Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
A computational study of the R120G mutation in human αB-crystallin: implications for structural stability and functionality.
Darvazi M et al.
Journal of Biomolecular Structure & Dynamics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.
Voinescu OR et al.
International Journal of Molecular Sciences, 2024
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population.
Jarwar P et al.
Saudi Journal of Biological Sciences, 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
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
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
αB-crystallin as a promising target in pathological conditions - A review.
Maksimiuk M et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5).
Muranova LK et al.
Experimental Eye Research, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
New insights into the pathogenicity of non-synonymous variants through multi-level analysis.
Sun H et al.
Scientific Reports, 2019
αB-Crystallin Phosphorylation: Advances and Problems.
Muranova LK et al.
Biochemistry. Biokhimiia, 2018
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna JP et al.
Bba Clinical, 2017
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
The P20R mutation of αB-crystallin diminishes its anti-apoptotic activity in human lens epithelial cells.
Zhu P et al.
Biochemical and Biophysical Research Communications, 2017
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
Differential role of arginine mutations on the structure and functions of α-crystallin.
Panda AK et al.
Biochimica Et Biophysica Acta, 2016
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
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
Xia XY et al.
Bmc Ophthalmology, 2014
Ocular genetic disease in the Middle East.
Khan AO
Current Opinion in Ophthalmology, 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
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 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
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.
Carra S et al.
Progress in Neurobiology, 2012
A novel CRYAB mutation resulting in multisystemic disease.
Sacconi S et al.
Neuromuscular Disorders : Nmd, 2012
Hereditary pediatric cataract on the Arabian Peninsula.
Khan AO
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 2012
Characterization of a mutant R11H αB-crystallin associated with human inherited cataract.
Chen Q et al.
Biological Chemistry, 2010
Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).
Khan AO et al.
Ophthalmic Genetics, 2010
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
Safieh LA et al.
Molecular Vision, 2009