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Page 1 od 71 rezultati
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
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Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
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OBJECTIVE
To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts.
METHODS
A three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.
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OBJECTIVE
To identify the gene responsible for autosomal dominant lamellar pulverulent cataract in a four-generation British family and characterise the functional and cellular consequences of the mutation.
METHODS
Linkage analysis was used to identify the disease locus. The GJA8 gene was sequenced
Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells.
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Cataract is a common cause of childhood blindness worldwide. alpha-crystallin, which is comprised of two homologous subunits, alphaA- and alphaB-crystallin, plays a key role in the maintenance of lens transparency. Recently, we have identified a missense mutation in alphaB-crystallin that changes
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.
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OBJECTIVE
Congenital cataract is a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the mutation responsible for autosomal dominant congenital coralliform cataracts in two Chinese families and to investigate the relationship between virulence genes
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.
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BACKGROUND
Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract.
OBJECTIVE
To identify the pathogenic gene mutation in a Chinese family with autosomal dominant
Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.
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delta 1-pyrroline-5-carboxylate synthetase (P5CS) catalyzes the ATP and the NAD(P)H-dependent conversion of L-glutamate to glutamic gamma-semialdehyde (GSA) which is the metabolic precursor for proline biosynthesis. We cloned a human P5CS cDNA by database cloning strategy and sequenced 2,907 bp from
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
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Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.
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BACKGROUND
Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
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OBJECTIVE
Autosomal dominant cataracts are a clinically and genetically heterogeneous eye-lens disorder that usually present in childhood with symptoms of impaired vision. The purpose of this study was to map and identify the mutation underlying autosomal dominant nuclear punctate cataracts
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
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Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity. We identified a family where ocular developmental abnormalities (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a translocation,
[Gene mapping and analysis of candidate genes in a Chinese family with autosomal dominant congenital coralliform cataract].
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OBJECTIVE
To map and to identify the causal gene of autosomal dominant congenital coralliform cataract (ADCC) in a Chinese family.
METHODS
Case series study. Clinical features of all affected members in this family were examined. Blood samples were collected from nine family members for genetic
[Localization and screening of autosomal dominant coralliform cataract associated gene].
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OBJECTIVE
To identify the genetic defect for the autosomal dominant coralliform cataract affecting a four-generation Chinese family.
METHODS
Genomic DNA from the family members was typed for whole genomic linkage analysis. Two-point LOD scores were calculated using the LINKAGE program package
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
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OBJECTIVE
To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract.
METHODS
Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin
The critical role of the central hydrophobic core (residues 71-77) of amyloid-forming αA66-80 peptide in α-crystallin aggregation: a systematic proline replacement study.
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Age-related cataract formation is marked by the progressive aggregation of lens proteins. The formation of protein aggregates in the aging lens has been shown to correlate with the progressive accumulation of a range of post-translational crystallin modifications, including oxidation, deamidation,
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