
@nl
prefLabel
Functional analysis of human mutations in homeodomain transcription factor PITX3
@ast
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en-gb
Functional analysis of human mutations in homeodomain transcription factor PITX3
@nl
P2093
P2860
P356
P1476
Functional analysis of human mutations in homeodomain transcription factor PITX3
@en
P2093
Elena Sorokina
Satoru Sakazume
Yoshiki Iwamoto
P2860
P2888
P356
10.1186/1471-2199-8-84
P407
P577
2007-01-01T00:00:00Z
P5875
P6179
1006599889