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. (Q34321612)

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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

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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)

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21 February 2020

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dilated cardiomyopathy

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21 February 2020

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21 February 2020

Michael Simpson

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21 February 2020

Miguel A Esteban

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Miguel A Esteban

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21 February 2020

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Jenny C Y Ho

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21 February 2020

Yee-Ki Lee

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21 February 2020

Amy W Butler

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21 February 2020

Kwong-Man Ng

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21 February 2020

Chung-Wah Siu

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21 February 2020

Wing-Hon Lai

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21 February 2020

Yau-Chi Chan

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21 February 2020

Ka-Wing Au

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21 February 2020

Jinqiu Zhang

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21 February 2020

Kenneth W J Lay

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21 February 2020

John M Nicholls

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21 February 2020

Alan Colman

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21 February 2020

Pak C Sham

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21 February 2020

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8 January 2013

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21 February 2020

Human Molecular Genetics

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21 February 2020

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21 February 2020

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21 February 2020

1395-1403

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21 February 2020

Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Desmin-related cardiomyopathy: an unfolding story

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21 January 2018

Exome sequencing as a tool for Mendelian disease gene discovery

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Molecular basis of AMP deaminase deficiency in skeletal muscle

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Generation of induced pluripotent stem cells from urine

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21 January 2018

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

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21 January 2018

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

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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

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

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21 January 2018

A dysfunctional desmin mutation in a patient with severe generalized myopathy

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