A cardiac arrhythmia syndrome caused by loss of ankyrin-B function (Q24295030)

GOA release 2020-03-11

Ankyrin 2, brain

1 reference

GOA release 2020-03-11

Katherine Timothy

6

Katherine

Timothy

1 reference

19 October 2023

9

Vann Bennett

Vann

Bennett

1 reference

19 October 2023

Peter J Mohler

1

Peter J

Mohler

1 reference

19 October 2023

Igor Splawski

2

Igor

Splawski

1 reference

19 October 2023

Carlo Napolitano

3

Carlo

Napolitano

1 reference

19 October 2023

Georgia Bottelli

4

Georgia

Bottelli

1 reference

19 October 2023

Leah Sharpe

5

Leah

Sharpe

1 reference

19 October 2023

Silvia G Priori

7

Silvia G

Priori

1 reference

19 October 2023

Mark T Keating

8

Mark T

Proceedings of the National Academy of Sciences of the United States of America

Keating

1 reference

19 October 2023

language of work or name

English

0 references

publication date

15 June 2004

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published in

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volume

101

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page(s)

9137-42

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issue

24

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cites work

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia 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=428486

Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

AnkyrinG is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Mapping of a gene for long QT syndrome to chromosome 4q25-27

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras in rescue of abnormal inositol 1,4,5-trisphosphate and ryanodine receptor distribution in ankyrin-B (-/-) neonatal cardiomyocytes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Inherited arrhythmia syndromes: applying the molecular biology and genetic to the clinical management.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Identification of a Conserved Ankyrin-binding Motif in the Family of Sodium Channel α Subunits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Molecular biology and the prolonged QT syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

The long QT syndromes: genetic basis and clinical implications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Ankyrin-B is required for intracellular sorting of structurally diverse Ca2+ homeostasis proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=428486

Molecular basis of the long-QT syndrome associated with deafness.

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0402546101

A targeting motif involved in sodium channel clustering at the axonal initial segment.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0402546101

Abnormal cardiac Na(+) channel properties and QT heart rate adaptation in neonatal ankyrin(B) knockout mice.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0402546101

Regulatory domains of erythrocyte ankyrin

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15178757

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ankyrin regulation: an alternatively spliced segment of the regulatory domain functions as an intramolecular modulator

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15178757

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0402546101

1 reference

release_ulf26xrcvzakniwqmoliwp5l2i

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0 references

2556751

1 reference

1 reference

1 reference