Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy.
Pandey P et al.
International Journal of Molecular Sciences, 2024
The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
Thekkedam CG et al.
International Journal of Molecular Sciences, 2023
Most monogenic disorders are caused by mutations altering protein folding free energy.
Pandey P et al.
Research Square, 2023
FKBP12 binds to the cardiac ryanodine receptor with negative cooperativity: implications for heart muscle physiology in health and disease.
Richardson SJ et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Transmembrane Chloride Intracellular Channel 1 (tmCLIC1) as a Potential Biomarker for Personalized Medicine.
Cianci F et al.
Journal of Personalized Medicine, 2021
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes.
Birolo G et al.
Frontiers in Molecular Biosciences, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Intracellular Chloride Channels: Novel Biomarkers in Diseases.
Gururaja Rao S et al.
Frontiers in Physiology, 2020
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Andersen EF et al.
American Journal of Medical Genetics. Part A, 2014
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Takano K et al.
Human Molecular Genetics, 2012
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
Witham S et al.
Proteins, 2011
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0