Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Structural and functional consequences of the cardiomyopathy-associated p.R157C mutation in the C-terminal palindromic motif of human αB-crystallin.
Rezaei Somee L et al.
Febs Letters, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Zebrafish as a model for crystallin-associated congenital cataracts in humans.
Rossen JL et al.
Frontiers in Cell and Developmental Biology, 2025
Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Thorkelsson A et al.
International Journal of Molecular Sciences, 2024
Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Claeyssen C et al.
Biochimie, 2024
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E et al.
International Journal of Molecular Sciences, 2023
Investigating the role of double mutations R12C/P20R, and R12C/R69C on structure, chaperone-like activity, and amyloidogenic properties of human αB-crystallin.
Khaleghinejad SH et al.
International Journal of Biological Macromolecules, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Myopathy-associated G154S mutation causes important changes in the conformational stability, amyloidogenic properties, and chaperone-like activity of human αB-crystallin.
Khoshaman K et al.
Biophysical Chemistry, 2022
Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.
Budnar P et al.
Biochemistry. Biokhimiia, 2022
Alpha B-Crystallin in Muscle Disease Prevention: The Role of Physical Activity.
Dimauro I et al.
Molecules (basel, Switzerland), 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.
Scalia F et al.
Frontiers in Molecular Biosciences, 2022
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Multi-system neurological disorder associated with a CRYAB variant.
Sadeh M et al.
Neurogenetics, 2021
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.
Yu Y et al.
Ophthalmic Genetics, 2021
Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases.
Hafizi M et al.
Plos One, 2021
Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.
Vähätalo JH et al.
Frontiers in Cardiovascular Medicine, 2021
Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy.
Bortolani S et al.
Journal of the Neurological Sciences, 2020
αB-crystallin as a promising target in pathological conditions - A review.
Maksimiuk M et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2020
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Isackson PJ et al.
Pharmacogenomics, 2018
αB-Crystallin Phosphorylation: Advances and Problems.
Muranova LK et al.
Biochemistry. Biokhimiia, 2018
The role of αB-crystallin in skeletal and cardiac muscle tissues.
Dimauro I et al.
Cell Stress & Chaperones, 2018
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.
Junttila MJ et al.
Circulation, 2018
Some properties of three αB-crystallin mutants carrying point substitutions in the C-terminal domain and associated with congenital diseases.
Gerasimovich ES et al.
Biochimie, 2017
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna JP et al.
Bba Clinical, 2017
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Nouhravesh N et al.
Molecular Genetics & Genomic Medicine, 2016
αB-Crystallin Interacts with Nav1.5 and Regulates Ubiquitination and Internalization of Cell Surface Nav1.5.
Huang Y et al.
The Journal of Biological Chemistry, 2016
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.
Thornell E et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A et al.
Revue Neurologique, 2015
Rescue of αB Crystallin (HSPB5) Mutants Associated Protein Aggregation by Co-Expression of HSPB5 Partners.
Hussein RM et al.
Plos One, 2015
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X et al.
Plos One, 2015
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1.
Raju I et al.
Biochemical and Biophysical Research Communications, 2013
Genetic spectrum of cardiomyopathies with neuromuscular phenotype.
Kostareva A et al.
Frontiers in Bioscience (scholar Edition), 2013
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 2012
The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.
Boncoraglio A et al.
The International Journal of Biochemistry & Cell Biology, 2012