(Q36954073)

17 August 2017

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology (English)

1 reference

17 August 2017

0 references

familial cardiomyopathy

1 reference

S C Menon

1

1 reference

17 August 2017

V V Michels

2

1 reference

17 August 2017

P A Pellikka

3

1 reference

17 August 2017

J D Ballew

4

1 reference

17 August 2017

M L Karst

5

1 reference

17 August 2017

K J Herron

6

1 reference

17 August 2017

S M Nelson

7

1 reference

17 August 2017

R J Rodeheffer

8

1 reference

17 August 2017

T M Olson

9

1 reference

17 August 2017

language of work or name

1 reference

21 July 2008

1 reference

17 August 2017

1 reference

17 August 2017

74

1 reference

17 August 2017

5

1 reference

17 August 2017

445-454

1 reference

Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

The genetic basis for cardiac remodeling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Utility of echocardiography in the evaluation of individuals with cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Echocardiographic assessment of patients with hypertrophic and restrictive cardiomyopathy: imaging and echocardiography

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Sudden death due to troponin T mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Mapping a cardiomyopathy locus to chromosome 3p22-p25.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Prevalence, Clinical Significance, and Genetic Basis of Hypertrophic Cardiomyopathy With Restrictive Phenotype

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Restrictive Cardiomyopathy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2575134

Enlarged left atrial volume in hypertrophic cardiomyopathy: a marker for disease severity

4 December 2018

1 reference

12 December 2020

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

1 reference

12 December 2020

A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy

1 reference

12 December 2020

Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation

1 reference

12 December 2020

Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction

1 reference

12 December 2020

Implications of left ventricular remodeling in hypertrophic cardiomyopathy

1 reference

12 December 2020

10.1111/J.1399-0004.2008.01062.X

Identifiers

DOI

1 reference

release_lczhk4t6unfw7gryrulppfi4a4

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lczhk4t6unfw7gryrulppfi4a4

24 November 2022

mapped directly with Wikidata item

1 reference

17 August 2017

1 reference