Gene Symbol: FLNC
Description: filamin C
Alias: ABP-280, ABP280A, ABPA, ABPL, CMH26, FLN2, MFM5, MPD4, RCM5, filamin-C, ABP-280-like protein, ABP-L, gamma filamin, actin binding protein 280, filamin C, gamma, filamin-2, gamma filamin
Species: human
Products:     FLNC

Top Publications

  1. Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, et al. Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum Mol Genet. 1993;2:761-6 pubmed
  2. Liu G, Thomas L, Warren R, Enns C, Cunningham C, Hartwig J, et al. Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway. J Cell Biol. 1997;139:1719-33 pubmed
    ..The novel roles of ABP-280 and the cytoskeleton in the sorting of furin in the TGN/ endosomal system and the formation of proprotein processing compartments are discussed. ..
  3. van der Ven P, Obermann W, Lemke B, Gautel M, Weber K, Fürst D. Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. Cell Motil Cytoskeleton. 2000;45:149-62 pubmed
    ..In cultured myotubes, ABP-L/gamma-filamin localises in Z-discs already at the first stages of Z-disc formation, suggesting that ABP-L/gamma-filamin might play a role in Z-disc assembly. ..
  4. Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, et al. Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994;21:428-30 pubmed
    ..ABP-280 or filamin (FLN1) is present in the cytoskeleton of many cell types, whereas expression of FLN2 is limited to skeletal muscle and heart...
  5. Marti A, Luo Z, Cunningham C, Ohta Y, Hartwig J, Stossel T, et al. Actin-binding protein-280 binds the stress-activated protein kinase (SAPK) activator SEK-1 and is required for tumor necrosis factor-alpha activation of SAPK in melanoma cells. J Biol Chem. 1997;272:2620-8 pubmed
    ..ABP-280 participates in TNF-alpha signal transduction to SAPKs, in part through the binding of SEK-1. ..
  6. Xu W, Xie Z, Chung D, Davie E. A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha. Blood. 1998;92:1268-76 pubmed
    ..ABP-276 and/or ABP-278 were present in all tissues examined, but the relative amount varied in that some tissue contained both forms, while other tissue contained predominately one or the other. ..
  7. Xie Z, Xu W, Davie E, Chung D. Molecular cloning of human ABPL, an actin-binding protein homologue. Biochem Biophys Res Commun. 1998;251:914-9 pubmed
    Based on two partial cDNA sequences, a full-length cDNA sequence for an actin-binding like protein previously named ABPL has been isolated and characterized. ABPL is homologous to the human actin-binding proteins ABP-280 and ABP-278...
  8. Thompson T, Chan Y, Hack A, Brosius M, Rajala M, Lidov H, et al. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000;148:115-26 pubmed
    ..Using the yeast two-hybrid method, we have identified a skeletal muscle-specific form of filamin, which we term filamin 2 (FLN2), as a gamma- and delta-sarcoglycan interacting protein...
  9. Stossel T, Condeelis J, Cooley L, Hartwig J, Noegel A, Schleicher M, et al. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol. 2001;2:138-45 pubmed
    ..They integrate cellular architectural and signalling functions and are essential for fetal development and cell locomotion. Here, we describe the history, structure and function of this group of proteins. ..

