Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. (Q52932636)

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scientific article published on 6 May 2006

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English	Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.	scientific article published on 6 May 2006

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

title

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

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

author

Arnd Heuser

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5

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Europe PubMed Central

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16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

author name string

Brenda Gerull

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1

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

John Atherton

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2

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PubMed publication ID

16733766

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9 May 2018

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Anke Geupel

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3

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

Sabine Sasse-Klaassen

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4

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16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

Michael Frenneaux

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6

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PubMed publication ID

16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

Mark McNabb

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7

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PubMed publication ID

16733766

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9 May 2018

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http://europepmc.org/abstract/MED/16733766

Henk Granzier

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8

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

Siegfried Labeit

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9

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

Ludwig Thierfelder

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10

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PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

publication date

6 May 2006

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

published in

Journal of Molecular Medicine

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

volume

84

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

issue

6

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Europe PubMed Central

PubMed publication ID

16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

page(s)

478-483

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16733766

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9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

cites work

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00109-006-0060-6

retrieved

21 January 2018

Genetic causes of human heart failure

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00109-006-0060-6

retrieved

21 January 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic issues in familial dilated cardiomyopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency and phenotypes of familial dilated cardiomyopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From A to Z and back? Multicompartment proteins in the sarcomere.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Titins: giant proteins in charge of muscle ultrastructure and elasticity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Titin mutations as the molecular basis for dilated cardiomyopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The kinase domain of titin controls muscle gene expression and protein turnover

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16733766

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00109-006-0060-6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16733766

retrieved

9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

PubMed publication ID

16733766

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16733766

retrieved

9 May 2018

reference URL

http://europepmc.org/abstract/MED/16733766

 

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