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Select item 108545971.

Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Shanshan Gao, Lingaonan He, Chi Keung Lam, Matthew R. G. Taylor, Luisa Mestroni, Raffaella Lombardi, Suet Nee Chen

Cells. 2024 Feb; 13(3): 278. Published online 2024 Feb 2. doi: 10.3390/cells13030278

PMCID:: PMC10854597

Article PDF–6.4M

Select item 105305032.

Multicenter Clinical and Functional Evidence Reclassifies a Recurrent Non-canonical Filamin C Splice-altering Variant

Matthew J. O’Neill, Suet Nee Chen, Lynne Rumping, Renee Johnson, Marjon van Slegtenhorst, Andrew M. Glazer, Tao Yang, Joseph F. Solus, Julie Laudeman, Devyn W. Mitchell, Loren R. Vanags, Brett M. Kroncke, Katherine Anderson, Shanshan Gao, Job A.J. Verdonschot, Han Brunner, Debby Hellebrekers, Matthew R.G. Taylor, Dan M. Roden, Marja W. Wessels, Ronald H. Lekanne Dit Deprez, Diane Fatkin, Luisa Mestroni, M. Benjamin Shoemaker

Heart Rhythm. Author manuscript; available in PMC 2023 Sep 27.

Published in final edited form as: Heart Rhythm. 2023 Aug; 20(8): 1158–1166. Published online 2023 May 9. doi: 10.1016/j.hrthm.2023.05.006

PMCID:: PMC10530503

Article PDF–1.6M

Select item 101772603.

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems

Dominik Sellung, Lorena Heil, Nassam Daya, Frank Jacobsen, Janine Mertens-Rill, Heidi Zhuge, Kristina Döring, Misagh Piran, Hendrik Milting, Andreas Unger, Wolfgang A. Linke, Rudi Kley, Corinna Preusse, Andreas Roos, Dieter O. Fürst, Peter F. M. van der Ven, Matthias Vorgerd

Cells. 2023 May; 12(9): 1321. Published online 2023 May 5. doi: 10.3390/cells12091321

PMCID:: PMC10177260

Article PDF–7.9M

Select item 93886034.

Loss-of-Function FLNC Variants are Associated with Arrhythmogenic Cardiomyopathy Phenotypes when Identified through Exome Sequencing of a General Clinical Population

Eric D. Carruth, Maria Qureshi, Amro Alsaid, Melissa A. Kelly, Hugh Calkins, Brittney Murray, Crystal Tichnell, Amy C. Sturm, Aris Baras, H. Lester Kirchner, Brandon K. Fornwalt, Cynthia A. James, Christopher M. Haggerty

Circ Genom Precis Med. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Circ Genom Precis Med. 2022 Aug; 15(4): e003645. Published online 2022 Jun 14. doi: 10.1161/CIRCGEN.121.003645

PMCID:: PMC9388603

Article PDF–739K

Select item 90966925.

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality

Aniruddh P. Patel, Jacqueline S. Dron, Minxian Wang, James P. Pirruccello, Kenney Ng, Pradeep Natarajan, Matthew Lebo, Patrick T. Ellinor, Krishna G. Aragam, Amit V. Khera

JAMA Cardiol. 2022 Jul; 7(7): 723–732. Published online 2022 May 11. doi: 10.1001/jamacardio.2022.0901

PMCID:: PMC9096692

Article

Select item 90536466.

Filamin C cardiomyopathy variants cause protein and lysosome accumulation

Radhika Agarwal, Joao A. Paulo, Christopher N. Toepfer, Jourdan K. Ewoldt, Subramanian Sundaram, Anant Chopra, Qi Zhang, Joshua Gorham, Steven R. DePalma, Christopher S. Chen, Steven P. Gygi, Christine E. Seidman, J. G. Seidman

Circ Res. Author manuscript; available in PMC 2022 Apr 29.

Published in final edited form as: Circ Res. 2021 Sep 17; 129(7): 751–766. Published online 2021 Aug 18. doi: 10.1161/CIRCRESAHA.120.317076

PMCID:: PMC9053646

Article PDF–2.7M

Select item 88657697.

Activation of PDGFRA signaling contributes to filamin C–related arrhythmogenic cardiomyopathy

Suet Nee Chen, Chi Keung Lam, Ying-Wooi Wan, Shanshan Gao, Olfat A. Malak, Shane Rui Zhao, Raffaella Lombardi, Amrut V. Ambardekar, Michael R. Bristow, Joseph Cleveland, Marta Gigli, Gianfranco Sinagra, Sharon Graw, Matthew R.G. Taylor, Joseph C. Wu, Luisa Mestroni

Sci Adv. 2022 Feb; 8(8): eabk0052. Published online 2022 Feb 23. doi: 10.1126/sciadv.abk0052

PMCID:: PMC8865769

Article PDF–12M

Select item 88215278.

