[PDF] Top 20 Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β cardiac myosin
Has 10000 "Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β cardiac myosin" found on our website. Below are the top 20 most common "Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β cardiac myosin".
Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β cardiac myosin
... removing myosin heads from the functioning pool of heads in the sarcomere has been suggested previously, with evidence for binding of MyBP-C to S2 and the RLC (for reviews, see Kampourakis et ...of myosin ... See full document
7
Cardiac Myosin Binding Protein C: At the Heart of Hypertrophic Cardiomyopathy in Humans and Domestic Cats
... mutations in the MYBPC3 gene can lead to the HCM phenotype. In a 1998 study of a mouse model of HCM, researchers created transgenic mice expressing a murine isoform of cMyBP-C that lacked both the titin and ... See full document
7
Functional analysis of the mutations in the human cardiac beta myosin that are responsible for familial hypertrophic cardiomyopathy Implication for the clinical outcome
... the power production of the mutant myosin is reduced since the ATP consumption rate of actomyosin is considerably decreased by the ...in myosin motor activity by the ...whose effects on ... See full document
9
Mutations in the human δ sarcoglycan gene in familial and sporadic dilated cardiomyopathy
... from mutations in families of pro- teins essential for specific ...for hypertrophic cardiomyopathy (HCM), a pri- mary heart muscle disease in which ventricular wall thickening (hypertrophy) and ... See full document
9
<p>Barth syndrome: mechanisms and management</p>
... Limitations preventing further achievements are the lack of animal models that entirely mimic human disease and the lack of complete understanding of the mechanisms that lead to impaired functioning of ... See full document
12
Barth syndrome
... by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3- methylglutaconic acid ...spectrum: dilated cardiomyopathy (DCM), hypertrophic ... See full document
17
Dilated cardiomyopathy and impaired cardiac hypertrophic response to angiotensin II in mice lacking FGF 2
... the cardiac response to hypertrophic ...ic effects on cardiac ...II–induced cardiac hypertrophy has not been ...of dilated cardiomyopathy in normotensive mice lacking ... See full document
10
Original Article Leucine-rich repeat neuronal protein 4 (LRRN4) potentially functions in dilated cardiomyopathy
... Dilated cardiomyopathy (DCM) is defined as left ventricular or biventricular dilation with systolic dysfunction in the absence of ischemia heart disease or abnormal loading conditions propor- tionate to the ... See full document
9
Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies
... by mutations in genes encoding ion channels or calcium-handling proteins that primarily affect the electrical activity of the ...to mutations in the gene encoding the calsequestrin protein (CASQ2 ... See full document
18
Genetic mutations and mechanisms in dilated cardiomyopathy
... Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of conges- tive heart ...In hypertrophic cardiomyopathy (HCM), cardiac output is ... See full document
9
Familial hypertrophic cardiomyopathy Microsatellite haplotyping and identification of a hot spot for mutations in the beta myosin heavy chain gene
... sequencing, 403Arg-->Leu and 403Arg-->Trp in families 720 and 730, respectively. The 403Arg-->Leu mutation was associated with incomplete penetrance, a high incidence of sudden deaths and severe cardiac ... See full document
8
Dilated cardiomyopathy in homozygous myosin binding protein C mutant mice
... the cardiac dys- function evident in mutant ...develop dilated cardiomyopathy, we suggest that M-band loss within the LV is a consequence rather than cause of sarcomere ... See full document
11
Echocardiographic diagnosis of the different phenotypes of hypertrophic cardiomyopathy
... Elliot P [28]. found that the excellent survival in the 40 % of patients with a wall thickness of 30 mm or more and no other clinical risk factors shows that a wall thick- ness of this magnitude cannot by itself be used ... See full document
12
Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy
... with 50% H 3 -leucine 24 hours after replating cells from purified cultures at day 15. Because myofibrils disas- semble and reassemble following replating (31), we collected serial time point samples for mass ... See full document
20
Genetics of inherited cardiocutaneous syndromes: a review
... Most cardiac cells originate from the meso- derm, while the skin tissue is derived from both the mesoderm (dermis) and the ecto- derm ...both cardiac and cutaneous phenotypes suggesting a potential common ... See full document
13
Profile and outcome of dialated cardiomyopathy in children - A short term followup
... An implantable cardioverter defibrillator (ICD) is indicated in patients who survive sudden cardiac death and in those patients at risk of death due to severe arrhythmias. Heart resynchronization therapy ... See full document
45
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy
... Cardiac-TnT-Myc-truncation mice exhibit characteristic his- topathological findings of FHC. One of the hallmarks of FHC in humans is a wide range of histopathological findings, includ- ing variable degrees of ... See full document
13
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations
... Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial ...missense mutations in the beta cardiac myosin heavy chain ... See full document
7
Genomic insights into cardiomyopathies: a comparative cross species review
... ventricular cardiomyopathy (ARVC also called ARVD) is characterised by fibro fatty replacement of the right ventricular myocardium ...and cardiac rhythm are affected, leading to heart failure ...been ... See full document
26
Novel splice donor site mutation in the cardiac myosin binding protein C gene in familial hypertrophic cardiomyopathy Characterization Of cardiac transcript and protein
... by mutations in the cardiac ...of mutations are typical for genes that are known genetic causes of ...the human cardiac b myo- sin heavy chain gene, point mutations that locate ... See full document
9
Related subjects