Titin
 

• Generation of a hiPSC line ZZUNEUi017-A from a patient with dilated cardiomyopathy caused by mutation in TTN, Huang, 2021

• Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing, McDermott, 2021

• A heterozygous TTN (c. 79,684C>T) mutant human induced pluripotent stem cell line (ZZUNEUi023-A) generated from a Kazakh patient with dilated cardiomyopathy, Li

• A novel TTN variant in a patient with distal myopathy of lower limbs and dilated cardiomyopathy, Lopez-Bravo, 2021

• Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations, Fomin, 2021

• Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family, Mahdavi, 2021

• Intraventricular Septation in the Context of Dilated Cardiomyopathy Associated With TTN Mutation, Khandalavala, 2021

• Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease, Brown, 2021

• Titin (TTN): from molecule to modifications, mechanics and medical significance, Loescher, 2021

• The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies, Perrin, 2021

• Clinicopathological features of titinopathy from a Chinese neuromuscular center, Huang, 2021

• Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification, Valverde-Gómez , 2021

• Single-Molecule Force Spectroscopy Studies of Missense Titin Mutations That Are Likely Causing Cardiomyopathy, Zuo, 2021

• Novel dominant distal titinopathy phenotype associated with copy number variation, Perrin, 2021

• Why exercise builds muscles: titin mechanosensing controls skeletal muscle growth under load, Ibata, 2021

• Novel dominant distal titinopathy phenotype associated with copy number variation, Perrin, 2021

• Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing, McDermott, 2021

• Titin N2A Domain and Its Interactions at the Sarcomere, Adewale, 2021

• Prevalence and evolution of right ventricular dysfunction among different genetic backgrounds in dilated cardiomyopathy, Manca, 2021   

• A novel TTN variant in a patient with distal myopathy of lower limbs and dilated cardiomyopathy, Lopez-Bravo, 2021

• Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients With Sporadic Dilated Cardiomyopathy, Xiao, 2021

• Interaction of chloramphenicol with titin I27 probed using single-molecule force spectroscopy, Yadav, 2021

• Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification, Valerde, 2021

• Genotype phenotype analysis in a family carrying truncating mutations in the titin gene. Peddareddygari, 2021

• Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family, Chen, 2021

• The GSK-3β-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function, Wirianto, 2021

• Molecular characterisation of titin N2A and its binding of CARP reveals a titin/actin cross-linking mechanism, Zhou, 2021

• Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant, Jiang, 2021

• Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy, Bryen, 2020

• Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy, Rich, 2020

• The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?, Udd, 2020

• Genetic Dilated Cardiomyopathy Due to TTN Variants without Known Familial Disease, Brown, 2020

• Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation, Goodyear, 2020

• Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy, Rich, 2020

• Making sense of missense variants in TTN-related congenital myopathies, Rees, 2020

• Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis, Fang, 2020

• THE INTERPLAY BETWEEN TITIN, POLYGENIC RISK AND MODIFIABLE CARDIOVASCULAR RISK FACTORS IN ATRIAL FIBRILLATION, Huang, 2020

• Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy, Anderson, 2020

• Inhibition of Histone Deacetylases 4 and 5 Reduces Titin Proteolysis and Prevents Reduction of TTN Gene Expression in Atrophied Rat Soleus Muscle after Seven-Day Hindlimb Unloading, Gritsyna , 2020

• Amino Acid-level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally-identified TTN-Encoded Titin Truncating Variants, Connell, 2020

• Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study, Zaklyazminskaya, 2020

• Titin-Truncating Mutations Associated With Dilated Cardiomyopathy Alter Length-Dependent Activation And Its Modulation Via Phosphorylation, Vikhorev, 2020

• Upregulation of Yy1 Suppresses Dilated Cardiomyopathy caused by Ttn insufficiency, Liao, 2020

• The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies, Perrin, 2020

• Discovery of TITIN Gene Truncating Variant Mutations and 5-year Outcomes in Patients with Non-Ischemic Dilated Cardiomyopathy, Anderson, 2020

• Titinopathy, an atypical respiratory failure, Morais, 2020

• Regulation of titin-based cardiac stiffness by unfolded domain oxidation (UnDOx), Loescher, 2020

• Maintenance of sarcomeric integrity in adult muscle cells crucially depends on Z-disc anchored titin, Swist, 2020

• Modifications of Titin Contribute to the Progression of Cardiomyopathy and Represent a Therapeutic Target for Treatment of Heart Failure, Tharp, 2020

• Genotype-phenotype correlations in recessive titinopathies, Savarese, 2020

• Identification of a Novel titin-cap/telethonin Mutation in a Portuguese Family With Hypertrophic Cardiomyopathy, Toste, 2020

