Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect
Authors
Keywords
-
Journal
Genes
Volume 10, Issue 11, Pages 918
Publisher
MDPI AG
Online
2019-11-12
DOI
10.3390/genes10110918
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Non‐compaction cardiomyopathy is caused by a novel in‐frame desmin ( DES ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect
- (2019) Andrey V Marakhonov et al. HUMAN MUTATION
- In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns
- (2019) Jana Davina Debus et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Acid Sensitive Ion channels are expressed in human induced pluripotent stem cell-derived cardiomyocytes
- (2019) Xiao-hua Zhang et al. STEM CELLS AND DEVELOPMENT
- Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers
- (2019) Niraja Kedia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The novel αB-crystallin (CRYAB ) mutation p.D109G causes restrictive cardiomyopathy
- (2017) Andreas Brodehl et al. HUMAN MUTATION
- Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy
- (2017) Haruhito Harada et al. JOURNAL OF HUMAN GENETICS
- Kardiomiopatia restrykcyjna — nowa mutacja desminy
- (2017) Natalia Ojrzyńska et al. Kardiologia Polska
- A novel desmin (DES ) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy
- (2017) Ilona Schirmer et al. Molecular Genetics & Genomic Medicine
- Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
- (2017) Francisco José Bermúdez-Jiménez et al. CIRCULATION
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy
- (2016) Andreas Brodehl et al. HUMAN MUTATION
- Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect
- (2016) Andreas Brodehl et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Desmin, desminopathy and the complexity of genetics
- (2016) Valerio Azzimato et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Intermediate Filaments: Structure and Assembly
- (2016) Harald Herrmann et al. Cold Spring Harbor Perspectives in Biology
- Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing
- (2016) Anna Kostareva et al. PLoS One
- Intermediate filament mechanics in vitro and in the cell: from coiled coils to filaments, fibers and networks
- (2015) Sarah Köster et al. CURRENT OPINION IN CELL BIOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Titin Mutation in Familial Restrictive Cardiomyopathy
- (2013) Yael Peled et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- World Medical Association Declaration of Helsinki
- (2013) JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy
- (2013) A. Maerkens et al. Journal of Proteomics
- Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants
- (2012) Andreas Brodehl et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Diagnostic Challenge in Desmin Cardiomyopathy With Transformation of Clinical Phenotypes
- (2012) Alexandra Gudkova et al. PEDIATRIC CARDIOLOGY
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Atomic structure of the vimentin central -helical domain and its implications for intermediate filament assembly
- (2012) A. A. Chernyatina et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
- (2010) Baerbel Klauke et al. HUMAN MOLECULAR GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
- (2009) Gerard Piñol-Ripoll et al. NEUROMUSCULAR DISORDERS
- mRuby, a Bright Monomeric Red Fluorescent Protein for Labeling of Subcellular Structures
- (2009) Simone Kredel et al. PLoS One
- Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
- (2008) J P Kaski et al. HEART
- Severe Myopathy Mutations Modify the Nanomechanics of Desmin Intermediate Filaments
- (2008) L. Kreplak et al. JOURNAL OF MOLECULAR BIOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now