| Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins. | 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. | 03/15/2024 |
| Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes. | 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., Free PMC Article | 02/16/2024 |
| Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant. | 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. | 11/7/2023 |
| Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant. | Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant.
Inoue S, Morita H. | 09/26/2023 |
| Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant. | 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., Free PMC Article | 08/3/2023 |
| Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing. | 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., Free PMC Article | 07/25/2023 |
| Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems. | 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., Free PMC Article | 05/19/2023 |
| Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy. | 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. | 05/15/2023 |
| Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene. | Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene.
Ripoll-Vera T. | 05/4/2023 |
| ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium. | 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. | 05/4/2023 |
| Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population. | Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.
Carruth ED, Qureshi M, Alsaid A, Kelly MA, Calkins H, Murray B, Tichnell C, Sturm AC, Regeneron Genetics Center, Baras A, Lester Kirchner H, Fornwalt BK, James CA, Haggerty CM., Free PMC Article | 09/10/2022 |
| Dilated cardiomyopathy: the role of genetics, highlighted in a family with Filamin C (FLNC) variant. | Dilated cardiomyopathy: the role of genetics, highlighted in a family with Filamin C (FLNC) variant.
Dungu JN, Langley SG, Hardy-Wallace A, Li B, Barbagallo RM, Field D, Homfray T, Savage HO. | 06/18/2022 |
| Filamin-C variant-associated cardiomyopathy: A pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death. | Filamin-C variant-associated cardiomyopathy: A pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death.
Celeghin R, Cipriani A, Bariani R, Bueno Marinas M, Cason M, Bevilacqua M, De Gaspari M, Rizzo S, Rigato I, Da Pozzo S, Zorzi A, Perazzolo Marra M, Thiene G, Iliceto S, Basso C, Corrado D, Pilichou K, Bauce B. | 03/19/2022 |
| Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure. | Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
Akhtar MM, Lorenzini M, Pavlou M, Ochoa JP, O'Mahony C, Restrepo-Cordoba MA, Segura-Rodriguez D, Bermúdez-Jiménez F, Molina P, Cuenca S, Ader F, Larrañaga-Moreira JM, Sabater-Molina M, Garcia-Alvarez MI, Arantzamendi LG, Truszkowska G, Ortiz-Genga M, Ruiz IS, Nielsen SK, Rasmussen TB, Robles Mezcua A, Alvarez-Rubio J, Eiskjaer H, Gautel M, Garcia-Pinilla JM, Ripoll-Vera T, Mogensen J, Limeres Freire J, Rodríguez-Palomares JF, Peña-Peña ML, Rangel-Sousa D, Palomino-Doza J, Arana Achaga X, Bilinska Z, Zamarreño Golvano E, Climent V, Peñalver MN, Barriales-Villa R, Charron P, Yotti R, Zorio E, Jiménez-Jáimez J, Garcia-Pavia P, Elliott PM, European Genetic Cardiomyopathies Initiative Investigators., Free PMC Article | 01/15/2022 |
| Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation. | Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation.
Agarwal R, Paulo JA, Toepfer CN, Ewoldt JK, Sundaram S, Chopra A, Zhang Q, Gorham J, DePalma SR, Chen CS, Gygi SP, Seidman CE, Seidman JG., Free PMC Article | 01/15/2022 |
| Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. | 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., Free PMC Article | 01/8/2022 |
| A mutation update for the FLNC gene in myopathies and cardiomyopathies. | 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., Free PMC Article | 11/6/2021 |
| Filamin C missense variant associated with severe right atrial disease and skeletal myopathy. | Filamin C missense variant associated with severe right atrial disease and skeletal myopathy.
Conte G, Piciacchia F, Medeiros-Domingo A, Grego S, Ripellino P, Auricchio A. | 10/23/2021 |
| Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews. | Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews.
Oz S, Yonath H, Visochyk L, Ofek E, Landa N, Reznik-Wolf H, Ortiz-Genga M, Monserrat L, Ben-Gal T, Goitein O, Beinart R, Glikson M, Freimark D, Pras E, Arad M, Nof E. | 06/26/2021 |
| Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese. | Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Lee HH, Wong S, Sheng B, Pan NK, Leung YF, Lau KD, Cheng YS, Ho LC, Li R, Lee CN, Tsoi TH, Cheung YN, Fu YM, Kan NA, Chu YP, Au WL, Yeung HJ, Li SH, Cheung CM, Tong HF, Hung LE, Chan TY, Li CT, Tong TT, Tong TC, Leung HC, Lee KH, Yeung SS, Lee SB, Lau TG, Lam CW, Mak CM, Chan AY. | 06/12/2021 |
| Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. | Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ. | 06/12/2021 |
| A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers. | A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
Evangelista T, Lornage X, Carlier PG, Bassez G, Brochier G, Chanut A, Lacène E, Bui MT, Metay C, Oppermann U, Böhm J, Laporte J, Romero NB. | 03/6/2021 |
| FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy. | FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.
Qin X, Li P, Qu HQ, Liu Y, Xia Y, Chen S, Yang Y, Huang S, Wen P, Zhou X, Li X, Wang Y, Tian L, Hakonarson H, Wu Y, Zhuang J. | 02/6/2021 |
| FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. | 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., Free PMC Article | 02/6/2021 |
| RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy. | RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.
Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suárez MP, Aguilera B, Molina P, Zorio E, Coarfa C, Robertson MJ, Cheedipudi SM, Ng KE, Delaney P, Hernández JP, Pastor F, Gimeno JR, McKenna WJ, Marian AJ, Syrris P., Free PMC Article | 12/26/2020 |