Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C et al.
Biomolecules, 2022
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J et al.
Brain : a Journal of Neurology, 2022
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.
Bazrafshan S et al.
Cells, 2021
Genetic arrhythmias complicating patients with dilated cardiomyopathy: How it happens.
Towbin JA
Heart Rhythm, 2020
Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.
Li J et al.
Oncotarget, 2017
Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy.
Asadi M et al.
Advanced Biomedical Research, 2017
Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.
Campbell MD et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2016
Drosophila in the Heart of Understanding Cardiac Diseases: Modeling Channelopathies and Cardiomyopathies in the Fruitfly.
Taghli-Lamallem O et al.
Journal of Cardiovascular Development and Disease, 2016
Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
Garcia J et al.
Frontiers in Cardiovascular Medicine, 2016
A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.
Chen J et al.
Plos One, 2015
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
Rutschow D et al.
European Journal of Human Genetics : Ejhg, 2014
Genetic variation at the delta-sarcoglycan (SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.
Hightower CM et al.
Journal of Neurochemistry, 2013
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 2013
Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico.
Ordoñez-Razo RM et al.
Genetic Testing and Molecular Biomarkers, 2010
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
Bauer R et al.
European Journal of Human Genetics : Ejhg, 2009
Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments.
Vitiello C et al.
Plos One, 2009
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants.
Allikian MJ et al.
Human Molecular Genetics, 2007
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes.
Heydemann A et al.
Human Molecular Genetics, 2007
Drosophila as a model for the identification of genes causing adult human heart disease.
Wolf MJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs.
Stabej P et al.
Cytogenetic and Genome Research, 2005
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Kärkkäinen S et al.
Journal of Molecular Medicine (berlin, Germany), 2003
Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.
Sylvius N et al.
American Journal of Medical Genetics. Part A, 2003
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
Tsubata S et al.
The Journal of Clinical Investigation, 2000