Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy (Q28211536)

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14 December 2019

title

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy (English)

1 reference

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hypertrophic cardiomyopathy

14 December 2019

main subject

1 reference

2

1 reference

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14 December 2019

Almaz A. Aldashev

8

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14 December 2019

author name string

Zhyldyz T Kabaeva

1

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14 December 2019

Bastian Wolter

3

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14 December 2019

Rainer Dietz

4

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14 December 2019

Nuno Cardim

5

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14 December 2019

João Martins Correia

6

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14 December 2019

Hagen D Schulte

7

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14 December 2019

Mirsaid M Mirrakhimov

9

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14 December 2019

Karl Josef Osterziel

10

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14 December 2019

language of work or name

English

0 references

publication date

1 November 2002

1 reference

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European Journal of Human Genetics

14 December 2019

published in

1 reference

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14 December 2019

volume

10

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14 December 2019

issue

11

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14 December 2019

page(s)

741-748

1 reference

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Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

14 December 2019

cites work

1 reference

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Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

21 January 2018

1 reference

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Ventricular arrhythmias, sudden death, and prevention in patients with hypertrophic cardiomyopathy

21 January 2018

1 reference

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New concepts in hypertrophic cardiomyopathies, part I.

21 January 2018

1 reference

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The Genetic Basis for Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Contractile protein mutations and heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

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

21 January 2018

1 reference

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Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Three-dimensional structure of myosin subfragment-1: a molecular motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

The neck region of the myosin motor domain acts as a lever arm to generate movement

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Role of myosin light chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Tuning the human heart molecular motors by myosin light chains

21 January 2018

1 reference

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Report of the American Society of Echocardiography Committee on Nomenclature and Standards in Two-dimensional Echocardiography.

21 January 2018

1 reference

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Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Echocardiographic measurements in normal subjects from infancy to old age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

How sensitive is PCR-SSCP?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

Epidemiology of Hypertrophic Cardiomyopathy–Related Death

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200872

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200872

2 references

Consolidated OpenCitations Corpus – April 2017

695295

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release_uttsagffqbgupi353q4rdvvf7m

14 December 2019

Fatcat ID

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Fatcat

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mapped directly with Wikidata item

24 November 2022

based on heuristic

695295

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

695295

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