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Accurate transmission of information coded in the sperm genome is vital to the pre- and post-natal development of the offspring. Recent advances in reproductive biology have proposed evaluation of sperm DNA integrity as an important assessment tool to infer the presence of DNA strand breaks, numerical abnormalities in sperm chromosome complement, and(More)
PURPOSE To screen the visual system homeobox 1 (VSX1) gene in keratoconus patients. METHODS The enntire coding region of VSX1, including intron-exon boundaries were amplified in keratoconus cases (n=50) and controls (n=50). All sequences were analyzed against the ensemble sequence (ENSG00000100987) for VXS1. RESULTS Sequencing analysis showed four(More)
PURPOSE To screen mitochondrial DNA (mtDNA) for nucleotide variations in primary congenital glaucoma (PCG). METHODS The entire coding region of the mitochondrial genome was amplified by polymerase chain reaction from 35 PCG patients and 40 controls. The full mtDNA genome except the D-loop was sequenced. All sequences were analyzed against mitochondrial(More)
Physiological function of reactive oxygen species (ROS) has been known since a long, but recently toxic effects of ROS on spermatozoa have gained much importance in male infertility. Mitochondrial DNA (mtDNA) is believed to be both source and target of ROS. mtDNA unlike nuclear DNA is not compactly packed and hence more susceptible to oxidative stress (OS)(More)
PURPOSE Primary congenital glaucoma (PCG) is the second most common cause of blindness, accounting for 0.01%-0.04% of total blindness worldwide. Most congenital glaucoma cases are mapped to the GLC3A locus, and many aspects of PCG are still unknown. Recent studies have reported an increased frequency of mitochondrial DNA (mtDNA) sequence changes in primary(More)
ETHNOPHARMACOLOGICAL RELEVANCE The bark of Tectona grandis Linn. is traditionally used in the treatment of diabetes. AIM The present study was undertaken to investigate the effect of ethanolic extract of bark of Tectona grandis Linn. (TG) in dexamethasone-induced insulin resistance in mice. MATERIALS AND METHODS Mice were treated with prestandardised(More)
PURPOSE To screen mitochondrial DNA (mtDNA) variations in Leber hereditary optic neuropathy (LHON). METHODS Ten LHON patients were selected from neuro-ophthalmology clinics of All India Institute of Medical Sciences (AIIMS), New Delhi, India. Clinical evaluation included slit-lamp biomicroscopy, fundus examination, and neuroimaging. DNA was isolated from(More)
PURPOSE Mutations in Cytochrome P450 (CYP1B1) are a predominant cause of congenital glaucoma. This study was planned with the aim to identify the mutation profile of CYP1B1 in North Indian primary congenital glaucoma (PCG) patients. METHODS After ethical clearance, 50 congenital glaucoma patients and 50 ethnically matched controls were recruited in this(More)
Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence(More)
PURPOSE Primary congenital glaucoma (PCG) is an autosomal recessive eye disorder that is postulated to result from developmental defects in the anterior eye segment. Mutations in the cytochrome P4501B1 (CYP1B1) gene are a predominant cause of congenital glaucoma. In this study we identify CYP1B1 mutations in PCG patients. METHODS Twenty-three unrelated(More)