Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys) (Q24674205)

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A Lionikas

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F Yu

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H Tajsharghi

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A Oldfors

describes a project that uses

5

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language of work or name

English

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publication date

November 2006

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published in

Neuromuscular Disorders

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volume

16

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issue

11

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page(s)

782-91

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ImageQuant

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1693964/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Familial hypertrophic cardiomyopathy: from mutations to functional defects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

A mouse model of familial hypertrophic cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Dynamics of actomyosin interactions in relation to the cross-bridge cycle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Myopathies associated with myosin heavy chain mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Cancer cachexia is regulated by selective targeting of skeletal muscle gene products

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Transitions of muscle fiber phenotypic profiles.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Regulation of human muscle contraction at the cellular and molecular levels.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

The effect of age on in vitro motility speed of slow myosin extracted from single rat soleus fibres

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Growth and muscle defects in mice lacking adult myosin heavy chain genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Sarcomere length-tension relations of frog skinned muscle fibres during calcium activation at short lengths

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

The velocity of unloaded shortening and its relation to sarcomere length and isometric force in vertebrate muscle fibres

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Calcium and strontium concentration changes within skinned muscle preparations following a change in the external bathing solution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

In vitro motility speed of slow myosin extracted from single soleus fibres from young and old rats

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Genetic determinants of weight of fast- and slow-twitch skeletal muscle in 500-day-old mice of the C57BL/6J and DBA/2J lineage

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Genetic architecture of fast- and slow-twitch skeletal muscle weight in 200-day-old mice of the C57BL/6J and DBA/2J lineage

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Effects of aging on actin sliding speed on myosin from single skeletal muscle cells of mice, rats, and humans

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Contractile properties in single muscle fibres from chronically overused motor units in relation to motoneuron firing properties in prior polio patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693964

Improved methodology for analysis and quantitation of proteins on one-dimensional silver-stained slab gels

28 November 2018

1 reference

12 December 2020

Computer programs for calculating total from specified free or free from specified total ionic concentrations in aqueous solutions containing multiple metals and ligands

1 reference

12 December 2020

Variations in contractile properties of rabbit single muscle fibres in relation to troponin T isoforms and myosin light chains

1 reference

12 December 2020

Fatigue of chronically overused motor units in prior polio patients

1 reference

12 December 2020

Effects of aging on shortening velocity and myosin isoform composition in single human skeletal muscle cells

1 reference

12 December 2020

Contractile studies of single human skeletal muscle fibers: a comparison of different muscles, permeabilization procedures, and storage techniques

1 reference

12 December 2020

Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles

1 reference

12 December 2020

Acute quadriplegia and loss of muscle myosin in patients treated with nondepolarizing neuromuscular blocking agents and corticosteroids: Mechanisms at the cellular and molecular levels

1 reference

12 December 2020

Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-ILb-perinatal-extraocular

1 reference

12 December 2020

Actomyosin interactions in a novel single muscle fiber in vitro motility assay

1 reference

12 December 2020

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings

1 reference

12 December 2020