(Q34254460)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Truncations of titin causing dilated cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Debbie Lin Teodorescu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Gianfranco Sinagra

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Carolyn Ho

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Paul J Barton

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Luisa Mestroni

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

14

Dudley J Pennell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

9

Barbara McDonough

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

28

J G Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

29

Christine E Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

20

Michael J Ackerman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

8

Steven R DePalma

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Danos C Christodoulou

6

object named as

Danos Christodoulou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1

Daniel S Herman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

7

Lauren Conner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

12

Allison L Cirino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

15

Sharon Graw

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

23

Neal K Lakdawala

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Lien Lam

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Matthew R G Taylor

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Libin Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Elizabeth Sparks

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Nicholas R Banner

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Marco Merlo

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Andrea Di Lenarda

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

J Martijn Bos

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Richard N Mitchell

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Charles E Murry

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Stuart A Cook

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

language of work or name

English

0 references

publication date

1 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

The New England Journal of Medicine

23 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

366

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

page(s)

619-628

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

Construction of normalized RNA-seq libraries for next-generation sequencing using the crab duplex-specific nuclease

23 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=3660031

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

A novel custom resequencing array for dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Titin diversity--alternative splicing gone wild

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

The genetics of dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Muscle giants: molecular scaffolds in sarcomerogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Accurate whole human genome sequencing using reversible terminator chemistry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Shared genetic causes of cardiac hypertrophy in children and adults

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Cardiac hypertrophy and reduced contractility in hearts deficient in the titin kinase region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Targeted homozygous deletion of M-band titin in cardiomyocytes prevents sarcomere formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

The genetic basis for cardiac remodeling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

The kinase domain of titin controls muscle gene expression and protein turnover

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Mechanically induced titin kinase activation studied by force-probe molecular dynamics simulations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

The giant protein titin: a major player in myocardial mechanics, signaling, and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

A functional knock-out of titin results in defective myofibril assembly.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Familial dilated cardiomyopathy locus maps to chromosome 2q31.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Passive tension in cardiac muscle: contribution of collagen, titin, microtubules, and intermediate filaments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Purification and properties of native titin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

A physiological role for titin and nebulin in skeletal muscle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Muscle ring finger 1, but not muscle ring finger 2, regulates cardiac hypertrophy in vivo

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Titin and the sarcomere symmetry paradox.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Structural and functional studies of titin’s fn3 modules reveal conserved surface patterns and binding to myosin S1 - a possible role in the frank-starling mechanism of the heart

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Idiopathic Dilated Cardiomyopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660031

Predictors of mortality in patients with heart failure and preserved systolic function in the Digitalis Investigation Group trial

28 October 2018

1 reference

12 December 2020

Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes

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

Familial dilated cardiomyopathy

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA1110186

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22335739%20AND%20SRC:MED&resulttype=core&format=json