PubMed (GeneRIF) for id: 2318

Year	Number of Results
2003	2
2004	2
2005	1
2006	1
2007	4
2008	3
2009	3
2010	3
2011	2
2012	2
2013	4
2014	4
2015	1
2016	7
2017	6
2018	10
2019	7
2020	7
2021	7
2022	5
2023	9
2024	2

1

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

Gao S, He L, Lam CK, Taylor MRG, Mestroni L, Lombardi R, Chen SN. Gao S, et al. Cells. 2024 Feb 2;13(3):278. doi: 10.3390/cells13030278. Cells. 2024. PMID: 38334670 Free PMC article.

2

Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins.

Muranova LK, Vostrikova VM, Shatov VM, Sluchanko NN, Gusev NB. Muranova LK, et al. Biochimie. 2024 Apr;219:146-154. doi: 10.1016/j.biochi.2023.11.010. Epub 2023 Nov 26. Biochimie. 2024. PMID: 38016530

3

Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant.

Inoue S, Morita H. Inoue S, et al. Circ J. 2023 Sep 25;87(10):1404-1405. doi: 10.1253/circj.CJ-23-0616. Epub 2023 Sep 5. Circ J. 2023. PMID: 37673657 Free article. No abstract available.

4

Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.

Schoonvelde SAC, Ruijmbeek CWB, Hirsch A, van Slegtenhorst MA, Wessels MW, von der Thüsen JH, Baas AF, Stroeks SLVM, Verdonschot JAJ, van der Zwaag PA, Verhagen JMA, Michels M. Schoonvelde SAC, et al. Heart Rhythm. 2023 Nov;20(11):1512-1521. doi: 10.1016/j.hrthm.2023.08.003. Epub 2023 Aug 9. Heart Rhythm. 2023. PMID: 37562486

5

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. Lian H, et al. J Transl Med. 2023 Jul 17;21(1):476. doi: 10.1186/s12967-023-04282-5. J Transl Med. 2023. PMID: 37461109 Free PMC article.

6

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

Sellung D, Heil L, Daya N, Jacobsen F, Mertens-Rill J, Zhuge H, Döring K, Piran M, Milting H, Unger A, Linke WA, Kley R, Preusse C, Roos A, Fürst DO, Ven PFMV, Vorgerd M. Sellung D, et al. Cells. 2023 May 5;12(9):1321. doi: 10.3390/cells12091321. Cells. 2023. PMID: 37174721 Free PMC article.

7

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.

O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. O'Neill MJ, et al. Heart Rhythm. 2023 Aug;20(8):1158-1166. doi: 10.1016/j.hrthm.2023.05.006. Epub 2023 May 9. Heart Rhythm. 2023. PMID: 37164047 Free PMC article.

8

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.

Gaudreault N, Ruel LJ, Henry C, Schleit J, Lagüe P, Champagne J, Sénéchal M, Sarrazin JF, Philippon F, Bossé Y, Steinberg C. Gaudreault N, et al. Am J Med Genet A. 2023 Jun;191(6):1508-1517. doi: 10.1002/ajmg.a.63169. Epub 2023 Mar 2. Am J Med Genet A. 2023. PMID: 36864778

9

Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene.

Ripoll-Vera T. Ripoll-Vera T. Rev Esp Cardiol (Engl Ed). 2023 May;76(5):284-286. doi: 10.1016/j.rec.2022.12.005. Epub 2022 Dec 17. Rev Esp Cardiol (Engl Ed). 2023. PMID: 36539187 English, Spanish. No abstract available.

10

ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.

Bermúdez-Jiménez FJ, Carriel V, Santos-Mateo JJ, Fernández A, García-Hernández S, Ramos KA, Piqueras-Flores J, Cabrera-Romero E, Barriales-Villa R, de la Higuera Romero L, Alcalá López JE, Gimeno Blanes JR, Sánchez-Porras D, Campos F, Alaminos M, Oyonarte-Ramírez JM, Álvarez M, Tercedor L, Brodehl A, Jiménez-Jáimez J. Bermúdez-Jiménez FJ, et al. Rev Esp Cardiol (Engl Ed). 2023 May;76(5):301-311. doi: 10.1016/j.rec.2022.08.002. Epub 2022 Aug 8. Rev Esp Cardiol (Engl Ed). 2023. PMID: 35952944 English, Spanish.

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