| 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 |
| Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis. | Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis.
Gomes FC, Figueiredo ERL, Araújo EN, Andrade EM, Carneiro CDL, Almeida GM, Dias HAAL, Teixeira LIB, Almeida MT, Farias MF, Linhares NA, Fonseca NLD, Pereira YDS, Melo-Neto JS., Free PMC Article | 06/2/2023 |
| Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation. | Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation.
Schiabor Barrett KM, Cirulli ET, Bolze A, Rowan C, Elhanan G, Grzymski JJ, Lee W, Washington NL. | 04/12/2023 |
| [Recent studies on dilated cardiomyopathy caused by TTN mutations in children]. | [Recent studies on dilated cardiomyopathy caused by TTN mutations in children].
Zheng K, Lou MN., Free PMC Article | 03/24/2023 |
| Anxiety and Cardiovascular Disease Risk: a Review. | Anxiety and Cardiovascular Disease Risk: a Review.
Tully PJ, Harrison NJ, Cheung P, Cosh S. | 02/17/2023 |
| Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. | Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D, Care4Rare Canada Consortium., Free PMC Article | 02/15/2023 |
| Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery. | Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery.
Huang G, Bisaria A, Wakefield DL, Yamawaki TM, Luo X, Zhang JA, Vigneault P, Wang J, Reagan JD, Oliverio O, Zhou H, Li CM, Vila OF, Wang S, Malik FI, Hartman JJ, Hale CM., Free PMC Article | 01/21/2023 |