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Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaβA3/A1-crystallin: more than a lens proteinLooking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattleThe Human W42R D-Crystallin Mutant Structure Provides a Link between Congenital and Age-related CataractsPediatric cataract: challenges and future directionsA novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese familyAnalysis of mitochondrial DNA variations in Indian patients with congenital cataractGermline transmission of an embryonic stem cell line derived from BALB/c cataract miceMolecular and structural analysis of genetic variations in congenital cataractA novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.Sensitive periods for the functional specialization of the neural system for human face processing.Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreeNovel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.Correlations of single nucleotide polymorphisms of CRYAA and CRYAB genes with the risk and clinicopathological features of children suffering from congenital cataract.Regulation of lens gap junctions by Transforming Growth Factor beta.A novel human CRYGD mutation in a juvenile autosomal dominant cataractMorgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens developmentA single destabilizing mutation (F9S) promotes concerted unfolding of an entire globular domain in gammaS-crystallin.Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationA novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Racemization of two proteins over our lifespan: deamidation of asparagine 76 in γS crystallin is greater in cataract than in normal lenses across the age range.Cat-Map: putting cataract on the mapHuman cataract mutations in EPHA2 SAM domain alter receptor stability and function.Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated regionA Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Mechanism of cataract formation in alphaA-crystallin Y118D mutation.Altered chaperone-like activity of alpha-crystallins promotes cataractogenesis.Physiological expression of lens α-, β-, and γ-crystallins in murine and human corneas.Congenital cataracts: de novo gene conversion event in CRYBB2.Cataract-associated mutant E107A of human gammaD-crystallin shows increased attraction to alpha-crystallin and enhanced light scattering.A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 10 October 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Congenital cataracts and their molecular genetics
@en
Congenital cataracts and their molecular genetics.
@nl
type
label
Congenital cataracts and their molecular genetics
@en
Congenital cataracts and their molecular genetics.
@nl
prefLabel
Congenital cataracts and their molecular genetics
@en
Congenital cataracts and their molecular genetics.
@nl
P2860
P1476
Congenital cataracts and their molecular genetics
@en
P2093
J Fielding Hejtmancik
P2860
P304
P356
10.1016/J.SEMCDB.2007.10.003
P577
2007-10-10T00:00:00Z