Associated Papers
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
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
Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M et al.
International Ophthalmology, 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
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
Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5).
Muranova LK et al.
Experimental Eye Research, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
αB-Crystallin Phosphorylation: Advances and Problems.
Muranova LK et al.
Biochemistry. Biokhimiia, 2018
New cataract markers: Mechanisms of disease.
Zhu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna JP et al.
Bba Clinical, 2017
Correlations of single nucleotide polymorphisms of CRYAA and CRYAB genes with the risk and clinicopathological features of children suffering from congenital cataract.
Cui XJ et al.
Medicine, 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
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.
Andley UP et al.
Biochimica Et Biophysica Acta, 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
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
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
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
A novel CRYAB mutation resulting in multisystemic disease.
Sacconi S et al.
Neuromuscular Disorders : Nmd, 2012
Epidemiology and molecular genetics of congenital cataracts.
Yi J et al.
International Journal of Ophthalmology, 2011
Characterization of a mutant R11H αB-crystallin associated with human inherited cataract.
Chen Q et al.
Biological Chemistry, 2010
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Chen Q et al.
Molecular Vision, 2009
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0