Development and Validation of a Prognostic Index Based on Genes Participating in Autophagy in Patients With Lung Adenocarcinoma

Zi-Xuan Wu, Xuyan Huang, Min-Jie Cai, Pei-Dong Huang, Zunhui Guan

Front Oncol. 2021; 11: 799759. Published online 2022 Jan 25. doi: 10.3389/fonc.2021.799759

PMCID:: PMC8821527

Article PDF–11M

Select item 87287179.

Cardiac arrest as first presentation of arrhythmogenic left ventricular cardiomyopathy due to Filamin C mutation: a case report

Navneet Kandhari, Shafik Khoury, Elijah R Behr, Chris Miles

Eur Heart J Case Rep. 2021 Nov; 5(11): ytab422. Published online 2021 Nov 22. doi: 10.1093/ehjcr/ytab422

PMCID:: PMC8728717

Article PDF–1.0M

Select item 859584510.

Phenotypic expression, natural history and risk stratification of cardiomyopathy caused by Filamin C truncating variants

Marta Gigli, Davide Stolfo, Sharon Graw, Marco Merlo, Caterina Gregorio, Suet Nee Chen, Matteo Dal Ferro, Alessia Paldino, Giulia De Angelis, Francesca Brun, Jean Jirikowic, Ernesto E. Salcedo, Sylvia Turja, Diane Fatkin, Renee Johnson, J. Peter van Tintelen, Anneline S.J.M. Te Riele, Arthur Wilde, Neal K. Lakdawala, Kermshlise Picard, Daniela Miani, Daniele Muser, Giovanni Maria Severini, Hugh Calkins, Cynthia A. James, Brittney Murray, Crystal Tichnell, Victoria N. Parikh, Euan A. Ashley, Chloe Reuter, Jiangping Song, Daniel Judge, William J McKenna, Matthew RG Taylor, Gianfranco Sinagra, Luisa Mestroni

Circulation. Author manuscript; available in PMC 2022 Nov 16.

Published in final edited form as: Circulation. 2021 Nov 16; 144(20): 1600–1611. Published online 2021 Sep 30. doi: 10.1161/CIRCULATIONAHA.121.053521

PMCID:: PMC8595845

Article PDF–1.1M

Select item 811705711.

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure

Mohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, Juan Pablo Ochoa, Constantinos O’Mahony, Maria Alejandra Restrepo-Cordoba, Diego Segura-Rodriguez, Francisco Bermúdez-Jiménez, Pilar Molina, Sofia Cuenca, Flavie Ader, Jose M. Larrañaga-Moreira, Maria Sabater-Molina, Maria I. Garcia-Alvarez, Larraitz Gaztañaga Arantzamendi, Grazyna Truszkowska, Martin Ortiz-Genga, Itziar Solla Ruiz, Søren Kristian Nielsen, Torsten Bloch Rasmussen, Ainhoa Robles Mezcua, Jorge Alvarez-Rubio, Hans Eiskjaer, Mathias Gautel, José M. Garcia-Pinilla, Tomas Ripoll-Vera, Jens Mogensen, Javier Limeres Freire, Jose F. Rodríguez-Palomares, Maria Luisa Peña-Peña, Diego Rangel-Sousa, Julian Palomino-Doza, Xabier Arana Achaga, Zofia Bilinska, Estibaliz Zamarreño Golvano, Vincent Climent, Marina Navarro Peñalver, Roberto Barriales-Villa, Philippe Charron, Raquel Yotti, Esther Zorio, Juan Jiménez-Jáimez, Pablo Garcia-Pavia, Perry M. Elliott

JAMA Cardiol. 2021 Aug; 6(8): 1–11. Published online 2021 May 12. doi: 10.1001/jamacardio.2021.1106

Correction in:: JAMA Cardiol. 2021 Aug; 6(8): 980.

PMCID:: PMC8117057

Article

Select item 753929112.

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy

Francesca Brun, Marta Gigli, Sharon L Graw, Daniel P Judge, Marco Merlo, Brittney Murray, Hugh Calkins, Gianfranco Sinagra, Matthew RG Taylor, Luisa Mestroni, Cynthia A James

J Med Genet. Author manuscript; available in PMC 2020 Oct 7.

Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 254–257. Published online 2020 Jan 10. doi: 10.1136/jmedgenet-2019-106394

PMCID:: PMC7539291

Article PDF–360K

Select item 731828713.

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Job A. J. Verdonschot, Els K. Vanhoutte, Godelieve R. F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M. E. I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. van Craenenbroeck, Bart L. Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q. C. M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stephane R. B. Heymans, Ingrid P. C. Krapels, Han G. Brunner

Hum Mutat. 2020 Jun; 41(6): 1091–1111. Published online 2020 Mar 20. doi: 10.1002/humu.24004

PMCID:: PMC7318287

Article PDF–2.3M

Select item 694059414.

