Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression (Q34103296)

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English	Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

nemaline myopathy

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Connie Jackaman

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Connie Jackaman

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Nigel G Laing

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10

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Kay E Davies

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31 July 2017

Elyshia McNamara

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Elyshia McNamara

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31 July 2017

author name string

Gianina Ravenscroft

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31 July 2017

Caroline A Sewry

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31 July 2017

Sarah E Squire

5

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31 July 2017

Allyson C Potter

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31 July 2017

John Papadimitriou

7

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31 July 2017

Lisa M Griffiths

8

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31 July 2017

Anthony J Bakker

9

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31 July 2017

Kristen J Nowak

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31 July 2017

language of work or name

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publication date

9 December 2011

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Europe PubMed Central

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31 July 2017

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31 July 2017

6

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31 July 2017

12

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Europe PubMed Central

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31 July 2017

e28699

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Europe PubMed Central

PubMed publication ID

31 July 2017

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Creative Commons Attribution 4.0 International

9 December 2011

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April 2022 Public Data File from Crossref

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0 references

Differentiation and fiber type-specific activity of a muscle creatine kinase intronic enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

THE INCIDENCE OF RINGED FIBRES AND SARCOPLASMIC MASSES IN NORMAL AND DISEASED MUSCLE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Experimental induction of ring fibers in regenerating skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

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=3235150

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Expression of full-length utrophin prevents muscular dystrophy in mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Modular elements of the MLC 1f/3f locus confer fiber-specific transcription regulation in transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Cytoplasmic localization and nuclear transport of cofilin in cultured myotubes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Structure and expression of the human slow twitch skeletal muscle troponin I gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Nemaline myopathy rod bodies. Structure and composition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Contractile properties of skeletal muscles from young, adult and aged mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

Normal myogenic cells from newborn mice restore normal histology to degenerating muscles of the mdx mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

5 July 2018

NEMALINE MYOPATHY

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Novel RYR1 missense mutation causes core rod myopathy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Actin mutations are one cause of congenital fibre type disproportion

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Differential expression of myosin heavy chain isoforms between abductor and adductor muscles in the human larynx

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Length-tension relationships are altered in regenerating muscles of the rat after bupivacaine injection

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Localization of GFP in frozen sections from unfixed mouse tissues: immobilization of a highly soluble marker protein by formaldehyde vapor.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Mechanisms underlying intranuclear rod formation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235150

28 October 2018

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028699

21 January 2018

Myofiber adaptational response to exercise in a mouse model of nemaline myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hindlimb immobilization applied to 21-day-old mdx mice prevents the occurrence of muscle degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Colocalization of ADF and cofilin in intranuclear actin rods of cultured muscle cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Striated annulets (Ringbinden), their experimental production in mammalian muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of mouse myotilin and its promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22174871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0028699

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

2011PLoSO...628699R

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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