(Q48324170)

10 February 2018

title

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

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10 February 2018

J G Seidman

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10 February 2018

Christine E. Seidman

object named as

Christine Seidman

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10 February 2018

author name string

Brenda Gerull

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10 February 2018

Michael Gramlich

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10 February 2018

John Atherton

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10 February 2018

Mark McNabb

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10 February 2018

Karoly Trombitás

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10 February 2018

Sabine Sasse-Klaassen

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10 February 2018

Henk Granzier

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10 February 2018

Siegfried Labeit

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10 February 2018

Michael Frenneaux

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10 February 2018

Ludwig Thierfelder

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10 February 2018

language of work or name

English

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publication date

14 January 2002

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10 February 2018

published in

Nature Genetics

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10 February 2018

volume

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10 February 2018

issue

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10 February 2018

page(s)

201-204

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10 February 2018

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

cites work

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7 January 2021

Muscle assembly: a titanic achievement?

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7 January 2021

Familial dilated cardiomyopathy locus maps to chromosome 2q31.

1 reference

7 January 2021

Titins: giant proteins in charge of muscle ultrastructure and elasticity

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7 January 2021

Titin: a molecular control freak

1 reference

7 January 2021

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

7 January 2021

Nonuniform elasticity of titin in cardiac myocytes: a study using immunoelectron microscopy and cellular mechanics

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7 January 2021

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

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7 January 2021

Differential expression of cardiac titin isoforms and modulation of cellular stiffness

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7 January 2021

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain

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7 January 2021

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

1 reference

7 January 2021

Calcium-induced splitting of connectin filaments into beta-connectin and a 1,200-kDa subfragment

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7 January 2021

The immunoglobulin fold family: sequence analysis and 3D structure comparisons

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7 January 2021

Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs

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7 January 2021

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

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7 January 2021

Genetics and dilated cardiomyopathy: limitations of candidate gene strategies

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7 January 2021

Cardiomyopathy in zebrafish due to mutation in an alternatively spliced exon of titin

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/NG815

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10 February 2018

Dimensions Publication ID

1004979065

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10 February 2018