(Q24291196)

4 July 2017

title

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene (English)

1 reference

Actin alpha 1, skeletal muscle

4 July 2017

main subject

1 reference

skeletal muscle thin filament assembly

GOA release 2020-03-11

1 reference

ORCID Public Data File 2021

GOA release 2020-03-11

1 reference

1 reference

Nigel G Laing

1 reference

ORCID Public Data File 2021

Ilkovski B

Ilkovski

1 reference

4 July 2017

Cooper ST

S T

Cooper

1 reference

4 July 2017

Nowak K

Nowak

1 reference

4 July 2017

Ryan MM

M M

Ryan

1 reference

4 July 2017

Yang N

Yang

1 reference

4 July 2017

Schnell C

Schnell

1 reference

4 July 2017

Durling HJ

H J

Durling

1 reference

4 July 2017

Roddick LG

L G

Roddick

1 reference

4 July 2017

Wilkinson I

Wilkinson

1 reference

4 July 2017

Kornberg AJ

A J

Kornberg

1 reference

4 July 2017

Collins KJ

K J

Collins

1 reference

4 July 2017

Wallace G

1 reference

4 July 2017

Gunning P

Gunning

1 reference

4 July 2017

Hardeman EC

E C

Hardeman

1 reference

4 July 2017

Laing NG

1 reference

4 July 2017

North KN

K N

North

1 reference

4 July 2017

language of work or name

English

0 references

publication date

27 April 2001

1 reference

American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

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4 July 2017

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4 July 2017

page(s)

1333-1343

1 reference

describes a project that uses

4 July 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1226120/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Differential regulation of tropomyosin isoform organization and gene expression in response to altered actin gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Atomic structure of the actin:DNase I complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Atomic model of the actin filament

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Regulation and kinetics of the actin-myosin-ATP interaction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Data on fibre size in thirty-six human muscles. An autopsy study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

The structure and function of alpha-actinin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Skeletal actin mRNA increases in the human heart during ontogenic development and is the major isoform of control and failing adult hearts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Reappearance of the minor α-sarcomeric actins in postnatal muscle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226120

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

29 November 2018

1 reference

12 December 2020

Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence

1 reference

12 December 2020

Protein cognitive sites on the surface of actin. A proton NMR study

1 reference

12 December 2020

Further characterization of a conserved actin-binding 27-kDa fragment of actinogelin and alpha-actinins and mapping of their binding sites on the actin molecule by chemical cross-linking

1 reference

12 December 2020

Localization and identification of actin structures involved in the filamin-actin interaction

1 reference

12 December 2020

Further characterization of the alpha-actinin-actin interface and comparison with filamin-binding sites on actin

1 reference

12 December 2020

Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy

1 reference

12 December 2020

Congenital myopathy with excess of thin myofilaments

1 reference

12 December 2020

Fetal akinesia sequence caused by nemaline myopathy

1 reference

12 December 2020

Identifiers

DOI

10.1086/320605

1 reference

release_ojsxdmy7bjen3famltzmcq34km

4 July 2017

Fatcat ID

0 references

PMC publication ID

1226120

1 reference

4 July 2017

1 reference