Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. (Q36796408)

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1 April 2020

title

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy (English)

1 reference

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1 April 2020

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2

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Masayuki Nakamori

6

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1 April 2020

Christelle Thibault

10

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Karim Wahbi

17

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Hideki Mochizuki

20

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Emilie Chautard

28

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Didier Auboeuf

29

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Maurice S. Swanson

33

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Adolfo López de Munain

34

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Denis Furling

41

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Nicolas Charlet

43

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author name string

Fernande Freyermuth

1

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Yosuke Kokunai

3

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Thomas Linke

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Chantal Sellier

5

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Yoshihiro Kino

7

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Ludovic Arandel

8

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Arnaud Jollet

9

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Muriel Philipps

11

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Serge Vicaire

12

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Bernard Jost

13

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Bjarne Udd

14

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John W Day

15

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Denis Duboc

16

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Tsuyoshi Matsumura

18

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Harutoshi Fujimura

19

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François Deryckere

21

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Takashi Kimura

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Nobuyuki Nukina

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Shoichi Ishiura

24

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Vincent Lacroix

25

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Amandine Campan-Fournier

26

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Vincent Navratil

27

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Minoru Horie

30

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Keiji Imoto

31

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Kuang-Yung Lee

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Shin Inada

35

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Hideki Itoh

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Kazuo Nakazawa

37

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Takashi Ashihara

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Eric Wang

39

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Thomas Zimmer

40

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Masanori P Takahashi

42

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language of work or name

English

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publication date

11 April 2016

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published in

Nature Communications

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volume

7

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page(s)

11067

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Creative Commons Attribution 4.0 International

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copyright license

start time

1 April 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageQuant

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11 June 2022

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inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms11067

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

29 September 2017

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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

29 September 2017

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29 September 2017

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Impaired impulse propagation in Scn5a-knockout mice: combined contribution of excitability, connexin expression, and tissue architecture in relation to aging

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

29 September 2017

1 reference

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Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

A muscleblind knockout model for myotonic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

A sodium-channel mutation causes isolated cardiac conduction disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Cardiac conduction defects associate with mutations in SCN5A

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

One-dimensional mathematical model of the atrioventricular node including atrio-nodal, nodal, and nodal-his cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

A cautionary tale: the risks of flecainide treatment for myotonic dystrophy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831019

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

5 September 2018

1 reference

12 December 2020

Arrhythmia exacerbation after sodium channel blockade in myotonic dystrophy type 1

1 reference

12 December 2020

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

1 reference

12 December 2020

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

1 reference

12 December 2020

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

1 reference

12 December 2020

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1

1 reference

12 December 2020

Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

1 reference

12 December 2020

Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1

1 reference

12 December 2020

Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome

1 reference

12 December 2020

Unmasked Brugada pattern by ajmaline challenge in patients with myotonic dystrophy type 1

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS11067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27063795%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27063795%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27063795%20AND%20SRC:MED&resulttype=core&format=json