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy

Charlotte L. Hall, Priyatansh Gurha, Maria Sabater-Molina, Angeliki Asimaki, Marta Futema, Ruth C. Lovering, Mari Paz Suárez, Beatriz Aguilera, Pilar Molina, Esther Zorio, Cristian Coarfa, Matthew J. Robertson, Sirisha M. Cheedipudi, Keat-eng Ng, Paul Delaney, Juan Pedro Hernández, Francisco Pastor, Juan R. Gimeno, William J. McKenna, Ali J. Marian, Petros Syrris

Int J Cardiol. Author manuscript; available in PMC 2020 Dec 5.

Published in final edited form as: Int J Cardiol. 2019 Dec 6 : S0167-5273(19)35100-9. Published online 2019 Dec 6. doi: 10.1016/j.ijcard.2019.12.002

PMCID:: PMC6940594

Article PDF–1.3M

Select item 647426815.

High filamin-C expression predicts enhanced invasiveness and poor outcome in glioblastoma multiforme

Muhammad Kamil, Yoshinari Shinsato, Nayuta Higa, Takuro Hirano, Masashi Idogawa, Tomoko Takajo, Kentaro Minami, Michiko Shimokawa, Masatatsu Yamamoto, Kohichi Kawahara, Hajime Yonezawa, Hirofumi Hirano, Tatsuhiko Furukawa, Koji Yoshimoto, Kazunori Arita

Br J Cancer. 2019 Apr 16; 120(8): 819–826. Published online 2019 Mar 14. doi: 10.1038/s41416-019-0413-x

PMCID:: PMC6474268

Article PDF–1.8M

Select item 630564916.

Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy

Hao Cui, Jizheng Wang, Ce Zhang, Guixin Wu, Changsheng Zhu, Bing Tang, Yubao Zou, Xiaohong Huang, Rutai Hui, Lei Song, Shuiyun Wang

Mol Genet Genomic Med. 2018 Nov; 6(6): 1104–1113. Published online 2018 Nov 8. doi: 10.1002/mgg3.488

PMCID:: PMC6305649

Article PDF–731K

Select item 607405017.

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures

Rene L. Begay, Sharon L. Graw, Gianfranco Sinagra, Angeliki Asimaki, Teisha J. Rowland, Dobromir B. Slavov, Katherine Gowan, Kenneth L. Jones, Francesca Brun, Marco Merlo, Daniela Miani, Mary Sweet, Kalpana Devaraj, Eric P. Wartchow, Marta Gigli, Ilaria Puggia, Ernesto E. Salcedo, Deborah M. Garrity, Amrut V. Ambardekar, Peter Buttrick, T. Brett Reece, Michael R. Bristow, Jeffrey E. Saffitz, Luisa Mestroni, Matthew R.G. Taylor

JACC Clin Electrophysiol. Author manuscript; available in PMC 2018 Aug 3.

Published in final edited form as: JACC Clin Electrophysiol. 2018 Apr; 4(4): 504–514. Published online 2018 Feb 2. doi: 10.1016/j.jacep.2017.12.003

PMCID:: PMC6074050

Article PDF–1.8M

Select item 598559318.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family

Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan, Xue-fan Yu

BMC Neurol. 2018; 18: 79. Published online 2018 Jun 4. doi: 10.1186/s12883-018-1078-4

PMCID:: PMC5985593

Article PDF–4.0M

Select item 580234619.

Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy

Nathan R. Tucker, Micheal A. McLellan, Dongjian Hu, Jiangchuan Ye, Victoria A. Parsons, Robert W. Mills, Sebastian Clauss, Elena Dolmatova, Marisa A. Shea, David J. Milan, Nandita S. Scott, Mark Lindsay, Steven A. Lubitz, Ibrahim J. Domian, James R. Stone, Honghuang Lin, Patrick T. Ellinor

Circ Cardiovasc Genet. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Circ Cardiovasc Genet. 2017 Dec; 10(6): e001780. doi: 10.1161/CIRCGENETICS.117.001780

PMCID:: PMC5802346

Article PDF–1.3M

Select item 535447620.

Quantitative proteomics reveals FLNC as a potential progression marker for the development of hepatocellular carcinoma

Yingzi Qi, Feng Xu, Lingsheng Chen, Yanchang Li, Zhongwei Xu, Yao Zhang, Wei Wei, Na Su, Tao Zhang, Fengxu Fan, Xing Wang, Xue Qin, Lingqiang Zhang, Yinkun Liu, Ping Xu

Oncotarget. 2016 Oct 18; 7(42): 68242–68252. Published online 2016 Sep 9. doi: 10.18632/oncotarget.11921

PMCID:: PMC5354476

Article PDF–8.0M

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