Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

BACKGROUND: Muscle LIM protein (MLP) is an essential nuclear regulator of myogenic differentiation. Additionally, it may act as an integrator of protein assembly of the actin-based cytoskeleton. MLP-knockout mice develop a marked cardiac hypertrophy reaction and dilated cardiomyopathy (DCM). MLP is...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Geier, C, Perrot, A, Ozcelik, C, Binner, P, Counsell, D, Hoffmann, K, Pilz, B, Martiniak, Y, Gehmlich, K, van der Ven, P, Fürst, DO, Vornwald, A, von Hodenberg, E, Nürnberg, P, Scheffold, T, Dietz, R, Osterziel, K
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2003

Eitemau Tebyg

Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy.
gan: Gehmlich, K, et al.
Cyhoeddwyd: (2004)

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
gan: Geier, C, et al.
Cyhoeddwyd: (2008)

Erratum: Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy (Human Molecular Genetics (2008) vol. 17 (18) (2753-2765) 10.1093/hmg/ddn160)
gan: Geier, C, et al.
Cyhoeddwyd: (2008)

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

Back to square one: what do we know about the functions of muscle LIM protein in the heart?
gan: Gehmlich, K, et al.
Cyhoeddwyd: (2008)

How low can you go – insight into the level of mutated protein required to cause pathogenic effects in hypertrophic cardiomyopathy
gan: Gehmlich, K
Cyhoeddwyd: (2022)

Sudden death in hypertrophic cardiomyopathy.
gan: Watkins, H
Cyhoeddwyd: (2000)

Myocardial dysfunction in hypertrophic cardiomyopathy.
gan: Ashrafian, H, et al.
Cyhoeddwyd: (2001)

The genetic architecture of hypertrophic cardiomyopathy
gan: Harper, AR
Cyhoeddwyd: (2020)

Linked genetic modifiers in hypertrophic cardiomyopathy
gan: Ektisham, J, et al.
Cyhoeddwyd: (2004)

Correlates of myocardial fibrosis in hypertrophic cardiomyopathy
gan: Kramer, CM, et al.
Cyhoeddwyd: (2018)

"MLP: A Stress Sensor Goes Nuclear" by Sylvia Gunkel, Jorg Heineke, Denise Hilfiker-Kleiner, Ralph Knoll, J Mol Cell Cardiol. 2009;47(4):423-5.
gan: Gehmlich, K, et al.
Cyhoeddwyd: (2010)

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

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

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

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
gan: Ashrafian, H, et al.
Cyhoeddwyd: (2005)

The genetics of hypertrophic cardiomyopathy: Teare redux.
gan: Watkins, H, et al.
Cyhoeddwyd: (2008)

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)

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry
gan: Neubauer, S, et al.
Cyhoeddwyd: (2019)

METABOLIC ALTERATION IN HYPERTROPHIC CARDIOMYOPATHY (METAL-HCM STUDY): RANDOMISED DOUBLE BLINDED PLACEBO CONTROLLED TRIAL OF PERHEXILINE THERAPY IN PATIENT WITH HYPERTROPHIC CARDIOMYOPATHY
gan: Abozguia, K, et al.
Cyhoeddwyd: (2010)

Metabolomics in hypertrophic cardiomyopathy and other myocardial diseases
gan: Pal, N
Cyhoeddwyd: (2015)

Effects of ranolazine on the arrhythmic substrate in hypertrophic cardiomyopathy
gan: Coleman, JA, et al.
Cyhoeddwyd: (2024)

The arrhythmic substrate of hypertrophic cardiomyopathy using ECG imaging
gan: Chow, J, et al.
Cyhoeddwyd: (2024)

Changes in the cardiac metabolome caused by perhexiline treatment in a mouse model of hypertrophic cardiomyopathy.
gan: Gehmlich, K, et al.
Cyhoeddwyd: (2014)

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM registry
gan: Neubauer, S, et al.
Cyhoeddwyd: (2019)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
gan: Wordsworth, S, et al.
Cyhoeddwyd: (2010)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
gan: Wordsworth, S, et al.
Cyhoeddwyd: (2010)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
gan: Toepfer, C, et al.
Cyhoeddwyd: (2019)

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

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

Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.
gan: Ashrafian, H, et al.
Cyhoeddwyd: (2011)

Effects of propranolol on response to exercise in hypertrophic obstructive cardiomyopathy.
gan: Edwards, R, et al.
Cyhoeddwyd: (1970)

The prognostic impact of septal myectomy in obstructive hypertrophic cardiomyopathy.
gan: Watkins, H, et al.
Cyhoeddwyd: (2005)

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

EFFECTS OF PROPRANOLOL ON RESPONSE TO EXERCISE IN HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY
gan: Edwards, R, et al.
Cyhoeddwyd: (1970)

Pharmacological management of hypertrophic cardiomyopathy: From bench to bedside
gan: Palandri, C, et al.
Cyhoeddwyd: (2022)

Mechanisms and prognostic impact of myocardial ischaemia in hypertrophic cardiomyopathy
gan: Coleman, JA, et al.
Cyhoeddwyd: (2023)

Progression of myocardial fibrosis in hypertrophic cardiomyopathy: mechanisms and clinical implications
gan: Raman, B, et al.
Cyhoeddwyd: (2018)

Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
gan: Waring, A, et al.
Cyhoeddwyd: (2020)

Mutant muscle LIM protein C58G causes cardiomyopathy through protein depletion
gan: Ehsan, M, et al.
Cyhoeddwyd: (2018)