Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Bibliografiset tiedot
Päätekijät:	Abdulrazzak, H, Knott, A, Redwood, C, Esposito, G, Watkins, H, Marston, S
Aineistotyyppi:	Journal article
Julkaistu:	2001

Samankaltaisia teoksia

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
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Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
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Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.
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Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein.
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Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
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Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
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Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
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Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.
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Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
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Investigating the Effect of Cardiomyopathy-Causing Mutations in Cardiac Troponin-T on Calcium Buffering In Situ
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The effect of HCM mutations in troponin T and troponin I on the calcium binding of human cardiac troponin
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Structure-function relationships of eight mutations in troponin and tropomyosin that cause dilated cardiomyopathy
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A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
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Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca2+-sensitivity and suppress the modulation of Ca2+-sensitivity by troponin I phosphorylation
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Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
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Using fluorescence emission spectroscopy to asses the Ca2+ affinity of reconstituted troponin and thin filaments containing cardiomyopathy causing mutations of troponin and alpha-tropomyosin
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Myofibrillar Ca(2+) sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T.
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Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
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An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.
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Ca2+regulatory properties of a truncated troponin T that causes FHC depend on the ratio of mutant to wild-type peptide.
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Hypertrophic and dilated cardiomyopathycausing mutations of troponin and alpha-tropomyosin have opposite effects on thin filament calcium binding
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Dilated cardiomyopathy causing mutations in cardiac troponin T (TNT), cardiac troponin C (TNC), and alpha tropomyosin (TM) reduce CA(2+) sensitivity and maximum calcium activation
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Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
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A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I.
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Hypertrophic Cardiomyopathy Mutations of Troponin Reveal Details of Striated Muscle Regulation
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
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How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
Tekijä: Marston, S, et al.
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Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
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Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
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Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
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Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations
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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
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Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
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Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*.
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Mouse Model of Familial Hypertrophic Cardiomyopathy with E99K ACTC Mutation Recapitulates Many Features of Hypertrophic Cardiomyopathy in Patients
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Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
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Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
Tekijä: Blair, E, et al.
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Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
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