Associated Papers
Unveiling the structural and functional consequences of the p.D109G pathogenic mutation in human αB-Crystallin responsible for restrictive cardiomyopathy and skeletal myopathy.
Hosseini Jafari M et al.
International Journal of Biological Macromolecules, 2024
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Wei XJ et al.
Frontiers in Neurology, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
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
35281256 (PubMed )
Supplement: DataSheet1.docx
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
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
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S7
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
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X et al.
Plos One, 2015
Fluorescence resonance energy transfer study of subunit exchange in human lens crystallins and congenital cataract crystallin mutants.
Liang JJ et al.
Protein Science : a Publication of the Protein Society, 2006
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