(Q29147570)

English

Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G

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scholarly article

1 reference

PubMed publication ID

4 April 2017

Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G (English)

1 reference

PubMed publication ID

4 April 2017

1 reference

GOA release 2020-03-11

calcium channel inhibitor activity

1 reference

GOA release 2020-03-11

long QT syndrome

1 reference

based on heuristic

inferred from title

Bjorn C. Knollmann

15

object named as

Björn C. Knollmann

1 reference

PubMed publication ID

4 April 2017

author name string

Nicole J. Boczek

1

1 reference

PubMed publication ID

4 April 2017

Nieves Gomez-Hurtado

2

1 reference

PubMed publication ID

4 April 2017

Dan Ye

3

1 reference

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4 April 2017

Melissa L. Calvert

4

1 reference

PubMed publication ID

4 April 2017

David J. Tester

5

1 reference

PubMed publication ID

4 April 2017

Dmytro O. Kryshtal

6

1 reference

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4 April 2017

Hyun Seok Hwang

7

1 reference

PubMed publication ID

4 April 2017

Christopher N. Johnson

8

1 reference

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4 April 2017

Walter J. Chazin

9

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4 April 2017

Christina G. Loporcaro

10

1 reference

PubMed publication ID

4 April 2017

Maully Shah

11

1 reference

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4 April 2017

Andrew L. Papez

12

1 reference

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4 April 2017

Yung R. Lau

13

1 reference

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4 April 2017

Ronald Kanter

14

1 reference

PubMed publication ID

4 April 2017

Michael J. Ackerman

16

1 reference

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4 April 2017

publication date

1 April 2016

1 reference

PubMed publication ID

4 April 2017

Circulation: Cardiovascular Genetics

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PubMed publication ID

4 April 2017

9

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4 April 2017

2

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4 April 2017

136–146

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4 April 2017

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

6 April 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

6 April 2017

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

6 April 2017

Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

6 April 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

7 April 2017

CALM3 mutation associated with long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Regulation of the NaV1.5 cytoplasmic domain by calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Novel Timothy syndrome mutation leading to increase in CACNA1C window current

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Calmodulin mutations associated with recurrent cardiac arrest in infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Inherited disorders of voltage-gated sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

It is calmodulin after all! Mediator of the calcium modulation of multiple ion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Multiple divergent mRNAs code for a single human calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

3 June 2018

Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907364

26 November 2018

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/26969752

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26969752

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCGENETICS.115.001323

1 reference

PubMed publication ID

4 April 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

PubMed publication ID

4 April 2017

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