| Gender and melanoma subtype-based prognostic implications of MUC16 and TTN co-occurrent mutations in melanoma: A retrospective multi-study analysis. | Gender and melanoma subtype-based prognostic implications of MUC16 and TTN co-occurrent mutations in melanoma: A retrospective multi-study analysis.
Kodali N, Alomary S, Bhattaru A, Eldaboush A, Schwartz RA, Lipner SR., Free PMC Article | 10/28/2024 |
| Titin truncating variants, cardiovascular risk factors and the risk of atrial fibrillation and heart failure. | Titin truncating variants, cardiovascular risk factors and the risk of atrial fibrillation and heart failure.
Shetty NS, Gaonkar M, Pampana A, Patel N, Li P, Arora G, Arora P. | 10/8/2024 |
| Association of Titin Polymorphisms with the Progression of Oral Squamous Cell Carcinoma and Its Clinicopathological Characteristics. | Association of Titin Polymorphisms with the Progression of Oral Squamous Cell Carcinoma and Its Clinicopathological Characteristics.
Hsu CH, Chen MK, Lo YS, Ho HY, Lin CC, Chuang YC, Hsieh MJ, Chou MC., Free PMC Article | 10/4/2024 |
| Identification of four TTN variants in three families with fetal akinesia deformation sequence. | Identification of four TTN variants in three families with fetal akinesia deformation sequence.
Fan L, Li H, Xu Y, Huang Y, Qian Y, Jin P, Shen X, Li Z, Liu M, Liang Y, Shen G, Dong M., Free PMC Article | 07/19/2024 |
| TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden. | TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden.
Li L, Yue P, Zhu J, Li L, Wang K, Yuan G, Song Y. | 06/5/2024 |
| Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene. | Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
Perna A, Bosco L, Fattori F, Torchia E, Modoni A, Papacci M, Petrucci A, Tasca G, Ricci E, Bertini ES, Silvestri G. | 04/25/2024 |
| Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy. | Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy.
Skriver SV, Krett B, Poulsen NS, Krag T, Walas HR, Christensen AH, Bundgaard H, Vissing J, Vissing CR. | 04/8/2024 |
| Titin copy number variations associated with dominant inherited phenotypes. | Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M., | 03/27/2024 |
| Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V., Free PMC Article | 03/21/2024 |
| Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin. | Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR, Rees M, Gautel M, Fraternali F. | 03/15/2024 |
| The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice. | The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.
Sun W, Liu X, Song L, Tao L, Lai K, Jiang H, Xiao H., Free PMC Article | 02/26/2024 |
| Severe cardiac conduction disease associated with titin gene mutation. | Severe cardiac conduction disease associated with titin gene mutation.
Uniat J, Hill A, Shwayder M, Bar-Cohen Y. | 02/16/2024 |
| TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance. | TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance.
Hinson JT, Campbell SG., Free PMC Article | 02/6/2024 |
| Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere. | Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D, Tordai H, Kiss B, Török G, Péter DM, Sayour AA, Pólos M, Hartyánszky I, Szilveszter B, Labeit S, Gángó A, Bedics G, Bödör C, Radovits T, Merkely B, Kellermayer MS., Free PMC Article | 01/29/2024 |
| Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy. | Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.
Li MW, Li F, Cheng ZX, Cheng J, Wu Q, Wang ZX, Wang F, Zhou P. | 01/29/2024 |
| Left Atrial Function in Patients with Titin Cardiomyopathy. | Left Atrial Function in Patients with Titin Cardiomyopathy.
Henkens MTHM, Raafs AG, Vanloon T, Vos JL, Vandenwijngaard A, Brunner HG, Krapels IPC, Knackstedt C, Gerretsen S, Hazebroek MR, Vernooy K, Nijveldt R, Lumens J, Verdonschot JAJ. | 01/17/2024 |
| The Utility of Urinary Titin to Diagnose and Predict the Prognosis of Acute Myocardial Infarction. | The Utility of Urinary Titin to Diagnose and Predict the Prognosis of Acute Myocardial Infarction.
Arase M, Nakanishi N, Tsutsumi R, Kawakami A, Arai Y, Sakaue H, Oto J., Free PMC Article | 01/16/2024 |
| Relationships between Changes in Muscle Shear Modulus, Urinary Titin N- Terminal Fragment, and Maximum Voluntary Contraction Torque after Eccentric Exercise of the Elbow Flexors. | Relationships between Changes in Muscle Shear Modulus, Urinary Titin N- Terminal Fragment, and Maximum Voluntary Contraction Torque after Eccentric Exercise of the Elbow Flexors.
Inami T, Yamaguchi S, Nishioka T, Ishida H, Morito A, Yamada S, Nagata N, Murayama M., Free PMC Article | 12/6/2023 |
| Molecular insights into titin's A-band. | Molecular insights into titin's A-band.
Fleming JR, Müller I, Zacharchenko T, Diederichs K, Mayans O., Free PMC Article | 11/28/2023 |
| Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy. | Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy.
Domínguez F, Lalaguna L, Martínez-Martín I, Piqueras-Flores J, Rasmussen TB, Zorio E, Giovinazzo G, Prados B, Ochoa JP, Bornstein B, González-López E, Velázquez-Carreras D, Pricolo MR, Gutiérrez-Agüera F, Bernal JA, Herrero-Galán E, Alegre-Cebollada J, Lara-Pezzi E, García-Pavía P. | 08/25/2023 |
| The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. | The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B. | 08/23/2023 |
| Titin related myopathy with ophthalmoplegia. A novel phenotype. | Titin related myopathy with ophthalmoplegia. A novel phenotype.
Alawneh I, Yuki KE, Amburgey K, Yoon G, Dowling JJ, Hazrati LN, Gonorazky H. | 08/19/2023 |
| Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry. | Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry.
Jordan E, Kinnamon DD, Haas GJ, Hofmeyer M, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Fishbein DP, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Mead JO, Hurst N, Cao J, Huggins GS, Cowan J, Ni H, Rehm HL, Jarvik GP, Vatta M, Burke W, Hershberger RE, DCM Precision Medicine Study of the DCM Consortium., Free PMC Article | 08/9/2023 |
| Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing. | Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Lian H, Song S, Chen W, Shi A, Jiang H, Hu S., Free PMC Article | 07/25/2023 |
| Urinary titin N-fragment as a predictor of decreased skeletal muscle mass in patients with interstitial lung diseases. | Urinary titin N-fragment as a predictor of decreased skeletal muscle mass in patients with interstitial lung diseases.
Hanada M, Ishimatsu Y, Sakamoto N, Akiyama Y, Kido T, Ishimoto H, Oikawa M, Nagura H, Takeuchi R, Sato S, Takahata H, Mukae H, Kozu R., Free PMC Article | 06/24/2023 |