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    Browsing by Author "C, George Priya Doss"

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        Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. 

        S, Udhaya Kumar; Sankar, Srivarshini; Younes, Salma; D, Thirumal Kumar; Ahmad, Muneera Naseer; Okashah, Sarah Samer; Kamaraj, Balu; Al-Subaie, Abeer Mohammed; C, George Priya Doss; Zayed, Hatem... more authors ... less authors ( MDPI , 2020 , Article)
        Filamins (FLN) are a family of actin-binding proteins involved in regulating the cytoskeleton and signaling phenomenon by developing a network with F-actin and FLN-binding partners. The FLN family comprises three conserved ...
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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 ...
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        Enhanced production of anthraquinones by gamma-irradiated cell cultures of Rubia cordifolia in a bioreactor 

        A, Mariadoss; Satdive, Ramesh; Fulzele, Devanand P.; Ramamoorthy, Siva; C, George Priya Doss; Zayed, Hatem; Younes, Salma; C, Rajasekaran... more authors ... less authors ( Elsevier , 2019 , Article)
        The aim of this study was to obtain high-yielding cell cultures of Rubia cordifolia by applying gamma irradiation and subsequently scaling up for anthraquinone production in a bioreactor. Calli cultured on MS medium was ...
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        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 ...
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        Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I 

        Mosaeilhy, Ahmed; Mohamed, Magdy M; C, George Priya Doss; El Abd, Heba S A; Gamal, Radwa; Zaki, Osama K; Zayed, Hatem... more authors ... less authors ( Springer US , 2017 , Article)
        Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, ...
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        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 ...
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        Involvement of Essential Signaling Cascades and Analysis of Gene Networks in Diabesity 

        S, Udhaya Kumar; Rajan, Bithia; D, Thirumal Kumar; V, Anu Preethi; Abunada, Taghreed; Younes, Salma; Okashah, Sarah; Ethiraj, Selvarajan; C, George Priya Doss; Zayed, Hatem... more authors ... less authors ( MDPI , 2020 , Article)
        (1) Aims: Diabesity, defined as diabetes occurring in the context of obesity, is a serious health problem that is associated with an increased risk of premature heart attack, stroke, and death. To date, a key challenge has ...
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        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 ...
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        Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study. 

        Agrahari, Ashish Kumar; Kumar, Amit; R, Siva; Zayed, Hatem; C, George Priya Doss ( Elsevier , 2018 , Article)
        X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known as connexin 32 (Cx32) that leads to Schwann cell ...

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