(Q30833466)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Titin-truncating variants affect heart function in disease cohorts and the general population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

Collaborative Research Centre (CRC) 1002: "Modulatory Units in Heart Failure"

27 March 2020

sponsor

0 references

author

Sebastiaan van Heesch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Sebastian Schäfer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Antonio de Marvao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Eleonora Adami

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Benjamin Ng

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Owen Rackham

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Roddy Walsh

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Upasana Tayal

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Calvin Chin

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Francesco Mazzarotto

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Paul J Barton

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Allison Sarkis

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Wolfgang A Linke

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Declan P O'Regan

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

James Ware

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

31

Christine E Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

26

Daniel Rueckert

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

14

Timothy J W Dawes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

13

Sanjay K Prasad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

30

Jonathan G Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

36

Norbert Hubner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Lorna R Fiedler

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ester Khin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Chee J Pua

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Miao Kui

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Nicole S J Ko

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

David Sim

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Laura L H Chan

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Franziska Kreuchwig

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Dominique P V de Kleijn

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Teresa Totman

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Carlo Biffi

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Nicole Tee

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Valentin Schneider

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jean-Paul Kovalik

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Stuart A Cook

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Vera Regitz-Zagrosek

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

language of work or name

English

0 references

publication date

21 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

46-53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

27 March 2020

RStudio

1 reference

18 June 2022

https://europepmc.org/article/PMC/5201198

inferred from PubMed Central ID database lookup

cites work

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Titin strain contributes to the Frank-Starling law of the heart by structural rearrangements of both thin- and thick-filament proteins

21 June 2018

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21 June 2018

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Prevalence of Titin Truncating Variants in General Population

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Truncations of titin causing dilated cardiomyopathy.

21 June 2018

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Cardiovascular magnetic resonance imaging in experimental models

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

MTORC1 regulates cardiac function and myocyte survival through 4E-BP1 inhibition in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Design and validation of Segment--freely available software for cardiovascular image analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

GAGE: generally applicable gene set enrichment for pathway analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Genome-wide association study identifies eight loci associated with blood pressure

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Genome-wide association study of blood pressure and hypertension

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

21 June 2018

1 reference

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Genome-wide analysis in vivo of translation with nucleotide resolution using ribosome profiling

21 June 2018

1 reference

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The failing heart--an engine out of fuel

21 June 2018

1 reference

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Galaxy: a platform for interactive large-scale genome analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Myocardial substrate metabolism in the normal and failing heart

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Serial MRI evaluation of cardiac structure and function in mice after reperfused myocardial infarction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Comparison of interstudy reproducibility of cardiovascular magnetic resonance with two-dimensional echocardiography in normal subjects and in patients with heart failure or left ventricular hypertrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

The isolated blood and perfusion fluid perfused heart

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

KEGG: kyoto encyclopedia of genes and genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Left ventricular dilatation and the risk of congestive heart failure in people without myocardial infarction.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5201198

Relevance of truncating titin mutations in dilated cardiomyopathy.

21 June 2018

1 reference

Chronic activation of mTOR complex 1 by branched chain amino acids and organ hypertrophy.

21 January 2018

1 reference

Cardiac raptor ablation impairs adaptive hypertrophy, alters metabolic gene expression, and causes heart failure in mice.

21 January 2018

1 reference

Tackling the achilles' heel of genetic testing.

21 January 2018

1 reference

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

21 January 2018

1 reference

Simultaneous determination of anionic intermediates for Bacillus subtilis metabolic pathways by capillary electrophoresis electrospray ionization mass spectrometry

21 January 2018

1 reference

Threshold-free cluster enhancement: addressing problems of smoothing, threshold dependence and localisation in cluster inference.

21 January 2018

1 reference

Amino acid analysis by capillary electrophoresis electrospray ionization mass spectrometry

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27869827

12 December 2020

inferred from PubMed ID database lookup

Quantification of right and left ventricular function by cardiovascular magnetic resonance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27869827

12 December 2020

inferred from PubMed ID database lookup

Quantification of left ventricular volumes by two-dimensional echocardiography: a simplified and accurate approach

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27869827

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.3719

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27869827%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference