(Q34321612)

English

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

based on heuristic

inferred from title

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Michael Simpson

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Miguel A Esteban

14

object named as

Miguel A Esteban

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Jenny C Y Ho

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yee-Ki Lee

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Amy W Butler

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kwong-Man Ng

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Chung-Wah Siu

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Wing-Hon Lai

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yau-Chi Chan

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Ka-Wing Au

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Jinqiu Zhang

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kenneth W J Lay

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

John M Nicholls

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Alan Colman

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Pak C Sham

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

publication date

8 January 2013

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1395-1403

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23300193%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Desmin-related cardiomyopathy: an unfolding story

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Molecular basis of AMP deaminase deficiency in skeletal muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Colocalization of nestin and vimentin/desmin in skeletal muscle cells demonstrated by three-dimensional fluorescence digital imaging microscopy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

ROCK inhibition facilitates the generation of human-induced pluripotent stem cells in a defined, feeder-, and serum-free system.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Generation of induced pluripotent stem cells from urine

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Myofibrillar myopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

BEDTools: a flexible suite of utilities for comparing genomic features

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Clustal W and Clustal X version 2.0

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

UniProt Knowledgebase: a hub of integrated protein data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS556

21 January 2018

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34321612&oldid=1643859599"