Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
about
Functional analysis of human mutations in homeodomain transcription factor PITX3Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaMicrophthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataractAbsence 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.Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationCat-Map: putting cataract on the mapClinical and experimental advances in congenital and paediatric cataracts.A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.L-dopa reverses behavioral deficits in the Pitx3 mouse fetusGenetics of anterior segment dysgenesis disorders.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Posterior polar cataract: A reviewConserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.Human pituitary homeobox-3 gene in congenital cataract in a Chinese family.A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.The Xenopus homeobox gene pitx3 impinges upon somitogenesis and laterality.A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.Managing the posterior polar cataract: An update.Loss of αB-crystallin function in zebrafish reveals critical roles in the development of the lens and stress resistance of the heart.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.
P2860
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P2860
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
name
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@ast
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@en
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@nl
type
label
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@ast
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@en
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@nl
prefLabel
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@ast
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@en
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@nl
P2093
P356
P1476
Heterozygous and homozygous mu ...... urodevelopmental abnormalities
@en
P2093
Andre Megarbane
Antoine Khoury
Bassem A Bejjani
Carla Bidinost
Daniel Chung
David W Stockton
Elias I Traboulsi
Kang Zhang
Masayuki Matsumoto
Nabiha Salem
P304
P356
10.1167/IOVS.05-1095
P407
P577
2006-04-01T00:00:00Z