Computational insights into NIMA-related kinase 6: Unraveling mutational effects on structure and function
NK Panchal, S Mohanty, SE Prince - Molecular and Cellular Biochemistry, 2024 - Springer
The NEK6 (NIMA-related kinase 6) serine/threonine kinase is a pivotal player in a multitude
of cellular processes, including the regulation of the cell cycle and the response to DNA …
of cellular processes, including the regulation of the cell cycle and the response to DNA …
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact
Nowadays CHK2 mutation is studied frequently in hereditary breast and ovarian cancer
patients in addition to BRCA1/BRCA2. CHK2 is a tumor suppressor gene that encodes a …
patients in addition to BRCA1/BRCA2. CHK2 is a tumor suppressor gene that encodes a …
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: a case report and brief literature …
G Yao, G Wang, D Wang, G Su - Medicine, 2019 - journals.lww.com
Interventions: Next-generation sequencing (NGS) of DNA samples was performed to detect
the mutation in the chondrodysplasia-related genes on the proband and her parents, which …
the mutation in the chondrodysplasia-related genes on the proband and her parents, which …
Computational analysis for the determination of deleterious nsSNPs in human MTHFR gene
M Desai, JB Chauhan - Computational biology and chemistry, 2018 - Elsevier
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme involved in folate
metabolism and plays a central role in DNA methylation and biosynthesis. MTHFR mutations …
metabolism and plays a central role in DNA methylation and biosynthesis. MTHFR mutations …
Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools
M Desai, JB Chauhan - Systems Biology in Reproductive Medicine, 2019 - Taylor & Francis
Methionine synthase encoded by the MTR gene is one of the key enzymes involved in the
SAM (S-Adenosyl Methionine) cycle catalyzing the conversion of homocysteine to …
SAM (S-Adenosyl Methionine) cycle catalyzing the conversion of homocysteine to …
Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study
Background: The folate metabolism pathway plays an integral part in DNA synthesis,
methylation, and repair. Methylenetetrahydrofolate reductase (MTHFR) and …
methylation, and repair. Methylenetetrahydrofolate reductase (MTHFR) and …
Comprehensive characterization of the coding and non-coding single nucleotide polymorphisms in the tumor protein p63 (TP63) gene using in silico tools
Single nucleotide polymorphisms (SNPs) help to understand the phenotypic variations in
humans. Genome-wide association studies (GWAS) have identified SNPs located in the …
humans. Genome-wide association studies (GWAS) have identified SNPs located in the …
In Silico analysis of hepatitis B virus occult associated mutations in Botswana using a novel algorithm
Occult hepatitis B infections (OBI) represent a reservoir of undiagnosed and untreated
hepatitis B virus (HBV), hence the need to identify mutations that lead to this phenotype …
hepatitis B virus (HBV), hence the need to identify mutations that lead to this phenotype …
Impact of a non‐synonymous Q281R polymorphism on structure of human Lipoprotein‐Associated Phospholipase A2 (Lp‐PLA2)
AB Gurung, A Bhattacharjee - Journal of Cellular Biochemistry, 2018 - Wiley Online Library
Non‐synonymous single nucleotide polymorphisms (nsSNPs) are genetic variations at
single base resulting in an amino acid change which have been associated with various …
single base resulting in an amino acid change which have been associated with various …
Pathogenic predictions of non-synonymous variants and their impacts: A computational assessment of ARHGEF6 gene
YM Khimsuriya, JB Chauhan - Egyptian Journal of Medical Human Genetics, 2018 - ajol.info
Introduction: ARHGEF6, a key member and activator of RhoGTPases family that is involved
in G-Protein Coupled receptor (GPCR) pathway and stimulate Rho dependent signals in the …
in G-Protein Coupled receptor (GPCR) pathway and stimulate Rho dependent signals in the …