familial dilated cardiomyopathy

04/01/2009 - "The purpose of this study was to investigate cardiac phenotypes within a family harboring a familial dilated cardiomyopathy-related mutation in the gene encoding phospholamban. "
01/01/2022 - "Structures of PKA-phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy."
05/20/2019 - "Causative mutations for familial dilated cardiomyopathy (DCM) have been identified in the phospholamban gene. "
01/01/2022 - "Several mutations identified in phospholamban (PLN) have been linked to familial dilated cardiomyopathy (DCM) and heart failure, yet the underlying molecular mechanism remains controversial. "
03/24/2015 - "Here, we used solution NMR spectroscopy to study the conformational dynamics of two complexes of the catalytic subunit of the cAMP-dependent protein kinase A with WT and R14 deletion phospholamban, a lethal human mutant linked to familial dilated cardiomyopathy. "

01/01/2023 - "Importantly, mutations in genes encoding nuclear envelope (NE) and associated proteins are the second highest cause of familial dilated cardiomyopathy. "
11/23/2022 - "Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated cardiomyopathy (DCM). "
01/01/2020 - "Familial dilated cardiomyopathy (DCM) is mostly caused by mutations in genes encoding cytoskeletal and sarcomeric proteins. "
10/01/2016 - "Mutations in the RS-domain of RNA-binding motif protein 20 (RBM20) have recently been identified to segregate with aggressive forms of familial dilated cardiomyopathy (DCM). "
01/01/2014 - "For familial dilated cardiomyopathy in thin filament proteins it has been proposed that this uncoupling is causative of the phenotype. "

06/01/2012 - "In the present study, we describe a novel titin truncation mutation causing adult-onset familial dilated cardiomyopathy in an Israeli Arab family. "
11/08/2023 - "Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy."
10/19/2023 - "The human OLA1 gene maps on chromosome 2, at the locus 1q31, close to the Titin (TTN) gene, which is associated with familial dilated cardiomyopathy (DCM). "
01/01/2023 - "Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy."
03/30/2021 - "A Novel Titin Truncation Variant Linked to Familial Dilated Cardiomyopathy Found in a Japanese Family and Its Functional Analysis in Genome-Edited Model Cells."

11/01/2018 - "To study the familial gene‑phenotype association, the exon and splice sites of 325 hereditary disease‑associated genes in the proband with familial dilated cardiomyopathy (FDC), including 61 cardiac disease‑associated genes, such as the lamins A/C (LMNA), were analyzed by ultra‑high multiplex polymerase chain reaction and the Ion AmpliSeq™ Inherited Disease Panel. "
10/11/2019 - "Pathogenic variations in the lamin gene (LMNA) cause familial dilated cardiomyopathy (DCM). "
01/01/2017 - "Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5-8% of familial dilated cardiomyopathy (DCM). "
03/01/2004 - "Mutations in LMNA, the gene coding for A-type lamins, result in several human hereditary diseases, the laminopathies, which include Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy and Hutchinson-Gilford progeria. "
09/01/2001 - "The LMNA gene, one of 6 autosomal disease genes implicated in familial dilated cardiomyopathy, encodes lamins A and C, alternatively spliced nuclear envelope proteins. "

10/26/2015 - "Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin."
01/01/2019 - "Backgrounds: Recent studies identified heterozygous variants in MYLK3 gene that encodes cardiac myosin light chain kinase (cMLCK) are related to familial dilated cardiomyopathy (DCM) for the first time. "

12/01/2010 - "Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity?"
04/01/2016 - "According to previous clinical trials, the major high-risk factors for anthracycline-induced cardiotoxicity are age, body weight, female gender, radiotherapy, and other diseases such as Down syndrome, familial dilated cardiomyopathy, diabetes and hypertension. "

07/20/2007 - "We created knock-in mice in which a deletion of 3 base pairs coding for K210 in cardiac troponin (cTn)T found in familial dilated cardiomyopathy patients was introduced into endogenous genes. "
11/01/2002 - "This article reviews following aspects of troponin researches: 1) early studies on the structure and function of troponin, 2) molecular mechanisms of Ca(2+)-regulation, 3) principles of troponin-exchange in skinned fibers and properties of troponin isoforms thereafter clarified under physiological conditions, 4) recent studies on the functional consequences of the mutations in human cardiac troponins T and I that cause genetic disorders, familial hypertrophic cardiomyopathy (HCM), and familial dilated cardiomyopathy (DCM)."

