| 1 | ARVD15, FLNC
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| Dilated cardiomyopathy: the role of genetics, highlighted in a family with Filamin C (FLNC) variant.
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| Dungu JN, Langley SG, Hardy-Wallace A, Li B, Barbagallo RM, Field D, Homfray T, Savage HO.
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| Heart. May;108(9):676-682. doi: 10.1136/heartjnl-2021-319682. Epub 2021 Aug 20. 2022
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| 2 | FLNC, RTN4
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| Nogo-A regulates myogenesis via interacting with Filamin-C.
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| Park S, Park JH, Kang UB, Choi SK, Elfadl A, Ullah HMA, Chung MJ, Son JY, Yun HH, Park JM, Yim JH, Jung SJ, Kim SH, Choi YC, Kim DS, Shin JH, Park JS, Hur K, Lee SH, Lee EJ, Hwang D, Jeong KS.
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| Cell Death Discov. Jan 6;7(1):1. doi: 10.1038/s41420-020-00384-x. 2021
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| 3 | ARVD15, FLNC
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| Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants
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| 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.
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| Circulation Nov 16;144(20):1600-1611. doi: 10.1161/CIRCULATIONAHA.121.053521. Epub 2021 Sep 30. 2021
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| 4 | FLNC
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| Structure and Function of Filamin C in the Muscle Z-Disc
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| Mao Z, Nakamura F.
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| Int J Mol Sci. Apr 13;21(8):2696. doi: 10.3390/ijms21082696. 2020
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| 5 | ARVD15, FLNC
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| FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations
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| 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.
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| Clin Genet. Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18. 2019
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| 6 | ARVD15, FLNC
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| Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.
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| Tucker NR, McLellan MA, Hu D, Ye J, Parsons VA, Mills RW, Clauss S, Dolmatova E, Shea MA, Milan DJ, Scott NS, Lindsay M, Lubitz SA, Domian IJ, Stone JR, Lin H, Ellinor PT.
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| Circ Cardiovasc Genet Dec;10(6):e001780. doi: 10.1161/CIRCGENETICS.117.001780. 2017
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| 7 | FLNC
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| Filamin C promotes lymphatic invasion and lymphatic metastasis and increases cell motility by regulating Rho GTPase in esophageal squamous cell carcinoma.
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| Tanabe K, Shinsato Y, Furukawa T, Kita Y, Hatanaka K, Minami K, Kawahara K, Yamamoto M, Baba K, Mori S, Uchikado Y, Maemura K, Tanimoto A, Natsugoe S.
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| Oncotarget. Jan 24;8(4):6353-6363. doi: 10.18632/oncotarget.14087. 2017
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| 8 | ARVD15, FLNC
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| Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
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| 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.
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| . J Am Coll Cardiol. Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927 2016
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| 9 | FLNC, HSPB7
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| HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles.
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| Juo LY, Liao WC, Shih YL, Yang BY, Liu AB, Yan YT.
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| J Cell Sci. Apr 15;129(8):1661-70. doi: 10.1242/jcs.179887. Epub 2016 Feb 29 2016
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| 10 | FLNA, FLNB, FLNC, PKD2
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| Structural interaction and functional regulation of polycystin-2 by filamin
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| Wang Q, Dai XQ, Li Q, Wang Z, Cantero Mdel R, Li S, Shen J, Tu JC, Cantiello H, Chen XZ.
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| PLoS One. 7(7):e40448. doi: 10.1371/journal.pone.0040448. Epub 2012 Jul 10. 2012
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| 11 | FLNC, MPD4
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| Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy.
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| Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.
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| Am J Hum Genet 88(6):729-40. Epub 2011 May 27.
2011
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| 12 | FLNC, MPD4
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| Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
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| Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A.
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| Neurology Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. 2011
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| 13 | FLNC, MYFM
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| DNA sequencing errors in molecular diagnostics of filamin myopathy.
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| Odgerel Z, van der Ven PF, Fürst DO, Goldfarb LG.
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| Clin Chem Lab Med lin Chem Lab Med. 2010 Jun 27. [Epub ahead of print]PMID: 20578970 2010
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| 14 | FLNC, MYFM
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| Dominant-negative effects of a novel mutation in the filamin myopathy.
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| Kono S, Nishio T, Takahashi Y, Goto-Inoue N, Kinoshita M, Zaima N, Suzuki H, Fukutoku-Otsuji A, Setou M, Miyajima H.
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| Neurology 75(6):547-54.PMID: 20697107 2010
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| 15 | FLNC, SYNPO2
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| The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin.
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| Linnemann A, van der Ven PF, Vakeel P, Albinus B, Simonis D, Bendas G, Schenk JA, Micheel B, Kley RA, Fürst DO.
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| Eur J Cell Biol 89(9):681-92. Epub 2010 May 31.PMID: 20554076 2010
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| 16 | FLNC, MYFM
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| In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
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| Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG.
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| Eur J Hum Genet 17(5):656-63. Epub 2008 Dec 3.PMID: 19050726 2009
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| 17 | TRIM54, FLNC, FHL2
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| Loss of muscle-specific RING-finger 3 predisposes the heart to cardiac rupture after myocardial infarction.
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| Fielitz J, van Rooij E, Spencer JA, Shelton JM, Latif S, van der Nagel R, Bezprozvannaya S, de Windt L, Richardson JA, Bassel-Duby R, Olson EN.
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| Proc Natl Acad Sci U S A 104(11):4377-82. Epub 2007 Mar 2. 2007
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| 18 | FLNC,MYFM
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| The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
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| Lowe T, Kley RA, van der Ven PF, Himmel M, Huebner A, Vorgerd M, Furst DO.
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| Hum Mol Genet 16(11):1351-8. Epub 2007 Apr 5. 2007
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| 19 | FLNC, SORBS1
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| Identification of CAP as a costameric protein that interacts with filamin C.
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| Zhang M, Liu J, Cheng A, Deyoung SM, Saltiel AR.
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| Mol Biol Cell 18(12):4731-40. Epub 2007 Sep 26.PMID: 17898075 2007
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| 20 | FLNC, MYFM
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| Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
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| Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.
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| Brain 130(Pt 12):3250-64. Review.PMID: 18055494 2007
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| 21 | MYFM, FLNC
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| A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy.
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| Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A.
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| Am J Hum Genet 77(2):297-304. Epub 2005 May 31. 2005
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| 22 | KY, FLNC
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| Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.
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| Beatham J, Romero R, Townsend SK, Hacker T, van der Ven PF, Blanco G.
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| Hum Mol Genet 13(22):2863-74. Epub 2004 Sep 22. 2004
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| 23 | ANGPTL4, FLNC, HAND1, HRASLS, LOX
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| Identification of silencing of nine genes in human gastric cancers.
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| Kaneda A, Kaminishi M, Yanagihara K, Sugimura T, Ushijima T.
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| Cancer Res 62(22):6645-50. 2002
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| 24 | FLNB, FLNC
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| Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.
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| Chakarova C, Wehnert MS, Uhl K, Sakthivel S, Vosberg HP, van der Ven PF, Furst DO.
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| Hum Genet 107(6):597-611. 2000
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| 25 | FLNA, FLNC
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| Comparative mapping of the actin-binding protein 280 genes in human and mouse.
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| Gariboldi M, et al.
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| Genomics 21 : 428-430. 1994
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| 26 | FLNA, FLNC
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| Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.
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| Maestrini E, et al.
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| Hum Mol Genet 2 : 761-766. 1993
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