(Q33903336)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Genotype-specific pathogenic effects in human dilated cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1

1 reference

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18 March 2020

Folkert Asselbergs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

José Renato Pinto

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Diederik W D Kuster

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Jolanda van der Velden

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

4

Aryan Vink

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

author name string

Maike Schuldt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Magdalena Harakalova

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Martina Krüger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

language of work or name

English

0 references

publication date

1 June 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

published in

Journal of Physiology

1 reference

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18 March 2020

volume

595

1 reference

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18 March 2020

issue

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

page(s)

4677-4693

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

18 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Interplay between the effects of a Protein Kinase C phosphomimic (T204E) and a dilated cardiomyopathy mutation (K211Δ or R206W) in rat cardiac troponin T blunts the magnitude of muscle length-mediated crossbridge recruitment against the β-myosin hea

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Length-dependent activation is modulated by cardiac troponin I bisphosphorylation at Ser23 and Ser24 but not by Thr143 phosphorylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Impact of site-specific phosphorylation of protein kinase A sites Ser23 and Ser24 of cardiac troponin I in human cardiomyocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Truncations of titin causing dilated cardiomyopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

PKC phosphorylation of titin's PEVK element: a novel and conserved pathway for modulating myocardial stiffness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Myofilament incorporation determines the stoichiometry of troponin I in transgenic expression and the rescue of a null mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Passive stiffness changes caused by upregulation of compliant titin isoforms in human dilated cardiomyopathy hearts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Altered titin expression, myocardial stiffness, and left ventricular function in patients with dilated cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

The crystal structure of the C-terminal fragment of striated-muscle alpha-tropomyosin reveals a key troponin T recognition site

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Cardiac troponin I gene knockout: a mouse model of myocardial troponin I deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Calcium-induced structural transition in the regulatory domain of human cardiac troponin C

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Mechanisms of beta adrenoceptor desensitisation in the failing human heart

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

5 July 2018

1 reference

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy

21 January 2018

1 reference

Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation

21 January 2018

1 reference

Depressed Frank-Starling mechanism in the left ventricular muscle of the knock-in mouse model of dilated cardiomyopathy with troponin T deletion mutation ΔK210.

21 January 2018

1 reference

Troponin I in the murine myocardium: influence on length-dependent activation and interfilament spacing

21 January 2018

1 reference

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.

21 January 2018

1 reference

Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts.

21 January 2018

1 reference

Sexual dimorphic response to exercise in hypertrophic cardiomyopathy-associated MYBPC3-targeted knock-in mice.

21 January 2018

1 reference

Differential impact of mechanical unloading on structural and nonstructural components of the extracellular matrix in advanced human heart failure.

21 January 2018

1 reference

Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins

21 January 2018

1 reference

Titin-Based Cardiac Myocyte Stiffening Contributes to Early Adaptive Ventricular Remodeling After Myocardial Infarction.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509872

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

29 October 2018

1 reference

Effect of protein kinase A on calcium sensitivity of force and its sarcomere length dependence in human cardiomyocytes

21 January 2018

1 reference

Quantitative analysis of myofilament protein phosphorylation in small cardiac biopsies

21 January 2018

1 reference

The effect of partial removal of troponin I and C on the Ca(2+)-sensitive ATPase activity of rabbit skeletal myofibrils

21 January 2018

1 reference

12 December 2020

Different functional properties of troponin T mutants that cause dilated cardiomyopathy

1 reference

12 December 2020

Functional analysis of troponin I regulatory domains in the intact myofilament of adult single cardiac myocytes

1 reference

12 December 2020

Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I

1 reference

12 December 2020

Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation

1 reference

12 December 2020

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

1 reference

12 December 2020

Progressive troponin I loss impairs cardiac relaxation and causes heart failure in mice

1 reference

12 December 2020

Chymotryptic subfragments of troponin T from rabbit skeletal muscle. Interaction with tropomyosin, troponin I and troponin C

1 reference

12 December 2020

The effect of regulatory Ca2+ on the in situ structures of troponin C and troponin I: a neutron scattering study

1 reference

12 December 2020

Identifiers

DOI

10.1113/JP274145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28436080%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference