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Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE
TLDR
New mutations detected in this study extend the allelic heterogeneity of the genes and provide several additional variants for structure-function correlation studies and have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent. Expand
Network-based metabolic characterization of renal cell carcinoma
TLDR
A comprehensive metabolic network analysis of major renal cell carcinoma (RCC) subtypes including clear cell, papillary and chromophobe by integrating transcriptomic data with the human genome-scale metabolic model to understand the coordination of metabolic pathways in cancer cells is performed. Expand
A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2–q12.3
TLDR
A three-generation family with 14 of its members manifesting ADNSHL is analyzed, using a genome-wide linkage mapping approach, and a novel locus DFNA59 is found in the chromosome location 11p14.2–q12.3. Expand
Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India
TLDR
This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai, which suggested a common genetic basis for the disorder. Expand
Modeling the Control of Meiotic Cell Divisions: Entry, Progression, and Exit.
TLDR
A comprehensive mathematical model of the network that describes the temporal dynamics of meiotic progression is developed and the control strategy involving multiple feedback loops to yield two successive division cycles is demonstrated. Expand
The Locus PgaABCD of Acinetobacter junii Putatively Responsible for Poly-β-(1,6)- N-Acetylglucosamine Biosynthesis Might Be Related to Biofilm Formation: A Computational Analysis
TLDR
In this study, the possibility of PNAG biosynthesis in A. junii SH205 with its own PgaC was explored with the aid of bioinformatics and five conserved amino acids were shown, critical for the activity of enzyme. Expand
Mobility in the structure of E.coli recQ helicase upon substrate binding as seen from molecular dynamics simulations
TLDR
The domain interfaces are the DNA binding sites which display significant conformational changes in the authors' molecular dynamics simulation studies, and the preferred conformational states of the DNA bound and unbound forms of RecQ appear to be quite different from each other. Expand
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma
TLDR
Genome‐wide analysis of the family showed that the locus maps to chromosome region 13ptel‐q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype, suggesting improper cellular localization and abolishment of gap‐junction activity. Expand
Prediction of the next mutation in Hemagglutinin protein of Influenza-A virus using the variation pattern analysis.
TLDR
The next-in-line variation in the subtype of the Hemagglutinin protein of the influenza A virus has been predicted using the calculated score matrix and may be proven to be useful to design a drug before the outburst of the disease. Expand
Identification of Missense Mutation Pro77Arg As A Founder Mutation in Morquio-A Syndrome in Indian Gujarati Patel Ethnicity
Background: Morquio A syndrome (MPS IVA) is a mucopolysaccharide group storage disorder caused due to the deficient activity of the lysosomal enzyme N-acetylgalactoseamine-6-sulfatase encoded byExpand
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