(Q33164413)

23 July 2017

title

Novel calmodulin mutations associated with congenital arrhythmia susceptibility (English)

1 reference

23 July 2017

0 references

0 references

32

1 reference

23 July 2017

Lia Crotti

3

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Toshihiro Tanaka

Toshihiro Tanaka

30

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Pascale Guicheney

Pascale Guicheney

34

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Peter J. Schwartz

Peter J Schwartz

31

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Taisuke Ishikawa

Taisuke Ishikawa

9

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Kouichi Ozaki

Kouichi Ozaki

27

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Elijah Behr

Elijah R Behr

12

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Peter Lichtner

8

Peter Lichtner

1 reference

23 July 2017

5

Britt-Maria Beckmann

1 reference

23 July 2017

15

Elisa Mastantuono

1 reference

23 July 2017

17

Tatsuhiko Tsunoda

1 reference

23 July 2017

33

Stefan Kääb

1 reference

23 July 2017

20

Hidewaki Nakagawa

1 reference

23 July 2017

Naomasa Makita

1

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23 July 2017

Nobue Yagihara

2

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23 July 2017

Christopher N Johnson

4

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23 July 2017

Michelle S Roh

6

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23 July 2017

Daichi Shigemizu

7

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23 July 2017

Takeshi Aiba

10

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23 July 2017

Tessa Homfray

11

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23 July 2017

Didier Klug

13

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23 July 2017

Isabelle Denjoy

14

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23 July 2017

Daniel Theisen

16

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23 July 2017

Wataru Satake

18

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23 July 2017

Tatsushi Toda

19

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23 July 2017

Yukiomi Tsuji

21

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23 July 2017

Takeshi Tsuchiya

22

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23 July 2017

Hirokazu Yamamoto

23

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23 July 2017

Yoshihiro Miyamoto

24

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23 July 2017

Naoto Endo

25

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23 July 2017

Akinori Kimura

26

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23 July 2017

Hideki Motomura

28

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23 July 2017

Kenji Suda

29

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23 July 2017

Wataru Shimizu

35

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23 July 2017

Zahurul A Bhuiyan

36

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23 July 2017

Hiroshi Watanabe

37

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23 July 2017

Walter J Chazin

38

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23 July 2017

Alfred L George

39

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23 July 2017

publication date

10 June 2014

1 reference

Circulation: Cardiovascular Genetics

23 July 2017

published in

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23 July 2017

volume

7

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23 July 2017

issue

4

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23 July 2017

page(s)

466-474

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Impact of genetics on the clinical management of channelopathies

23 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Calmodulin mutations associated with recurrent cardiac arrest in infants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Molecular and genetic basis of sudden cardiac death

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

An integrated map of genetic variation from 1,092 human genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

MutationTaster evaluates disease-causing potential of sequence alterations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Designing sequence to control protein function in an EF-hand protein.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Calcium binding to calmodulin mutants monitored by domain-specific intrinsic phenylalanine and tyrosine fluorescence.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Phenylalanine fluorescence studies of calcium binding to N-domain fragments of Paramecium calmodulin mutants show increased calcium affinity correlates with increased disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Interactions between domains of apo calmodulin alter calcium binding and stability.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Calcium-induced interactions of calmodulin domains revealed by quantitative thrombin footprinting of Arg37 and Arg106.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Multiple divergent mRNAs code for a single human calmodulin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Crystal structures of the helix-loop-helix calcium-binding proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Calmodulin structure refined at 1.7 A resolution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

A practical method to detect SNVs and indels from whole genome and exome sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Long-QT syndrome: from genetics to management

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Molecular Basis of Calmodulin Binding to Cardiac Muscle Ca2+ Release Channel (Ryanodine Receptor)

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Conservative D133E mutation of calmodulin site IV drastically alters calcium binding and phosphodiesterase regulation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

High Efficacy of β-Blockers in Long-QT Syndrome Type 1

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4140998

Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24917665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT Syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24917665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24917665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1161/CIRCGENETICS.113.000459

1 reference

23 July 2017

1 reference

23 July 2017

1 reference