A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance

Bibliografiske detaljer
Main Authors:	Carballo, S, Blair, E, Watkins, H
Format:	Conference item
Udgivet:	2004

Lignende værker

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

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

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

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

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

A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome
af: Casian Mihnea, et al.
Udgivet: (2023-09-01)

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

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

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

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

Structures of PKA–phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy
af: Juan Qin, et al.
Udgivet: (2022-03-01)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
af: Blair, E, et al.
Udgivet: (2001)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
af: Blair, E, et al.
Udgivet: (2000)

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

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

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
af: Niloofar Naderi, et al.
Udgivet: (2023-10-01)

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

Obesity-related ventricular remodelling is exacerbated in dilated and hypertrophic cardiomyopathy
af: Rayner, JJ, et al.
Udgivet: (2020)

Hypertrophic, Dilated, and Arrhythmogenic Cardiomyopathy: Where Are We?
af: Hamza El Hadi, et al.
Udgivet: (2023-02-01)

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy
af: Seitaro Nomura, et al.
Udgivet: (2023-03-01)

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

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

Dilated cardiomyopathy and the desmin gene.
af: Mayosi, B, et al.
Udgivet: (2000)

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
af: Lina Basel-Vanagaite, et al.
Udgivet: (2008-06-01)

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)

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
af: Megan J. Puckelwartz, et al.
Udgivet: (2021-04-01)

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
af: Lakdawala, N, et al.
Udgivet: (2010)

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?
af: Jiri Bonaventura, et al.
Udgivet: (2023-06-01)

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
af: Val A. Fajardo, et al.
Udgivet: (2015-08-01)

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
af: Atiyeh M Abdallah, et al.
Udgivet: (2019-01-01)

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes
af: Lorenzo Alamo, et al.
Udgivet: (2017-06-01)

Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair
af: Colin Kincaid, BS, et al.
Udgivet: (2023-06-01)

A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy
af: Dong J, et al.
Udgivet: (2025-01-01)

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

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

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

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

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

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

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