ArticleThe Journal of clinical investigation2000
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
Article in The Journal of clinical investigation, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers.
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Who cites it
95 citing papers in PubMed, 343 citations in OpenAlex.
- From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.BMC medical genomics · 2026Article
- Antitachycardia Pacing for Fast Scar-Mediated Ventricular Tachycardia Across Non-Ischemic Cardiomyopathies: A Case Series.International medical case reports journal · 2026Article
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- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.International journal of molecular sciences · 2024Review
- Article
- An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy.Muscles (Basel, Switzerland) · 2023Review
- A Comprehensive Review of Dilated Cardiomyopathy in Pre-clinical Animal Models in Addition to Herbal Treatment Options and Multi-modality Imaging Strategies.Cardiovascular & hematological disorders drug targets · 2023Review
- Enhanced nuclear localization of phosphorylated MLKL predicts adverse events in patients with dilated cardiomyopathy.ESC heart failure · 2022Article
- The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction.Communications biology · 2022Review
- A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches.Journal of cardiovascular development and disease · 2022Review
- Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.Brain : a journal of neurology · 2022Article
- Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022Review
- Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach.Cancers · 2021Article
- Article
- A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.The journal of cardiovascular aging · 2021Article
- Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic CaAmerican journal of physiology. Heart and circulatory physiology · 2020Article
- Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.International journal of molecular sciences · 2020Article
- Glutathione-Allylsulfur Conjugates as Mesenchymal Stem Cells Stimulating Agents for Potential Applications in Tissue Repair.International journal of molecular sciences · 2020Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), whereas three other genes (actin, lamin A/C, and desmin) cause autosomal dominant DCM; seven other loci for autosomal dominant DCM have been mapped but the genes have not been identified. Hypothesizing that DCM is a disease of the cytoskeleton and sarcolemma, we have focused on candidate genes whose products are found in these structures. Here we report the screening of the human delta-sarcoglycan gene, a member of the dystrophin-associated protein complex, by single-stranded DNA conformation polymorphism analysis and by DNA sequencing in patients with DCM. Mutations affecting the secondary structure were identified in one family and two sporadic cases, whereas immunofluorescence analysis of myocardium from one of these patients demonstrated significant reduction in delta-sarcoglycan staining. No skeletal muscle disease occurred in any of these patients. These data suggest that delta-sarcoglycan is a disease-causing gene responsible for familial and idiopathic DCM and lend support to our "final common pathway" hypothesis that DCM is a cytoskeletalopathy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.