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

Opis bibliograficzny
Główni autorzy:	Carballo, S, Blair, E, Watkins, H
Format:	Conference item
Wydane:	2004

Podobne zapisy

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
od: Carballo, S, i wsp.
Wydane: (2004)

Autosomal dominant HCM and DCM phenotype caused by a novel mutation in phospholamban
od: Carballo, S, i wsp.
Wydane: (2004)

Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
od: Carballo, S, i wsp.
Wydane: (2006)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
od: Carballo, S, i wsp.
Wydane: (2003)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
od: Carballo, S, i wsp.
Wydane: (2005)

A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome
od: Casian Mihnea, i wsp.
Wydane: (2023-09-01)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
od: Carballo, S, i wsp.
Wydane: (2005)

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
od: Carballo, S, i wsp.
Wydane: (2009)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
od: Carballo, S, i wsp.
Wydane: (2005)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
od: Robinson, P, i wsp.
Wydane: (2002)

Structures of PKA–phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy
od: Juan Qin, i wsp.
Wydane: (2022-03-01)

Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
od: Yilu Wang, i wsp.
Wydane: (2013-01-01)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
od: Blair, E, i wsp.
Wydane: (2001)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
od: Blair, E, i wsp.
Wydane: (2000)

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

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
od: Blair, E, i wsp.
Wydane: (2003)

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
od: Niloofar Naderi, i wsp.
Wydane: (2023-10-01)

Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
od: Suttie, J, i wsp.
Wydane: (2011)

Obesity-related ventricular remodelling is exacerbated in dilated and hypertrophic cardiomyopathy
od: Rayner, JJ, i wsp.
Wydane: (2020)

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the <it>MYBPC3 </it>gene
od: Lehrke Stephanie, i wsp.
Wydane: (2008-10-01)

Hypertrophic, Dilated, and Arrhythmogenic Cardiomyopathy: Where Are We?
od: Hamza El Hadi, i wsp.
Wydane: (2023-02-01)

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy
od: Seitaro Nomura, i wsp.
Wydane: (2023-03-01)

MicroRNAs in Hypertrophic, Arrhythmogenic and Dilated Cardiomyopathy
od: Enrica Chiti, i wsp.
Wydane: (2021-09-01)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
od: Hudsmith, L, i wsp.
Wydane: (2006)

Dilated cardiomyopathy and the desmin gene.
od: Mayosi, B, i wsp.
Wydane: (2000)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
od: Abdulrazzak, H, i wsp.
Wydane: (2001)

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
od: Shiv Kumar Viswanathan, i wsp.
Wydane: (2017-01-01)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
od: Robinson, P, i wsp.
Wydane: (2007)

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
od: Lina Basel-Vanagaite, i wsp.
Wydane: (2008-06-01)

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review
od: LI Fan, i wsp.
Wydane: (2021-03-01)

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
od: Megan J. Puckelwartz, i wsp.
Wydane: (2021-04-01)

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
od: Lakdawala, N, i wsp.
Wydane: (2010)

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?
od: Jiri Bonaventura, i wsp.
Wydane: (2023-06-01)

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
od: Val A. Fajardo, i wsp.
Wydane: (2015-08-01)

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes
od: Lorenzo Alamo, i wsp.
Wydane: (2017-06-01)

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
od: Atiyeh M Abdallah, i wsp.
Wydane: (2019-01-01)

A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy
od: Dong J, i wsp.
Wydane: (2025-01-01)

Linked genetic modifiers in hypertrophic cardiomyopathy
od: Ektisham, J, i wsp.
Wydane: (2004)

Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair
od: Colin Kincaid, BS, i wsp.
Wydane: (2023-06-01)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
od: Marston, S, i wsp.
Wydane: (2009)