[PDF] Top 20 Genetic mutations and mechanisms in dilated cardiomyopathy
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Genetic mutations and mechanisms in dilated cardiomyopathy
... Dominant mutations in the genes encoding these sarcomeric proteins cause ...gene mutations are nonsynonymous SNPs, small insertion/deletions that may be in-frame or, alternatively, protein-truncating ...of ... See full document
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Doxorubicin-Induced Dilated Cardiomyopathy: Phisiopathological Mechanisms and Therapeutic Alternatives
... of cardiomyopathy are diagnosed as left ventricular noncompaction, with only DCM and hypertrophic cardiomyopathy being more ...(AHA/ACC) cardiomyopathy classification, left ventricular non-compaction ... See full document
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Original Article Association of genetic polymorphisms on BTNL2 with susceptibility to and prognosis of dilated cardiomyopathy in a Chinese population
... Background: Dilated cardiomyopathy (DCM) is one type of primary myocardial disease, partly caused by immunity ...The genetic mutations within or around BTNL2 (rs3763313, rs9268494, rs9268492 ... See full document
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MYH7 Gene Mutations in Dilated Cardiomyopathy Patients: About 190 Cases at the Institute of Cardiology, Abidjan
... the mutations previously reported in the literature were unique: the T412N mutation on exon 13, the T1019N on exon 24 and the E1426K on exon ...those mutations in our study population, despite of the high ... See full document
6
Cardiomyopathy, familial dilated
... Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic ...by genetic mutations in FDC genes that encode for cytoskeletal and ... See full document
8
Study on Etiology and Clinical Profile of Dilated Cardiomyopathy
... Thus, dilated and restrictive cardiomyopathies are defined as mixed cardiomyopathies (predominantly nongenetic); however, hypertrophic cardiomyopathy (HCM), which is caused by mutations in ... See full document
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Original Article Genetic polymorphisms of DNA repair enzymes in dilated cardiomyopathy
... ing in the cell apoptosis and death [35]. Apoptotic myocytes have been observed in fail- ing human hearts with DCM [36]. As the key DNA polymerase in BER pathway, POLβ has been implicated in multiple cellular processes, ... See full document
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Genetics of inherited cardiocutaneous syndromes: a review
... Symptomatic cardiomyopathy, on the other hand, mani- fests by adolescence with 100% ...left-sided dilated cardiomyopathy character- istic of Carvajal syndrome with mutations in desmoplakin ( fi ... See full document
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Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β cardiac myosin
... molecular genetic approaches, we provided early strong functional evidence that the light-chain binding region of the S1 acts as a swinging lever arm during chemo-mechanical coupling ... See full document
7
Barth syndrome
... X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3- methylglutaconic acid ...spectrum: dilated ... See full document
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Genetics of human and canine dilated cardiomyopathy
... Human DCM-associated genes identified to date are involved in a range of functions but can usually be placed into one of six functional groups: sarcomeric protein genes, cytoskeletal protein genes, nuclear envelope ... See full document
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Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies
... DCM-related genetic variants have also been recently found in other genes encoding sarcomere proteins, namely α-cardiac actin, α-tropomyosin, cardiac troponin T, I, and C, β- and α-myosin heavy chains, myosin ... See full document
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The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype phenotype correlation
... DCM genetic testing from 2010 to 2013 to the Unit for Screening Studies in Inherited Cardiovascular Diseases and involved 90 unrelated probands with DCM (67 or ... See full document
8
Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy
... possible cardiomyopathy or myop- athy from cohort II were screened for mutations in 48 cardiomyopathy-associated genes ( ABCC9 , ACTC1 , ACTN2 , ANKRD1 , BAG3 , CALR3 , CRYAB , CSRP3 / MLP , DES , ... See full document
9
Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy
... Dilated cardiomyopathy has been increasingly of concern in both domestic and commercial ...in genetic testing and more recently gene therapy proof of concept advances are now making mutation ... See full document
16
Mutations in the human δ sarcoglycan gene in familial and sporadic dilated cardiomyopathy
... or genetic causes has been speculated upon for decades (46) but a unifying mech- anism has not been ...from mutations in families of pro- teins essential for specific ...hypertrophic cardiomyopathy ... See full document
9
Peripartum cardiomyopathy: a review
... Peripartum cardiomyopathy (PPCM) is a form of dilated cardiomyopathy of unclear etiology affecting women without preexisting heart disease during the last month of pregnancy or during the first 5 ... See full document
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<p>Barth syndrome: mechanisms and management</p>
... Genetic counseling will be offered to affected adults, adult female carriers, and those at risk of being a carrier. In pregnant females at risk of carrying a TAZ variant, prenatal diagnosis is possible. It is also ... See full document
12
Natural genetic variation of the cardiac transcriptome in non diseased donors and patients with dilated cardiomyopathy
... of genetic variation that affects the regulation of transcription and splicing, which is congruent with the recently published insight that transcription and RNA splicing are the pri- mary links between ... See full document
21
Mechanism of sudden cardiac death in patients with heart failure
... areas of unidirectional conduction block and slow conduction. In addition, cellular hypertrophy and changes in the density and distribution of gap junction channels impact strongly on cellular coupling contributing to ... See full document
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