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Select item 112121541.

Identification of four TTN variants in three families with fetal akinesia deformation sequence

Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang, Guosong Shen, Minyue Dong

BMC Med Genomics. 2024; 17: 170. Published online 2024 Jun 27. doi: 10.1186/s12920-024-01946-z

PMCID:: PMC11212154

Abstract Article PDF–2.2M

Select item 107866892.

TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance

J. Travis Hinson, Stuart G. Campbell

J Clin Invest. 2024 Jan 16; 134(2): e175206. Published online 2024 Jan 16. doi: 10.1172/JCI175206

PMCID:: PMC10786689

Abstract Article PDF–308K

Select item 107787633.

The Utility of Urinary Titin to Diagnose and Predict the Prognosis of Acute Myocardial Infarction

Miharu Arase, Nobuto Nakanishi, Rie Tsutsumi, Ayuka Kawakami, Yuta Arai, Hiroshi Sakaue, Jun Oto

Int J Mol Sci. 2024 Jan; 25(1): 573. Published online 2024 Jan 1. doi: 10.3390/ijms25010573

PMCID:: PMC10778763

Abstract Article PDF–1.3M

Select item 107637224.

Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere

Dalma Kellermayer, Hedvig Tordai, Balázs Kiss, György Török, Dániel M. Péter, Alex Ali Sayour, Miklós Pólos, István Hartyánszky, Bálint Szilveszter, Siegfried Labeit, Ambrus Gángó, Gábor Bedics, Csaba Bödör, Tamás Radovits, Béla Merkely, Miklós S.Z. Kellermayer

J Clin Invest. 2024 Jan 16; 134(2): e169753. Published online 2024 Jan 16. doi: 10.1172/JCI169753

PMCID:: PMC10763722

Abstract Article PDF–2.0M

Select item 106904995.

Relationships between Changes in Muscle Shear Modulus, Urinary Titin N- Terminal Fragment, and Maximum Voluntary Contraction Torque after Eccentric Exercise of the Elbow Flexors

Takayuki Inami, Shota Yamaguchi, Takuya Nishioka, Hiroyuki Ishida, Akihisa Morito, Satoshi Yamada, Naoya Nagata, Mitsuyoshi Murayama

J Sports Sci Med. 2023 Dec; 22(4): 797–805. Published online 2023 Dec 1. doi: 10.52082/jssm.2024.797

PMCID:: PMC10690499

Abstract Article PDF–541K

Select item 106652266.

Molecular insights into titin’s A-band

Jennifer R. Fleming, Iljas Müller, Thomas Zacharchenko, Kay Diederichs, Olga Mayans

J Muscle Res Cell Motil. 2023; 44(4): 255–270. Published online 2023 May 31. doi: 10.1007/s10974-023-09649-1

PMCID:: PMC10665226

Abstract Article PDF–2.8M

Select item 106269947.

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

William R. Goodyer, Kyla Dunn, Colleen Caleshu, Mary Jackson, Jennifer Wylie, Tia Moscarello, Julia Platt, Chloe Reuter, Allysonne Smith, Anthony Trela, Scott R. Ceresnak, Kara S. Motonaga, Euan Ashley, Phillip Yang, Anne M. Dubin, Marco Perez

Circ Genom Precis Med. Author manuscript; available in PMC 2023 Nov 6.

Published in final edited form as: Circ Genom Precis Med. 2019 Nov; 12(11): e002713. Published online 2019 Oct 22. doi: 10.1161/CIRCGEN.119.002713

PMCID:: PMC10626994

Article PDF–72K

Select item 103945818.

Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry

Elizabeth Jordan, Daniel D. Kinnamon, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W. H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Jonathan O. Mead, Natalie Hurst, Jinwen Cao, Gordon S. Huggins, Jason Cowan, Hanyu Ni, Heidi L. Rehm, Gail P. Jarvik, Matteo Vatta, Wylie Burke, Ray E. Hershberger

JAMA. 2023 Aug 1; 330(5): 432–441. Published online 2023 Aug 1. doi: 10.1001/jama.2023.11970

PMCID:: PMC10394581

Abstract Article

Select item 102721429.

