Browsing Biomedical Sciences by Author "P, Sneha"
Now showing items 1-4 of 4
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Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach
P., Sneha; D., Thirumal Kumar; C., George Priya Doss; R., Siva; Zayed, Hatem ( Plos One , 2017 , Article)Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated with poor insulin secretion. Over the past years, several studies have reported the association of missense mutations in the ... -
An integrative bioinformatics pipeline to demonstrate the alteration of the interaction between the ALDH2*2 allele with NAD and Disulfiram.
J, Christy Priyadharshini; D, Thirumal Kumar; P, Sneha; R, Siva; W, Charles Emmanuel Jebaraj; C, George Priya Doss; Zayed, Hatem... more authors ... less authors ( Wiley , 2019 , Article)Alcohol use disorder (AUD) is a multifactorial psychiatric behavior disorder. Disulfiram is the first approved drug by the Food and Drug Administration for alcohol-dependent patients, which targets the ALDH2 enzyme. Several ... -
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach
P., Sneha; D., Kumar Thirumal; Tanwar, Himani; R., Siva; C., George Priya Doss; Zayed, Hatem... more authors ... less authors ( Wiley Periodicals, Inc , 2017 , Article)Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants ... -
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P, Sneha; Ebrahimi, Elaheh Ahmad; Ghazala, Sara Ahmed; D, Thirumal Kumar; R, Siva; Priya Doss C, George; Zayed, Hatem... more authors ... less authors ( Wiley , 2018 , Article)Galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase (GALK) enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hyper ...