(Q42173357)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

12 February 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Paula Louise Hedley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Petros Syrris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Stephen P Page

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Johanna Catharina Moolman-Smook

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

William John McKenna

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Perry Mark Elliott

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Michael Christiansen

8

1 reference

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12 February 2020

publication date

11 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

Biochemistry Research International

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

685108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

12 February 2020

copyright license

start time

1 January 2012

1 reference

April 2022 Public Data File from Crossref

Creative Commons Attribution 3.0 Unported

0 references

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

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Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

26 October 2017

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Hypertrophic cardiomyopathy in high-fat diet-induced obesity: role of suppression of forkhead transcription factor and atrophy gene transcription

26 October 2017

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Gene mutations in apical hypertrophic cardiomyopathy

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Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

26 October 2017

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The obesity-associated peptide leptin induces hypertrophy in neonatal rat ventricular myocytes

26 October 2017

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Tuning smooth muscle contraction by molecular motors

26 October 2017

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

26 October 2017

1 reference

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Two distinct myosin light chain structures are induced by specific variations within the bound IQ motifs-functional implications

26 October 2017

1 reference

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Essential myosin light chain as a target for caspase-3 in failing myocardium

26 October 2017

1 reference

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Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

26 October 2017

1 reference

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Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

26 October 2017

1 reference

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Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations

26 October 2017

1 reference

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Molecular genetics and pathogenesis of hypertrophic cardiomyopathy

26 October 2017

1 reference

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Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy

26 October 2017

1 reference

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Tuning the human heart molecular motors by myosin light chains

26 October 2017

1 reference

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Familial hypertrophic cardiomyopathy: from mutations to functional defects

26 October 2017

1 reference

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Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

26 October 2017

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Structure of the regulatory domain of scallop myosin at 2 A resolution: implications for regulation

26 October 2017

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Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

26 October 2017

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Structure of the actin-myosin complex and its implications for muscle contraction

26 October 2017

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26 October 2017

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Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

26 October 2017

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Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

26 October 2017

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26 October 2017

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26 October 2017

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17 August 2018

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17 August 2018

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17 August 2018

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17 August 2018

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17 August 2018

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Crossref

https://api.crossref.org/works/10.1155%2F2012%2F685108

Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations

21 January 2018

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12 December 2020

Prevalence of dignostic abnormalities in patients with genetically transmitted asymmetric septal hypertrophy

1 reference

12 December 2020

Differential binding of rabbit fast muscle myosin light chain isoenzymes to regulated actin

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12 December 2020

Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain

1 reference

12 December 2020

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy

1 reference

12 December 2020

Identification of a novel Ala797Thr mutation in exon 21 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy

1 reference

12 December 2020

Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene

1 reference

12 December 2020

Identifiers

DOI

10.1155/2012/685108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

22957257

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22957257%20AND%20SRC:MED&resulttype=core&format=json