Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes (Q35197101)

7 August 2017

title

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes (English)

1 reference

arrhythmogenic right ventricular cardiomyopathy

7 August 2017

main subject

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1 reference

Julius Bogomolovas

13

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Bernd Simon

Bernd Simon

12

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Luisa Mestroni

Luisa Mestroni

16

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Gianfranco Sinagra

Gianfranco Sinagra

3

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Siegfried Labeit

14

Siegfried Labeit

1 reference

7 August 2017

15

Henk Granzier

1 reference

7 August 2017

Matthew Taylor

1

1 reference

7 August 2017

Sharon Graw

2

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7 August 2017

Carl Barnes

4

1 reference

7 August 2017

Dobromir Slavov

5

1 reference

7 August 2017

Francesca Brun

6

1 reference

7 August 2017

Bruno Pinamonti

7

1 reference

7 August 2017

Ernesto E Salcedo

8

1 reference

7 August 2017

William Sauer

9

1 reference

7 August 2017

Stylianos Pyxaras

10

1 reference

7 August 2017

Brian Anderson

11

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7 August 2017

language of work or name

English

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publication date

1 August 2011

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7 August 2017

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7 August 2017

volume

124

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7 August 2017

issue

8

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7 August 2017

page(s)

876-885

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The giant protein titin as an integrator of myocyte signaling pathways

7 August 2017

cites work

1 reference

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Cardiac titin: a multifunctional giant

13 July 2018

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Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

13 July 2018

1 reference

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Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria

13 July 2018

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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy

13 July 2018

1 reference

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Stressing the giant: a new approach to understanding dilated cardiomyopathy

13 July 2018

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Physiological functions of the giant elastic protein titin in mammalian striated muscle

13 July 2018

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Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

13 July 2018

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Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

13 July 2018

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Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

13 July 2018

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Cardiac titin: structure, functions and role in disease

13 July 2018

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Automating sequence-based detection and genotyping of SNPs from diploid samples

13 July 2018

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The transitional junction: a new functional subcellular domain at the intercalated disc

13 July 2018

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Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes

13 July 2018

1 reference

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The giant protein titin: a major player in myocardial mechanics, signaling, and disease

13 July 2018

1 reference

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Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling

13 July 2018

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Molecular Basis of Passive Stress Relaxation in Human Soleus Fibers: Assessment of the Role of Immunoglobulin-Like Domain Unfolding

13 July 2018

1 reference

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Mechanical unfolding of a titin Ig domain: structure of unfolding intermediate revealed by combining AFM, molecular dynamics simulations, NMR and protein engineering

13 July 2018

1 reference

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Human non-synonymous SNPs: server and survey

13 July 2018

1 reference

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Accounting for human polymorphisms predicted to affect protein function

13 July 2018

1 reference

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Titin mutations as the molecular basis for dilated cardiomyopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Exploring protein interiors: the role of a buried histidine in the KH module fold

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Unfolding of titin immunoglobulin domains by steered molecular dynamics simulation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study.

13 July 2018

1 reference

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Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

13 July 2018

1 reference

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Familial occurrence of right ventricular dysplasia: a study involving nine families

13 July 2018

1 reference

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Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry.

13 July 2018

1 reference

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Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy.

26 September 2018

1 reference

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Screening of fusion partners for high yield expression and purification of bioactive viscotoxins

26 September 2018

1 reference

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Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Molecular mechanics of cardiac titin's PEVK and N2B spring elements.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Cardiac-Specific Loss of N-Cadherin Leads to Alteration in Connexins With Conduction Slowing and Arrhythmogenesis

24 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria

8 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Modularity and homology: modelling of the type II module family from titin

8 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3167235

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity

8 December 2018

1 reference

12 December 2020

Cardiac titin isoforms are coexpressed in the half-sarcomere and extend independently

1 reference

12 December 2020

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy

1 reference

12 December 2020

Arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

1 reference

12 December 2020

Point mutations alter the mechanical stability of immunoglobulin modules

1 reference

12 December 2020

10.1161/CIRCULATIONAHA.110.005405

Identifiers

DOI

1 reference

7 August 2017

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7 August 2017

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