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.

عرض إصدارات أخرى (1)

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Blair, E, Redwood, C, Ashrafian, H, Oliveira, M, Broxholme, J, Kerr, B, Salmon, A, Ostman-Smith, I, Watkins, H
التنسيق:	Journal article
منشور في:	2001

مواد مشابهة

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.
حسب: Blair, E, وآخرون
منشور في: (2001)

Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis
حسب: Blair, E, وآخرون
منشور في: (2001)

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
حسب: Oliveira, S, وآخرون
منشور في: (2003)

Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
حسب: Grignani, R, وآخرون
منشور في: (2005)

Mutation analysis of genes encoding subunits of AMP-activated protein kinase (AMPK) in inherited cardiomyopathies
حسب: Blair, E, وآخرون
منشور في: (2002)

Mutation analysis of genes encoding Subunits of AMP-activated protein kinase (AMPK) in inherited cardiomyopathies
حسب: Oliveira, M, وآخرون
منشور في: (2002)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
حسب: Ashrafian, H, وآخرون
منشور في: (2005)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
حسب: Ashrafian, H, وآخرون
منشور في: (2003)

Myocardial dysfunction in hypertrophic cardiomyopathy.
حسب: Ashrafian, H, وآخرون
منشور في: (2001)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
حسب: Blair, E, وآخرون
منشور في: (2003)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
حسب: Blair, E, وآخرون
منشور في: (2000)

The genetics of hypertrophic cardiomyopathy: Teare redux.
حسب: Watkins, H, وآخرون
منشور في: (2008)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
حسب: Blair, E, وآخرون
منشور في: (2001)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
حسب: Blair, E, وآخرون
منشور في: (2002)

Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.
حسب: Ashrafian, H, وآخرون
منشور في: (2011)

Exercise-induced ventricular dysfunction in hypertrophic cardiomyopathy: stunning by any other name?
حسب: Ashrafian, H, وآخرون
منشور في: (2008)

Inherited cardiomyopathies.
حسب: Watkins, H, وآخرون
منشور في: (2011)

Inherited cardiomyopathies.
حسب: Watkins, H, وآخرون
منشور في: (2011)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
حسب: Redwood, C, وآخرون
منشور في: (2003)

Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing
حسب: Reid, S, وآخرون
منشور في: (2011)

Linked genetic modifiers in hypertrophic cardiomyopathy
حسب: Ektisham, J, وآخرون
منشور في: (2004)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
حسب: Abdulrazzak, H, وآخرون
منشور في: (2001)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
حسب: Elliott, K, وآخرون
منشور في: (2000)

Sudden death in hypertrophic cardiomyopathy.
حسب: Watkins, H
منشور في: (2000)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
حسب: Burton, D, وآخرون
منشور في: (2002)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
حسب: Carballo, S, وآخرون
منشور في: (2003)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
حسب: Elliott, K, وآخرون
منشور في: (2000)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
حسب: Carballo, S, وآخرون
منشور في: (2005)

Evaluation of Clinical Diagnostic Potential of Next Generation Sequencing using Hypertrophic Cardiomyopathy as a Model
حسب: Taylor, J, وآخرون
منشور في: (2010)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
حسب: Robinson, P, وآخرون
منشور في: (2002)

HYPERTROPHIC CARDIOMYOPATHY: GENETIC ALTERATIONS, PATHOGENESIS AND PATHOPHYSIOLOGY
حسب: N. T. Vatutin, وآخرون
منشور في: (2014-05-01)

Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
حسب: Zeyi Cheng, وآخرون
منشور في: (2021-10-01)

METABOLIC ALTERATION IN HYPERTROPHIC CARDIOMYOPATHY (METAL-HCM STUDY): RANDOMISED DOUBLE BLINDED PLACEBO CONTROLLED TRIAL OF PERHEXILINE THERAPY IN PATIENT WITH HYPERTROPHIC CARDIOMYOPATHY
حسب: Abozguia, K, وآخرون
منشور في: (2010)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
حسب: Carballo, S, وآخرون
منشور في: (2005)

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
حسب: Wordsworth, S, وآخرون
منشور في: (2006)

Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing.
حسب: Ashrafian, H, وآخرون
منشور في: (2007)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
حسب: Carballo, S, وآخرون
منشور في: (2005)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
حسب: Hudsmith, L, وآخرون
منشور في: (2006)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
حسب: Robinson, P, وآخرون
منشور في: (2007)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
حسب: Watkins, H
منشور في: (2003)