Associated Papers
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 2025
41469725 (PubMed )
Supplement: 40246_2025_901_MOESM2_ESM.xlsx › A._Missense
The p.P51L mutation in human HspB5: Structural and functional changes linked to cardiomyopathy and cataract pathogenesis.
Somee LR et al.
International Journal of Biological Macromolecules, 2025
Insights into the dual nature of αB-crystallin chaperone activity from the p.P39L mutant at the N-terminal region.
Barati A et al.
Scientific Reports, 2024
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Mutations in HspB1 and hereditary neuropathies.
Muranova LK et al.
Cell Stress & Chaperones, 2020
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.
Muranova LK et al.
Plos One, 2015
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