Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Xehetasun bibliografikoak
Egile Nagusiak:	Abdulrazzak, H, Knott, A, Redwood, C, Esposito, G, Watkins, H, Marston, S
Formatua:	Journal article
Argitaratua:	2001

Antzeko izenburuak

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
nork: Robinson, P, et al.
Argitaratua: (2002)

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
nork: Burton, D, et al.
Argitaratua: (2002)

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.
nork: Robinson, P, et al.
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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.
nork: Redwood, C, et al.
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Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
nork: Robinson, P, et al.
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Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
nork: Elliott, K, et al.
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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
nork: Elliott, K, et al.
Argitaratua: (2000)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
nork: Burton, D, et al.
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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.
nork: Bing, W, et al.
Argitaratua: (2000)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
nork: Burton, D, et al.
Argitaratua: (2000)

Investigating the Effect of Cardiomyopathy-Causing Mutations in Cardiac Troponin-T on Calcium Buffering In Situ
nork: Robinson, P, et al.
Argitaratua: (2010)

The effect of HCM mutations in troponin T and troponin I on the calcium binding of human cardiac troponin
nork: Redwood, C, et al.
Argitaratua: (2001)

Structure-function relationships of eight mutations in troponin and tropomyosin that cause dilated cardiomyopathy
nork: Mirza, M, et al.
Argitaratua: (2004)

A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
nork: Burton, D, et al.
Argitaratua: (2000)

Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca2+-sensitivity and suppress the modulation of Ca2+-sensitivity by troponin I phosphorylation
nork: Messer, A, et al.
Argitaratua: (2016)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
nork: Robinson, P, et al.
Argitaratua: (2007)

Using fluorescence emission spectroscopy to asses the Ca2+ affinity of reconstituted troponin and thin filaments containing cardiomyopathy causing mutations of troponin and alpha-tropomyosin
nork: Robinson, P, et al.
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Myofibrillar Ca(2+) sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T.
nork: Bayliss, C, et al.
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Direct evidence in man for haploinsufficiency as the mechanism of action of myosin-binding protein C mutations that cause hypertrophic cardiomyopathy
nork: Carballo, S, et al.
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Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
nork: Marston, S, et al.
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An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.
nork: Gayatri Ramachandran, et al.
Argitaratua: (2013-01-01)

Ca2+regulatory properties of a truncated troponin T that causes FHC depend on the ratio of mutant to wild-type peptide.
nork: Redwood, C, et al.
Argitaratua: (2000)

Hypertrophic and dilated cardiomyopathycausing mutations of troponin and alpha-tropomyosin have opposite effects on thin filament calcium binding
nork: Robinson, P, et al.
Argitaratua: (2007)

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
nork: Redwood, C, et al.
Argitaratua: (2004)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
nork: Hudsmith, L, et al.
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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.
nork: Preston, L, et al.
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Hypertrophic Cardiomyopathy Mutations of Troponin Reveal Details of Striated Muscle Regulation
nork: J. M. Chalovich, et al.
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
nork: Carballo, S, et al.
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How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
nork: Marston, S, et al.
Argitaratua: (2012)

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
nork: Robinson, P, et al.
Argitaratua: (2007)

Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
nork: Carballo, S, et al.
Argitaratua: (2006)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
nork: Blair, E, et al.
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Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations
nork: Sparrow, AJ, et al.
Argitaratua: (2020)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
nork: Ashrafian, H, et al.
Argitaratua: (2003)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
nork: Redwood, C, et al.
Argitaratua: (2003)

Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*.
nork: Alison Y Li, et al.
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Mouse Model of Familial Hypertrophic Cardiomyopathy with E99K ACTC Mutation Recapitulates Many Features of Hypertrophic Cardiomyopathy in Patients
nork: Song, W, et al.
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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.
nork: Blair, E, et al.
Argitaratua: (2001)

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.
nork: Blair, E, et al.
Argitaratua: (2001)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
nork: Carballo, S, et al.
Argitaratua: (2005)