Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Manylion Llyfryddiaeth
Prif Awduron:	Abdulrazzak, H, Knott, A, Redwood, C, Esposito, G, Watkins, H, Marston, S
Fformat:	Journal article
Cyhoeddwyd:	2001

Eitemau Tebyg

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

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

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.
gan: Redwood, C, et al.
Cyhoeddwyd: (2000)

Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
gan: Robinson, P, et al.
Cyhoeddwyd: (2003)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
gan: Elliott, K, et al.
Cyhoeddwyd: (2000)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
gan: Elliott, K, et al.
Cyhoeddwyd: (2000)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
gan: Burton, D, et al.
Cyhoeddwyd: (2002)

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.
gan: Bing, W, et al.
Cyhoeddwyd: (2000)

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

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

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

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

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

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

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

Myofibrillar Ca(2+) sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T.
gan: Bayliss, C, et al.
Cyhoeddwyd: (2013)

Direct evidence in man for haploinsufficiency as the mechanism of action of myosin-binding protein C mutations that cause hypertrophic cardiomyopathy
gan: Carballo, S, et al.
Cyhoeddwyd: (2008)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
gan: Marston, S, et al.
Cyhoeddwyd: (2009)

An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.
gan: Gayatri Ramachandran, et al.
Cyhoeddwyd: (2013-01-01)

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

Hypertrophic and dilated cardiomyopathycausing mutations of troponin and alpha-tropomyosin have opposite effects on thin filament calcium binding
gan: Robinson, P, et al.
Cyhoeddwyd: (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
gan: Redwood, C, et al.
Cyhoeddwyd: (2004)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
gan: Hudsmith, L, et al.
Cyhoeddwyd: (2006)

A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I.
gan: Preston, L, et al.
Cyhoeddwyd: (2006)

Hypertrophic Cardiomyopathy Mutations of Troponin Reveal Details of Striated Muscle Regulation
gan: J. M. Chalovich, et al.
Cyhoeddwyd: (2022-05-01)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
gan: Carballo, S, et al.
Cyhoeddwyd: (2003)

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
gan: Marston, S, et al.
Cyhoeddwyd: (2012)

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

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

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
gan: Blair, E, et al.
Cyhoeddwyd: (2003)

Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations
gan: Sparrow, AJ, et al.
Cyhoeddwyd: (2020)

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

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

Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*.
gan: Alison Y Li, et al.
Cyhoeddwyd: (2013-01-01)

Mouse Model of Familial Hypertrophic Cardiomyopathy with E99K ACTC Mutation Recapitulates Many Features of Hypertrophic Cardiomyopathy in Patients
gan: Song, W, et al.
Cyhoeddwyd: (2008)

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.
gan: Blair, E, et al.
Cyhoeddwyd: (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.
gan: Blair, E, et al.
Cyhoeddwyd: (2001)

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