Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy (Q28202732)

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3 November 2019

title

Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy (English)

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3 November 2019

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6

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3 November 2019

author name string

Jian-Ping Jin

1

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3 November 2019

Marco A Brotto

2

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3 November 2019

M Moazzem Hossain

3

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3 November 2019

Qi-Quan Huang

4

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3 November 2019

Leticia S Brotto

5

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3 November 2019

D Holmes Morton

7

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3 November 2019

Thomas O Crawford

8

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3 November 2019

language of work or name

English

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publication date

5 May 2003

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Journal of Biological Chemistry

3 November 2019

published in

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3 November 2019

volume

278

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3 November 2019

issue

28

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3 November 2019

page(s)

26159-26165

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Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

3 November 2019

cites work

1 reference

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A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

21 January 2018

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Thin filament-mediated regulation of cardiac contraction

21 January 2018

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Troponin T: genetics, properties and function

21 January 2018

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Genomic sequence and structural organization of mouse slow skeletal muscle troponin T gene

21 January 2018

1 reference

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Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M303469200

Complete nucleotide sequence of the fast skeletal troponin T gene. Alternatively spliced exons exhibit unusual interspecies divergence

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M303469200

Complete nucleotide sequence and structural organization of rat cardiac troponin T gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M303469200

Three alternatively spliced mouse slow skeletal muscle troponin T isoforms: conserved primary structure and regulated expression during postnatal development

21 January 2018

1 reference

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Primary structure and developmental acidic to basic transition of 13 alternatively spliced mouse fast skeletal muscle troponin T isoforms

21 January 2018

1 reference

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Alternative RNA splicing-generated cardiac troponin T isoform switching: a non-heart-restricted genetic programming synchronized in developing cardiac and skeletal muscles

21 January 2018

1 reference

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Expression of cDNAs encoding mouse cardiac troponin T isoforms: characterization of a large sample of independent clones

21 January 2018

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Developmentally regulated, alternative RNA splicing-generated pectoral muscle-specific troponin T isoforms and role of the NH2-terminal hypervariable region in the tolerance to acidosis

21 January 2018

1 reference

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Conformational modulation of troponin T by configuration of the NH2-terminal variable region and functional effects

21 January 2018

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A review of recent advances in stereology for quantifying neural structure

21 January 2018

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Interactions between nebulin-like motifs and thin filament regulatory proteins

21 January 2018

1 reference

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The highly conserved COOH terminus of troponin I forms a Ca2+-modulated allosteric domain in the troponin complex

21 January 2018

1 reference

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Fast skeletal muscle troponin T increases the cooperativity of transgenic mouse cardiac muscle contraction.

21 January 2018

1 reference

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Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

21 January 2018

1 reference

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Developmental genetic analysis of troponin T mutations in striated and nonstriated muscle cells of Caenorhabditis elegans

21 January 2018

1 reference

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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

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A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

21 January 2018

1 reference

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Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

21 January 2018

1 reference

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Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

21 January 2018

1 reference

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Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M303469200

Preserved close linkage between the genes encoding troponin I and troponin T, reflecting an evolution of adapter proteins coupling the Ca(2+) signaling of contractility

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M303469200

21 January 2018

Identifiers

DOI

10.1074/JBC.M303469200

2 references

Consolidated OpenCitations Corpus – April 2017

2990801

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3 November 2019

2990801

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2990801