11/01/2002 - "This article reviews following aspects of troponin researches: 1) early studies on the structure and function of troponin, 2) molecular mechanisms of Ca(2+)-regulation, 3) principles of troponin-exchange in skinned fibers and properties of troponin isoforms thereafter clarified under physiological conditions, 4) recent studies on the functional consequences of the mutations in human cardiac troponins T and I that cause genetic disorders, familial hypertrophic cardiomyopathy (HCM), and familial dilated cardiomyopathy (DCM)."

03/24/2015 - "Here, we used solution NMR spectroscopy to study the conformational dynamics of two complexes of the catalytic subunit of the cAMP-dependent protein kinase A with WT and R14 deletion phospholamban, a lethal human mutant linked to familial dilated cardiomyopathy. "

03/24/2015 - "Here, we used solution NMR spectroscopy to study the conformational dynamics of two complexes of the catalytic subunit of the cAMP-dependent protein kinase A with WT and R14 deletion phospholamban, a lethal human mutant linked to familial dilated cardiomyopathy. "

04/01/2016 - "According to previous clinical trials, the major high-risk factors for anthracycline-induced cardiotoxicity are age, body weight, female gender, radiotherapy, and other diseases such as Down syndrome, familial dilated cardiomyopathy, diabetes and hypertension. "

01/26/2019 - "Contemporary characteristics and outcomes of adults with familial dilated cardiomyopathy listed for heart transplantation."
01/01/2016 - "Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation."
12/01/2012 - "A 40 year-old woman with familial dilated cardiomyopathy weighing 105 kg (BMI 40 kg/m(2)) lost 14 kg with sufficient symptomatic resolution to no longer require cardiac transplantation. "
08/01/2015 - "The patient's history was notable for placement of a left ventricular assist device followed by orthotopic heart transplantation 2 years prior to treat end-stage familial dilated cardiomyopathy. "
01/01/2023 - "Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. "

10/01/2015 - "Apart from transplant, there are no satisfactory therapies for the severe depression in contractility in familial dilated cardiomyopathy (DCM). "
04/01/2010 - "Recent reports indicate the crucial role of sumoylation in human diseases including familial dilated cardiomyopathy, suggesting that targeting of sumoylation would be of considerable interest for novel therapies. "
03/01/2009 - "Survival of patients with familial dilated cardiomyopathy on optimal heart failure therapy."

12/12/2006 - "By proportional hazards regression analysis, risk factors for death or transplantation comprised age >5 years at presentation (hazard ratio 5.6, 95% CI, 2.6 to 12.0), familial dilated cardiomyopathy (hazard ratio, 2.9; 95% CI, 1.5 to 5.6), lower initial fractional shortening z score (hazard ratio per z-score unit, 0.75; 95% CI, 0.65 to 0.87), and failure to increase fractional shortening z score during follow-up (hazard ratio per unit increase, 0.68; 95% CI, 0.58 to 0.79). "
01/01/2018 - "Lamin A/C gene (LMNA)-related familial dilated cardiomyopathy (fDCM) is an aggressive heart disease that often leads to transplantation and sudden death. "

02/01/2022 - "This case represents possibly the youngest pregnant familial dilated cardiomyopathy patient to deliver and the youngest patient to be fitted for a wearable cardiac defibrillator in the postpartum period. "