Making sense of missense variants in TTN-related congenital myopathies

Titin Truncating Variants in Adults Without Known Congestive Heart Failure

(2020) James P. Pirruccello et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

(2019) Johanna Palmio et al.   JOURNAL OF NEUROLOGY

The Giant Protein Titin’s Role in Cardiomyopathy: Genetic, Transcriptional, and Post-translational Modifications of TTN and Their Contribution to Cardiac Disease

(2019) Charles A. Tharp et al.   Frontiers in Physiology

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

(2018) Emily C. Oates et al.   ANNALS OF NEUROLOGY

Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance

(2018) Nejat Mahdieh et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Disulfide isomerization reactions in titin immunoglobulin domains enable a mode of protein elasticity

(2018) David Giganti et al.   Nature Communications

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Role of titin in cardiomyopathy: from DNA variants to patient stratification

(2017) James S. Ware et al.   Nature Reviews Cardiology

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE

(2016) Robert Hastings et al.   Circulation-Cardiovascular Genetics

The sarcomeric cytoskeleton: from molecules to motion

(2016) Mathias Gautel et al.   JOURNAL OF EXPERIMENTAL BIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Titin-truncating variants affect heart function in disease cohorts and the general population

(2016) Sebastian Schafer et al.   NATURE GENETICS

Cardiac involvement in hereditary myopathy with early respiratory failure

(2016) Hannah E. Steele et al.   NEUROLOGY

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

(2016)   NEW ENGLAND JOURNAL OF MEDICINE

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

(2016) James S. Ware et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE

(2016) Robert Hastings et al.   Circulation-Cardiovascular Genetics

The Crystal Structure of the Human Titin:Obscurin Complex Reveals a Conserved yet Specific Muscle M-Band Zipper Module

(2015) Stefano Pernigo et al.   JOURNAL OF MOLECULAR BIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

A new titinopathy

(2015) Rafael De Cid et al.   NEUROLOGY

Biophysical characterization of naturally occurring titin M10 mutations

(2015) Michael W. Rudloff et al.   PROTEIN SCIENCE

Role of Titin Missense Variants in Dilated Cardiomyopathy

(2015) R. L. Begay et al.   Journal of the American Heart Association

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2014) Stephan Lange et al.   BRAIN

A Rising Titan:TTNReview and Mutation Update

(2014) Claire Chauveau et al.   HUMAN MUTATION

Diagnosis of muscle diseases presenting with early respiratory failure

(2014) Gerald Pfeffer et al.   JOURNAL OF NEUROLOGY

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain

(2014) Carola Hedberg et al.   NEUROMUSCULAR DISORDERS

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2013) Carola Hedberg et al.   BRAIN

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

(2013) C. Chauveau et al.   HUMAN MOLECULAR GENETICS

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

(2013) Luis R Lopes et al.   JOURNAL OF MEDICAL GENETICS

Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare

(2013) A. Uruha et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary myopathy with early respiratory failure: occurrence in various populations

(2013) J. Palmio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

(2013) G. Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

(2011) Andrea Klein   ARCHIVES OF NEUROLOGY

The Giant Protein Titin: A Regulatory Node That Integrates Myocyte Signaling Pathways

(2011) Martina Krüger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

(2010) S. Pernigo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band - implications for hereditary myopathies

(2008) A. Fukuzawa et al.   JOURNAL OF CELL SCIENCE