Associated Papers
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M et al.
Brain : a Journal of Neurology, 2022
A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.
Dong XQ et al.
Journal of Geriatric Cardiology : Jgc, 2022
Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.
Wu G et al.
Circulation. Genomic and Precision Medicine, 2021
When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.
Fukuzawa A et al.
Human Molecular Genetics, 2021
Obscurin variants and inherited cardiomyopathies.
Marston S
Biophysical Reviews, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Rossi D et al.
Plos One, 2017
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
Ploski R et al.
American Journal of Medical Genetics. Part A, 2016
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.
Xu J et al.
Scientific Reports, 2015
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
Marston S et al.
Plos One, 2015
Contribution of the OBSCN nonsynonymous variants to aspirin exacerbated respiratory disease susceptibility in Korean population.
Kim JH et al.
Dna and Cell Biology, 2012
Structural analysis of obscurin gene in hypertrophic cardiomyopathy.
Arimura T et al.
Biochemical and Biophysical Research Communications, 2007
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