(Q28307017)

familial hypertrophic cardiomyopathy

inferred from title

1 reference

1 reference

Theodore P Abraham

1

0 references

Michelle Jones

2

0 references

Katarzyna Kazmierczak

3

0 references

Hsin-Yueh Liang

4

0 references

Aurelio C Pinheiro

5

0 references

Cory S Wagg

6

0 references

Gary D Lopaschuk

7

0 references

Danuta Szczesna-Cordary

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

8

0 references

language of work or name

English

0 references

publication date

1 April 2009

0 references

published in

Cardiovascular Research

0 references

volume

82

0 references

issue

1

0 references

page(s)

84-92

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Calcium and cardiac rhythms: physiological and pathophysiological

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Altered intracellular Ca2+ handling in heart failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Regulatory light chains of striated muscle myosin. Structure, function and malfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Hypertrophic cardiomyopathy: a systematic review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Molecular genetic studies of familial hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Noninvasive doppler echocardiographic evaluation of left ventricular filling pressures in patients with cardiomyopathies: a simultaneous Doppler echocardiographic and cardiac catheterization study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

Binding of monovalent and divalent myosin fragments onto sites on actin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721639

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

29 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVP016

Familial Hypertrophic Cardiomyopathy-linked Alterations in Ca2+ Binding of Human Cardiac Myosin Regulatory Light Chain Affect Cardiac Muscle Contraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVP016

Beneficial effects of trimetazidine in ex vivo working ischemic hearts are due to a stimulation of glucose oxidation secondary to inhibition of long-chain 3-ketoacyl coenzyme a thiolase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVP016

Activation of striated muscle: nearest-neighbor regulatory-unit and cross-bridge influence on myofilament kinetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVP016

The purification of cardiac myofibrils with Triton X-100

21 January 2018

1 reference

12 December 2020

Echocardiographic measurement of left ventricular mass and volume in normotensive and hypertensive rats. Necropsy validation

1 reference

12 December 2020

Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations

1 reference

12 December 2020

Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients

1 reference

12 December 2020

Identifiers

DOI

10.1093/CVR/CVP016

1 reference

release_y24jyljmhvdmzjfme6gza3inbe

Fatcat ID

0 references

1 reference

1 reference

PubMed publication ID

19150977

1 reference