• N2A Titin: Signaling Hub and Mechanical Switch in Skeletal Muscle, Nishikawa-2020

• Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement, Ge,  2020

• Prognostic implications of pathogenic truncating variants in the TTN gene, Pena, 2020

• Titin: A Tunable Spring in Active Muscle, Nishikawa, 2020

• Deleting Titin's C-Terminal PEVK Exons Increases Passive Stiffness, Alters Splicing, and Induces Cross-Sectional and

• A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

• Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10, Khan, 2019

• A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy, Roggenbuck, 2019

• Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset, Goodyer, 2019

• Atrial Fibrillation

• Stretching Single Titin Molecules from Failing Human Hearts Reveals Titin's Role in Blunting Cardiac Kinetic Reserve,  Chen 2019

• Structural diversity in the atomic resolution 3D fingerprint of the titin M-band segment, Chatziefthimiou, 2019

• The Giant Protein Titin's Role in Cardiomyopathy: Genetic, Transcriptional, and Post-translational Modifications of TTN and Their Contribution to Cardiac Disease, Tharp, 2019

• Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study, Zaklyazminskaya, 2019

• Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker, Misaka, 2019

• Homozygous missense variant in the TTN gene causing autosomal recessive limbgirdle muscular dystrophy type 10,  Khan, 2019

• Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge, Bonnemann

• Engineering protein polymers of ultrahigh molecular weight via supramolecular polymerization: towards mimicking the giant muscle protein titin, Want, 2019

• Novel missense variant in TTN cosegregating with familial atrioventricular block, Liu, 2019

• End-diastolic force pre-activates cardiomyocytes and determines contractile force; role of titin and calcium, Najafi, 2019

• Novel TTN mutations and muscle imaging characteristics in congenital titinopathy, Yu, 2019

• Two novel mutations in TTN of a patient with congenital myopathy: A case report, Jang, 2019

• Association of Titin-Truncating Genetic Variants With Life threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators, Corden, 2019

• A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging, Algahtani, 2019

• Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis, Fang, 2019

• Fine mapping titin's C-zone: Matching cardiac myosin-binding protein C stripes with titin's super-repeats, Tonino, 2019

• The giant titin: how to evaluate its role in cardiomyopathies, Azad, 2019

• Deleting Full Length Titin Versus the Titin MBand Region Leads to Differential Mechanosignaling and Cardiac Phenotypes, Radke, 2019

• Titin fragment in urine: A noninvasive biomarker of muscle degradation, Matsuo, 2019

• The Mechanical Power of Titin Folding, Eckels, 2019

• Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement, Ge, 2019

• Diaphragm contractile weakness due to altered mechanical loading: role of titin, Van Der Pijl, 2019

• The assembly and evaluation of antisense oligonucleotides applied  in exon skipping for titin-based mutations in dilated cardiomyopathy, Hahn, 2019

• Nebulin and titin modulate cross-bridge cycling and length dependent calcium sensitivity, Mijalovich, 2019

• Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker, Misaka, 2019

• Titin mutations and muscle disease, Kellermayer, 2019

• Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy, Akinrinade, 2019

• Titin‐truncating Variants Are Associated with Heart Failure Events in Patients with Left Ventricular Noncompaction Cardiomyopathy, 2019 Li

• A homozygous TTN gene variant associated with lethal congenital contracture syndrome, Chervins, 2019

• Titin evolution across mammals, Muenzen, 2019

• Z-band and M-band titin splicing and regulation by RNA binding, Chen, 2018

• Centronuclear myopathy with cardiomyopathy due to recessive titinopathy, Martinez-Thompson, 2018

• Analysis of Titin in Red and White Muscles: Crucial Role on Muscle Contractions Using a Fish Model, Wu, 2018

• Sarcomere length-dependent effects on Ca -troponin regulation in myocardium expressing compliant titin, Li, 2018

• Association Between Titin Loss-of-Function Variants and Early- Onset Atrial Fibrillation, Choi, 2018

• Titin as a force generating muscle protein under regulatory control motif 20 in striated muscles, Freundt, 2018

• Dilated Cardiomyopathy Factsheet

• Titin Variants in Dilated Cardiomyopathy

• A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance, Huttner, 2018

• Congenital titinopathy: Comprehensive characterisation and pathogenic insights, Oates, 2018

• An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders, Sagath, 2018

• Alternative Splicing Regulator RBM20 and Cardiomyopathy, Watanabe, 2018

• A homozygous TTN gene variant associated with lethal congenital contracture syndrome, Chervinsky, 2018

• Titin-based mechanosensing modulates muscle hypertrophy, van der Pijl, 2018

• Drug discovery with an RBM20 dependent titin splice reporter identifies cardenolides as lead structures to improve cardiac filling, Liss, 2018

• Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge, Bonnemann, 2018

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