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PubMed (cited) for id: 617047

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Page 1
Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
Gigli M, Stolfo D, Graw SL, Merlo M, Gregorio C, Nee Chen S, Dal Ferro M, PaldinoMD A, De Angelis G, Brun F, Jirikowic J, Salcedo EE, Turja S, Fatkin D, Johnson R, van Tintelen JP, Te Riele ASJM, Wilde AAM, Lakdawala NK, Picard K, Miani D, Muser D, Maria Severini G, Calkins H, James CA, Murray B, Tichnell C, Parikh VN, Ashley EA, Reuter C, Song J, Judge DP, McKenna WJ, Taylor MRG, Sinagra G, Mestroni L. Gigli M, et al. Circulation. 2021 Nov 16;144(20):1600-1611. doi: 10.1161/CIRCULATIONAHA.121.053521. Epub 2021 Sep 30. Circulation. 2021. PMID: 34587765 Free PMC article.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.
Brun F, Gigli M, Graw SL, Judge DP, Merlo M, Murray B, Calkins H, Sinagra G, Taylor MR, Mestroni L, James CA. Brun F, et al. J Med Genet. 2020 Apr;57(4):254-257. doi: 10.1136/jmedgenet-2019-106394. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924696 Free PMC article.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. Ader F, et al. Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18. Clin Genet. 2019. PMID: 31245841
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MR. Begay RL, et al. JACC Basic Transl Sci. 2016 Aug;1(5):344-359. doi: 10.1016/j.jacbts.2016.05.004. Epub 2016 Jul 27. JACC Basic Transl Sci. 2016. PMID: 28008423 Free PMC article.
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C. Valdés-Mas R, et al. Nat Commun. 2014 Oct 29;5:5326. doi: 10.1038/ncomms6326. Nat Commun. 2014. PMID: 25351925 Free article.