Browsing Biomedical Sciences by Author "C, George Priya Doss"
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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 extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia
S, Udhaya Kumar; D, Thirumal Kumar; R, Siva; C, George Priya Doss; Zayed, Hatem ( Elsevier , 2019 , Article)Type I galactosemia is a very rare autosomal recessive genetic metabolic disorder that occurs because of the mutations present in the galactose-1-phosphate uridyl transferase (GALT) gene, resulting in a deficiency of the ... -
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 ...