Urinary titin N-fragment as a predictor of decreased skeletal muscle mass in patients with interstitial lung diseases

Masatoshi Hanada, Yuji Ishimatsu, Noriho Sakamoto, Yoshiko Akiyama, Takashi Kido, Hiroshi Ishimoto, Masato Oikawa, Hiroki Nagura, Rina Takeuchi, Shuntaro Sato, Hideaki Takahata, Hiroshi Mukae, Ryo Kozu

Sci Rep. 2023; 13: 9723. Published online 2023 Jun 15. doi: 10.1038/s41598-023-36827-5

PMCID:: PMC10272142

Abstract Article PDF–1.0M

Select item 1021800310.

Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis

Fabiana de Campos Gomes, Eric Renato Lima Figueiredo, Ediane Nunes De Araújo, Edila Monteiro De Andrade, Carlos Diego Lisbôa Carneiro, Gabriel Mácola De Almeida, Helana Augusta Andrade Leal Dias, Lucélia Inoue Bispo Teixeira, Manuela Trindade Almeida, Mariusa Fernandes De Farias, Natália Albim Linhares, Natasha Lima Da Fonseca, Yago Dos Santos Pereira, João Simão de Melo-Neto

Genes (Basel) 2023 May; 14(5): 1092. Published online 2023 May 16. doi: 10.3390/genes14051092

PMCID:: PMC10218003

Abstract Article PDF–835K

Select item 997938411.

TTN基因突变致儿童扩张型心肌病的研究进展

郑奎, 娄美娜

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15; 25(2): 217–222. Chinese. doi: 10.7499/j.issn.1008-8830.2208163

PMCID:: PMC9979384

Abstract Article PDF–631K

Select item 992877612.

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants

Ebba Alkhunaizi, Nicole Martin, Angie C. Jelin, Mara Rosner, Diana J. Bailey, Laurie A. Steiner, Saquib Lakhani, Weizhen Ji, Philip J. Katzman, Katherine R. Forster, Olga Jarinova, Patrick Shannon, David Chitayat, Care4Rare Canada Consortium

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 760–769. Published online 2022 Dec 10. doi: 10.1002/ajmg.a.63071

PMCID:: PMC9928776

Abstract Article PDF–1.0M

Select item 986008013.

Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery

Guanyi Huang, Anjali Bisaria, Devin L. Wakefield, Tracy M. Yamawaki, Xin Luo, Jingli A. Zhang, Patrick Vigneault, Jinghong Wang, Jeffrey D. Reagan, Oliver Oliverio, Hong Zhou, Chi-Ming Li, Olaia F. Vila, Songli Wang, Fady I. Malik, James J. Hartman, Christopher M. Hale

Stem Cell Reports. 2023 Jan 10; 18(1): 220–236. Published online 2022 Dec 15. doi: 10.1016/j.stemcr.2022.11.008

PMCID:: PMC9860080

Abstract Article PDF–7.1M

Select item 945604814.

Interdomain Linker Effect on the Mechanical Stability of Ig Domains in Titin

Bei Tong, Fang Tian, Peng Zheng

Int J Mol Sci. 2022 Sep; 23(17): 9836. Published online 2022 Aug 30. doi: 10.3390/ijms23179836

PMCID:: PMC9456048

Abstract Article PDF–2.8M

Select item 940840215.

TTN Variants Are Associated with Physical Performance and Provide Potential Markers for Sport-Related Phenotypes

Agata Leońska-Duniec, Małgorzata Borczyk, Marcin Piechota, Michał Korostyński, Andrzej Brodkiewicz, Paweł Cięszczyk

Int J Environ Res Public Health. 2022 Aug; 19(16): 10173. Published online 2022 Aug 17. doi: 10.3390/ijerph191610173

PMCID:: PMC9408402

Abstract Article PDF–352K

Select item 923690916.

Truncated titin proteins in dilated cardiomyopathy

Quentin McAfee, Christina Yingxian Chen, Yifan Yang, Matthew A. Caporizzo, Michael Morley, Apoorva Babu, Sunhye Jeong, Jeffrey Brandimarto, Kenneth C. Bedi, Jr, Emily Flam, Joseph Cesare, Thomas P. Cappola, Kenneth Margulies, Benjamin Prosser, Zolt Arany

Sci Transl Med. Author manuscript; available in PMC 2022 Nov 3.

Published in final edited form as: Sci Transl Med. 2021 Nov 3; 13(618): eabd7287. Published online 2021 Nov 3. doi: 10.1126/scitranslmed.abd7287