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PURPOSE To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin. METHODS Seven Indian families with congenital cataract were analyzed by detailed family history and clinical evaluation. Each family had two to five affected members. Mutation screening was carried out in the candidate gene,(More)
PURPOSE To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea. METHODS Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA3, and GJA8, was performed by bidirectional sequencing of(More)
PURPOSE To identify the genetic defect in an autosomal dominant congenital cataract family, having 15 members in three generations, affected with bilateral cataract that gave the appearance of "full moon" with Y-sutural opacities. METHODS A detailed family history and clinical data were recorded. A genome-wide scan by two point linkage analysis using(More)
We performed a genome-wide association study (GWAS) and a multistage meta-analysis of type 2 diabetes (T2D) in Punjabi Sikhs from India. Our discovery GWAS in 1,616 individuals (842 case subjects) was followed by in silico replication of the top 513 independent single nucleotide polymorphisms (SNPs) (P < 10⁻³) in Punjabi Sikhs (n = 2,819; 801 case(More)
PURPOSE 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 (CRYBA1), betaB2-crystallin (CRYBB2),(More)
Quantitative behavioural assessment of benzodiazepines (chlordiazepoxide, diazepam and lorazepam) and non-benzodiazepines (buspirone) anxiolytics were investigated in unrestrained rhesus monkeys (Macaca mulatta) living in social colonies. The different behaviour, categorised as social, solitary and abnormal were video recorded and analysed. Chlordiazepoxide(More)
PURPOSE The molecular characterization of 27 members of an Indian family, with 13 members in four generations, affected with Y-sutural congenital cataract. METHODS Detailed family history and clinical data were collected. A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with multipoint lod score(More)
Purpose: To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract. Methods: Detailed family history and clinical data were recorded. Linkage analysis using fluorescently labeled microsatellite markers for the already known candidate gene loci was performed in(More)
In this investigation, we have carried out an autosomal genome-wide linkage analysis to map genes associated with type 2 diabetes (T2D) and five quantitative traits of blood lipids including total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, very low-density lipoprotein (VLDL) cholesterol, and(More)
Vitamin D deficiency is implicated in multiple disease conditions and accumulating evidence supports that the variation in serum vitamin D (25(OH)D) levels, including deficiency, is under strong genetic control. However, the underlying genetic mechanism associated with vitamin 25(OH)D concentrations is poorly understood. We earlier reported a very high(More)