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.

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.

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Bibliografiske detaljer
Main Authors:	Blair, E, Redwood, C, Ashrafian, H, Oliveira, M, Broxholme, J, Kerr, B, Salmon, A, Ostman-Smith, I, Watkins, H
Format:	Journal article
Udgivet:	2001

Lignende værker

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.
af: Blair, E, et al.
Udgivet: (2001)

Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis
af: Blair, E, et al.
Udgivet: (2001)

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
af: Oliveira, S, et al.
Udgivet: (2003)

Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
af: Grignani, R, et al.
Udgivet: (2005)

Mutation analysis of genes encoding subunits of AMP-activated protein kinase (AMPK) in inherited cardiomyopathies
af: Blair, E, et al.
Udgivet: (2002)

Mutation analysis of genes encoding Subunits of AMP-activated protein kinase (AMPK) in inherited cardiomyopathies
af: Oliveira, M, et al.
Udgivet: (2002)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
af: Ashrafian, H, et al.
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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
af: Ashrafian, H, et al.
Udgivet: (2003)

Myocardial dysfunction in hypertrophic cardiomyopathy.
af: Ashrafian, H, et al.
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Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
af: Blair, E, et al.
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Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
af: Blair, E, et al.
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The genetics of hypertrophic cardiomyopathy: Teare redux.
af: Watkins, H, et al.
Udgivet: (2008)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
af: Blair, E, et al.
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Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
af: Blair, E, et al.
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Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.
af: Ashrafian, H, et al.
Udgivet: (2011)

Exercise-induced ventricular dysfunction in hypertrophic cardiomyopathy: stunning by any other name?
af: Ashrafian, H, et al.
Udgivet: (2008)

Inherited cardiomyopathies.
af: Watkins, H, et al.
Udgivet: (2011)

Inherited cardiomyopathies.
af: Watkins, H, et al.
Udgivet: (2011)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
af: Redwood, C, et al.
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Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing
af: Reid, S, et al.
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Linked genetic modifiers in hypertrophic cardiomyopathy
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Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
af: Abdulrazzak, H, et al.
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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
af: Elliott, K, et al.
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Sudden death in hypertrophic cardiomyopathy.
af: Watkins, H
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Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
af: Burton, D, et al.
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
af: Carballo, S, et al.
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Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
af: Elliott, K, et al.
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Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
af: Carballo, S, et al.
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Evaluation of Clinical Diagnostic Potential of Next Generation Sequencing using Hypertrophic Cardiomyopathy as a Model
af: Taylor, J, et al.
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Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
af: Robinson, P, et al.
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HYPERTROPHIC CARDIOMYOPATHY: GENETIC ALTERATIONS, PATHOGENESIS AND PATHOPHYSIOLOGY
af: N. T. Vatutin, et al.
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Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
af: Zeyi Cheng, et al.
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METABOLIC ALTERATION IN HYPERTROPHIC CARDIOMYOPATHY (METAL-HCM STUDY): RANDOMISED DOUBLE BLINDED PLACEBO CONTROLLED TRIAL OF PERHEXILINE THERAPY IN PATIENT WITH HYPERTROPHIC CARDIOMYOPATHY
af: Abozguia, K, et al.
Udgivet: (2010)

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

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
af: Wordsworth, S, et al.
Udgivet: (2006)

Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing.
af: Ashrafian, H, et al.
Udgivet: (2007)

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

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

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

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
af: Watkins, H
Udgivet: (2003)