(Q36452297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

alternative mRNA splicing, via spliceosome

14 January 2020

main subject

1 reference

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Barry London

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

2

Steven A Lubitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

16

Patrick T Ellinor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

3

Seiko Makino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Marwan M Refaat

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Zahid Islam

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

J Michael Frangiskakis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Haider Mehdi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Rebecca Gutmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Michael L Zhang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Heather L Bloom

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Calum A MacRae

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Alaa A Shalaby

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Raul Weiss

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Dennis M McNamara

14

1 reference

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14 January 2020

publication date

17 October 2011

1 reference

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14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

9

1 reference

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14 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

390-396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

A map of human genome variation from population-scale sequencing

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Statins Decrease Oxidative Stress and ICD Therapies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Alternative isoform regulation in human tissue transcriptomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Mutations of presenilin genes in dilated cardiomyopathy and heart failure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Clinical and genetic issues in familial dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Genetic causes of human heart failure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Progression of familial and non-familial dilated cardiomyopathy: long term follow up.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

dbSNP: the NCBI database of genetic variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Familial dilated cardiomyopathy in the United Kingdom

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

The natural history of idiopathic dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

The clinical course of idiopathic dilated cardiomyopathy. A population-based study

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

A missense mutation in the CHRM2 gene is associated with familial dilated cardiomyopathy

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Genome-wide analysis of transcript isoform variation in humans

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Frequency and phenotypes of familial dilated cardiomyopathy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

A Novel Locus for Dilated Cardiomyopathy, Diffuse Myocardial Fibrosis, and Sudden Death on Chromosome 10q25-26

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516872

Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984

4 December 2018

1 reference

12 December 2020

Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease

1 reference

12 December 2020

A family with cardiomyopathy

1 reference

12 December 2020

FAMILIAL CARDIOMYOPATHIES

1 reference

12 December 2020

10.1016/J.HRTHM.2011.10.016

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

release_puh3xc6cpnajvbvhje5jd37mgq

14 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/puh3xc6cpnajvbvhje5jd37mgq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22004663%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

22004663

1 reference