Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I
Authors
Keywords
-
Journal
Open Biology
Volume 6, Issue 9, Pages 160114
Publisher
The Royal Society
Online
2016-09-28
DOI
10.1098/rsob.160114
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Structural advances on titin: towards an atomic understanding of multi-domain functions in myofilament mechanics and scaffolding
- (2015) T. Zacharchenko et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
- (2015) J. T. Hinson et al. SCIENCE
- Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
- (2015) Angharad M. Roberts et al. Science Translational Medicine
- A Rising Titan:TTNReview and Mutation Update
- (2014) Claire Chauveau et al. HUMAN MUTATION
- Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins
- (2014) Sebastian Kötter et al. JOURNAL OF CELL BIOLOGY
- Deleting titin’s I-band/A-band junction reveals critical roles for titin in biomechanical sensing and cardiac function
- (2014) Henk L. Granzier et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structural and sequence features of two residue turns in beta-hairpins
- (2014) Bharat Madan et al. PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
- Titin Mutation in Familial Restrictive Cardiomyopathy
- (2013) Yael Peled et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Single Molecule Force Spectroscopy on Titin Implicates Immunoglobulin Domain Stability as a Cardiac Disease Mechanism
- (2013) Brian R. Anderson et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
- (2012) Alexander G. Bick et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era
- (2012) Nadine Norton et al. Circulation-Cardiovascular Genetics
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- The intracellular Ig fold: a robust protein scaffold for the engineering of molecular recognition
- (2012) M. Bruning et al. PROTEIN ENGINEERING DESIGN & SELECTION
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
- (2012) A. Keinan et al. SCIENCE
- Mouse Models in Arrhythmogenic Right Ventricular Cardiomyopathy
- (2012) Elisabeth M. Lodder et al. Frontiers in Physiology
- A graphical interface for the FoldX forcefield
- (2011) J. Van Durme et al. BIOINFORMATICS
- Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes
- (2011) Matthew Taylor et al. CIRCULATION
- MSDmotif: exploring protein sites and motifs
- (2008) Adel Golovin et al. BMC BIOINFORMATICS
- A regular pattern of Ig super-motifs defines segmental flexibility as the elastic mechanism of the titin chain
- (2008) E. von Castelmur et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now