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Select item 109373871.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Ana Töpf, Dan Cox, Irina T. Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard J. White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M. England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H. Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E. Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell-Luria, Narumi Ogonuki, Gina L. O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C. Voermans, Julia V. Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vilchez, Daniel G. MacArthur, Anna Sarkozy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch-Nentwich, Francesco Muntoni, Volker Straub

Nat Genet. 2024; 56(3): 395–407. Published online 2024 Mar 1. doi: 10.1038/s41588-023-01651-0

PMCID:: PMC10937387

Abstract Article PDF–4.7M

Select item 108809612.

The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice

Wenqiang Sun, Xiaohui Liu, Laichun Song, Liang Tao, Kaisheng Lai, Hui Jiang, Hongyan Xiao

PLoS One. 2024; 19(2): e0296802. Published online 2024 Feb 21. doi: 10.1371/journal.pone.0296802

PMCID:: PMC10880961

Abstract Article PDF–3.1M

Select item 107866893.

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 107787634.

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 107637225.

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 106904996.

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 106652267.

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 106269948.

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 105658769.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 1039458110.

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 1035114811.

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing

Hong Lian, Shen Song, Wenzheng Chen, Anteng Shi, Haobin Jiang, Shengshou Hu

J Transl Med. 2023; 21: 476. Published online 2023 Jul 17. doi: 10.1186/s12967-023-04282-5

PMCID:: PMC10351148

Abstract Article PDF–3.9M

Select item 1032325212.

Proximity labelling identifies pro-migratory endocytic recycling cargo and machinery of the Rab4 and Rab11 families

Beverley Wilson, Chloe Flett, Jakub Gemperle, Craig Lawless, Matthew Hartshorn, Eleanor Hinde, Tess Harrison, Megan Chastney, Sarah Taylor, Jennifer Allen, Jim C. Norman, Thomas Zacharchenko, Patrick T. Caswell

J Cell Sci. 2023 Jun 15; 136(12): jcs260468. Published online 2023 Jun 23. doi: 10.1242/jcs.260468

PMCID:: PMC10323252

Abstract Article

Select item 1027214213.

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 1023742214.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 1021800315.

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 1003951116.

Study of FOXO1-interacting proteins using TurboID-based proximity labeling technology

Yanting Su, Yuanyuan Guo, Jieyu Guo, Ting Zeng, Ting Wang, Wu Liu

BMC Genomics. 2023; 24: 146. Published online 2023 Mar 24. doi: 10.1186/s12864-023-09238-z

PMCID:: PMC10039511

Abstract Article PDF–2.0M

Select item 997938417.

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 992877618.

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 986008019.

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 979798820.

TBK1 posphorylation activates LIR-dependent degradation of the inflammation repressor TNIP1

Jianwen Zhou, Nikoline Lander Rasmussen, Hallvard Lauritz Olsvik, Vyacheslav Akimov, Zehan Hu, Gry Evjen, Stéphanie Kaeser-Pebernard, Devanarayanan Siva Sankar, Carole Roubaty, Pauline Verlhac, Nicole van de Beek, Fulvio Reggiori, Yakubu Princely Abudu, Blagoy Blagoev, Trond Lamark, Terje Johansen, Jörn Dengjel

J Cell Biol. 2023 Feb 6; 222(2): e202108144. Published online 2022 Dec 27. doi: 10.1083/jcb.202108144

PMCID:: PMC9797988

Abstract Article PDF–6.9M

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