Associated Papers
AAV-TNNI3 rescues an experimental murine Tnni3 mutation resulting in thin filament mediated DCM.
Bushway PJ et al.
Journal of Molecular and Cellular Cardiology, 2026
Therapeutic base editing alleviates restrictive cardiomyopathy.
Chang C et al.
Cell Reports. Medicine, 2026
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in Patients.
Staudt DW et al.
Biorxiv : the Preprint Server for Biology, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort.
Santos ES et al.
Genes, 2025
Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.
Chen C et al.
Pediatrics and Neonatology, 2025
Velcro-binding by cardiac troponin-I traps tropomyosin on actin in a low-energy relaxed state.
Ramachandran B et al.
Biochemical and Biophysical Research Communications, 2025
Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up.
Nawaz A et al.
Frontiers in Cardiovascular Medicine, 2025
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
Focus on cardiac troponin complex: From gene expression to cardiomyopathy.
Ragusa R et al.
Genes & Diseases, 2024
Noteworthy phenomena in pediatric inherited cardiomyopathy.
Jiang JH et al.
World Journal of Pediatrics : Wjp, 2024
The cardiomyocyte origins of diastolic dysfunction: cellular components of myocardial "stiffness".
Janssens JV et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2024
The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.
Yuan W et al.
European Journal of Pediatrics, 2024
Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant.
Jin Y et al.
Frontiers in Cardiovascular Medicine, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
[Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review].
Wang F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.
Ishida H et al.
Circulation. Genomic and Precision Medicine, 2023
Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.
Koshy L et al.
The Indian Journal of Medical Research, 2023
Genetic Basis of Childhood Cardiomyopathy.
Bagnall RD et al.
Circulation. Genomic and Precision Medicine, 2022
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.
Zheng M et al.
Bmc Cardiovascular Disorders, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis.
Li Z et al.
International Journal of Biological Sciences, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.
Keyt LK et al.
Frontiers in Cardiovascular Medicine, 2022
Atomic force microscopy identifies the alteration of rheological properties of the cardiac fibroblasts in idiopathic restrictive cardiomyopathy.
Matsumoto M et al.
Plos One, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives.
Finsterer J et al.
Current Cardiology Reports, 2020
Investigation of de novo variation in pediatric cardiomyopathy.
Parrott A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.
Cimiotti D et al.
Plos One, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction.
Quan J et al.
Journal of Biomedical Science, 2019
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).
Pantou MP et al.
Bmc Medical Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
Hayashi T et al.
Journal of Human Genetics, 2018
The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction.
Fujino M et al.
Journal of Cardiology Cases, 2018
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy.
Ding WH et al.
Chinese Medical Journal, 2017