(Q47118329)

8 January 2018

title

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation (English)

1 reference

8 January 2018

1 reference

Stefania Benonisdottir

6

Stefania Benonisdottir

1 reference

8 January 2018

Audur Magnusdottir

7

Audur Magnusdottir

1 reference

8 January 2018

Unnur Þorsteinsdóttir

16

Unnur Thorsteinsdottir

1 reference

8 January 2018

3

Patrick Sulem

1 reference

PMC publication ID

5704994

8 January 2018

Daníel F. Guðbjartsson

17

Daniel F Gudbjartsson

1 reference

8 January 2018

Kári Stefánsson

19

Kari Stefansson

1 reference

8 January 2018

Rosa Björk Thorolfsdottir

1

Rosa B Thorolfsdottir

1 reference

8 January 2018

Dan Roden

10

Dan M Roden

1 reference

8 January 2018

Hilma Holm

18

Hilma Holm

1 reference

8 January 2018

author name string

Gardar Sveinbjornsson

2

1 reference

8 January 2018

Anna Helgadottir

4

1 reference

8 January 2018

Solveig Gretarsdottir

5

1 reference

8 January 2018

Olafur B Davidsson

8

1 reference

8 January 2018

Sridharan Rajamani

9

1 reference

8 January 2018

Dawood Darbar

11

1 reference

8 January 2018

Terje R Pedersen

12

1 reference

8 January 2018

Marc S Sabatine

13

1 reference

8 January 2018

Ingileif Jonsdottir

14

1 reference

8 January 2018

David O Arnar

15

1 reference

8 January 2018

language of work or name

English

0 references

publication date

1 October 2017

1 reference

8 January 2018

Journal of the American College of Cardiology

published in

1 reference

8 January 2018

volume

70

1 reference

8 January 2018

issue

17

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8 January 2018

page(s)

2157-2168

1 reference

8 January 2018

Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

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A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation

23 May 2018

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23 May 2018

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Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

23 May 2018

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23 May 2018

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Weighting sequence variants based on their annotation increases power of whole-genome association studies

23 May 2018

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23 May 2018

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23 May 2018

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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

23 May 2018

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Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation

23 May 2018

1 reference

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Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation

23 May 2018

1 reference

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Emerging directions in the genetics of atrial fibrillation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

A common genetic variant within SCN10A modulates cardiac SCN5A expression

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve

23 May 2018

1 reference

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The Genotype-Tissue Expression (GTEx) project

23 May 2018

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Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Meta-analysis identifies six new susceptibility loci for atrial fibrillation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

PITX2 insufficiency leads to atrial electrical and structural remodeling linked to arrhythmogenesis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Modulation of conductive elements by Pitx2 and their impact on atrial arrhythmogenesis.

23 May 2018

1 reference

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A rare variant in MYH6 is associated with high risk of sick sinus syndrome

23 May 2018

1 reference

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Myasthenic syndrome caused by plectinopathy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

A method and server for predicting damaging missense mutations

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Common variants in KCNN3 are associated with lone atrial fibrillation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Genome-wide association study of PR interval

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Long-term outcomes in individuals with prolonged PR interval or first-degree atrioventricular block

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Variants conferring risk of atrial fibrillation on chromosome 4q25.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Distribution and intensity of constraint in mammalian genomic sequence

23 May 2018

1 reference

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Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

KCNQ1 gain-of-function mutation in familial atrial fibrillation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Impact of atrial fibrillation on the risk of death: the Framingham Heart Study

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Role of plectin in cytoskeleton organization and dynamics

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

EHRA/HRS/APHRS/SOLAECE expert consensus on atrial cardiomyopathies: definition, characterization, and clinical implication.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Sinus node dysfunction in atrial fibrillation patients: the evidence of regional atrial substrate remodelling

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

A population-based study of the long-term risks associated with atrial fibrillation: 20-year follow-up of the Renfrew/Paisley study.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Patterns of expression in the developing myocardium: towards a morphologically integrated transcriptional model

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

Several common variants modulate heart rate, PR interval and QRS duration

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5704994

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29050564

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29050564

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Atrial remodeling and atrial fibrillation: recent advances and translational perspectives

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29050564

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACC.2017.09.005

1 reference

8 January 2018

PMC publication ID

5704994

1 reference

8 January 2018

PubMed publication ID

29050564

1 reference

8 January 2018