(Q53853332)

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PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

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Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/21167350

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing (English)

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

hypertrophic cardiomyopathy

1 reference

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Andrew P. Landstrom

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

Michael J Ackerman

5

object named as

Michael J Ackerman

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

author name string

Babatunde A Adekola

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

J Martijn Bos

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

Steve R Ommen

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

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publication date

1 January 2011

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Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/21167350

American Heart Journal

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

161

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

165-171

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence for an association between the -36A>C phospholamban gene polymorphism and a worse prognosis in heart failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The nature of the modulation of Ca2+ transport as studied by reconstitution of cardiac sarcoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Causes of sudden death in competitive athletes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence analysis of phospholamban. Identification of phosphorylation sites and two major structural domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden death in young athletes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1016/J.AHJ.2010.08.001

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

release_v6dsi6hprbgejoow65uuv2v3r4

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24 November 2022

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6311091&resulttype=core&format=json

13 May 2020

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