Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy

Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy

Xehetasun bibliografikoak
Egile Nagusiak:	Carballo, S, Redwood, C, Robinson, P, Blair, E, Watkins, H
Formatua:	Conference item
Argitaratua:	2006

Antzeko izenburuak

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
nork: Carballo, S, et al.
Argitaratua: (2009)

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
nork: Carballo, S, et al.
Argitaratua: (2004)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
nork: Carballo, S, et al.
Argitaratua: (2004)

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)

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

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.
Argitaratua: (2002)

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

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
nork: Mogensen, J, et al.
Argitaratua: (2004)

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)

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

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
nork: Elliott, K, 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)

Autosomal dominant HCM and DCM phenotype caused by a novel mutation in phospholamban
nork: Carballo, S, et al.
Argitaratua: (2004)

The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.
nork: Ferhaan Ahmad, et al.
Argitaratua: (2008-07-01)

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

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
nork: Abdulrazzak, H, et al.
Argitaratua: (2001)

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

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.
Argitaratua: (2007)

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)

The effect of HCM mutations in troponin T and troponin I on the calcium binding of human cardiac troponin
nork: Redwood, C, et al.
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Expression of cardiac troponin I in dilated and ischemic cardiomyopathy and its clinical significance
nork: Xian-Hua Li, et al.
Argitaratua: (2023-10-01)

The rapid analyses of cardiac troponins in dogs with dilated cardiomyopathy, distemper or parvoviral infection
nork: GÜNEŞ V, et al.
Argitaratua: (2014-11-01)

Dilated cardiomyopathy and the desmin gene.
nork: Mayosi, B, et al.
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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
nork: Lakdawala, N, et al.
Argitaratua: (2010)

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)

Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy
nork: Jennifer England, et al.
Argitaratua: (2017-07-01)

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

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

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

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
nork: Carballo, S, et al.
Argitaratua: (2005)

Cardiac troponin I is a potential novel substrate for AMP-activated protein kinase
nork: Oliveira, S, et al.
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Different expression and prognostic value of troponin in ischemic cardiomyopathy and non-ischemic dilated cardiomyopathy
nork: Wei Gao, et al.
Argitaratua: (2023-07-01)

Long-term prognostic value of high-sensitivity cardiac troponin-I in patients with idiopathic dilated cardiomyopathy
nork: Wang Yongchao, et al.
Argitaratua: (2023-11-01)

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
nork: Niloofar Naderi, 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.
Argitaratua: (2006)

The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.
nork: Mirza, M, et al.
Argitaratua: (2007)

Cardiomyopathy, familial dilated
nork: Mestroni Luisa, et al.
Argitaratua: (2006-07-01)

Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
nork: Suttie, J, et al.
Argitaratua: (2011)

Focus on cardiac troponin complex: From gene expression to cardiomyopathy
nork: Rosetta Ragusa, et al.
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Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM
nork: Lakdawala, N, et al.
Argitaratua: (2009)