More Information

Publications119 found, 100 shown here

  1. Kaneda A, Kaminishi M, Yanagihara K, Sugimura T, Ushijima T. Identification of silencing of nine genes in human gastric cancers. Cancer Res. 2002;62:6645-50 pubmed
    ..Nine CpG islands (CGIs) in the 5' regions of nine genes, LOX, HRASLS, bA305P22.2.3, FLNc (gamma-filamin/ABPL), HAND1, a homologue of RIKEN 2210016F16, FLJ32130, PGAR (HFARP/ANGPTL4/ARP4), and ..
  2. Duff R, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011;88:729-740 pubmed publisher
    ..6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy...
  3. Papizan J, Garry G, Brezprozvannaya S, McAnally J, Bassel Duby R, Liu N, et al. Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice. J Clin Invest. 2017;127:3730-3740 pubmed publisher
    ..We used proteomics to identify several candidate Klhl31 substrates, including Filamin-C (FlnC)...
  4. Batac M, Denning D. Serious fungal infections in the Philippines. Eur J Clin Microbiol Infect Dis. 2017;36:937-941 pubmed publisher
    ..Allergic bronchopulmonary aspergillosis (ABPA) and severe asthma with fungal sensitization (SAFS) frequencies, which were derived from the number of asthmatic ..
  5. Wadi J, Denning D. Burden of Serious Fungal Infections in Jordan. J Fungi (Basel). 2018;4: pubmed publisher
    ..Allergic bronchopulmonary aspergillosis (ABPA) and severe asthma with fungal sensitization (SAFS) prevalence in adults with asthma were estimated at 8900 and 11,..
  6. Zaki S, Denning D. Serious fungal infections in Egypt. Eur J Clin Microbiol Infect Dis. 2017;36:971-974 pubmed publisher
    ..Asthma is common in Egypt, affecting 9.4% of adults, 5.35 million, and so ABPA and SAFS were estimated in around 162/100,000 and 214/100,000 respectively...
  7. Gugnani H, Denning D. Estimated Burden of Serious Fungal Infections in Jamaica by Literature Review and Modelling. West Indian Med J. 2015;64:245-9 pubmed publisher
    ..Chronic pulmonary aspergillosis (CPA), allergic bronchopulmonary aspergillosis (ABPA) and severe asthma with fungal sensitization (SAFS) rates were derived from asthma and TB rates...
  8. Zurita J, Denning D, Paz Y Miño A, Solís M, Arias L. Serious fungal infections in Ecuador. Eur J Clin Microbiol Infect Dis. 2017;36:975-981 pubmed publisher
    ..5/100,000). In addition, allergic bronchopulmonary aspergillosis (ABPA) in asthma and severe asthma with fungal sensitization (SAFS) were estimated to affect 26,642 and 45,013 people, ..
  9. Alvarez Duarte E, Denning D. Serious fungal infections in Chile. Eur J Clin Microbiol Infect Dis. 2017;36:983-986 pubmed publisher
    ..7/100,000. In addition, allergic bronchopulmonary aspergillosis (ABPA) and severe asthma with fungal sensitisation (SAFS) were estimated to be around 97...
  10. Gugnani H, Denning D. Burden of serious fungal infections in the Dominican Republic. J Infect Public Health. 2016;9:7-12 pubmed publisher
    ..The chronic pulmonary aspergillosis (CPA), allergic bronchopulmonary aspergillosis (ABPA), and severe asthma with fungal sensitization (SAFS) rates were derived from the asthma and TB rates...
  11. Reimann L, Wiese H, Leber Y, Schwäble A, Fricke A, Rohland A, et al. Myofibrillar Z-discs Are a Protein Phosphorylation Hot Spot with Protein Kinase C (PKCα) Modulating Protein Dynamics. Mol Cell Proteomics. 2017;16:346-367 pubmed publisher
    ..In an illustrative fashion, we analyzed the actin-binding multiadaptor protein filamin C (FLNc), which is essential for Z-disc assembly and maintenance, and found that PKCα phosphorylation at ..
  12. Riera F, Caeiro J, Denning D. Burden of Serious Fungal Infections in Argentina. J Fungi (Basel). 2018;4: pubmed publisher
    ..Asthma is also common, affecting 14% of adults, and so allergic bronchopulmonary aspergillosis (ABPA) and severe asthma with fungal sensitization (SAFS) are major problems...
  13. Badiane A, Ndiaye D, Denning D. Burden of fungal infections in Senegal. Mycoses. 2015;58 Suppl 5:63-9 pubmed publisher
    ..2% to 8.2% (mean 5%); 9976 adults have allergic bronchopulmonary aspergillosis (ABPA) and 13,168 have severe asthma with fungal sensitisation (SAFS)...
  14. Sacarlal J, Denning D. Estimated Burden of Serious Fungal Infections in Mozambique. J Fungi (Basel). 2018;4: pubmed publisher
    ..disease and tuberculosis data were used to estimate the burden of allergic bronchopulmonary aspergillosis (ABPA) and chronic pulmonary aspergillosis (CPA). In 2016, the Mozambique population was 26.4 million with 1...
  15. Medina N, Samayoa B, Lau Bonilla D, Denning D, Herrera R, Mercado D, et al. Burden of serious fungal infections in Guatemala. Eur J Clin Microbiol Infect Dis. 2017;36:965-969 pubmed publisher
    ..In the general population, an estimated 5,568 adult asthmatics have allergic bronchopulmonary aspergillosis (ABPA) based on a 2.42% prevalence of asthma and a 2.5% ABPA proportion...
  16. King J, Brunel S, Warris A. Aspergillus infections in cystic fibrosis. J Infect. 2016;72 Suppl:S50-5 pubmed publisher
    ..and other filamentous fungi in the pathogenesis of non-ABPA (allergic bronchopulmonary aspergillosis) respiratory disease in CF, despite their frequent recovery in respiratory ..
  17. Tobin S, Yang D, Girgis J, Farahzad A, Blais A, McDermott J. Regulation of Hspb7 by MEF2 and AP-1: implications for Hspb7 in muscle atrophy. J Cell Sci. 2016;129:4076-4090 pubmed
    ..of the actin cytoskeleton, we characterized the expression of putative MEF2 and AP-1 target genes (Dstn, Flnc, Hspb7, Lmod3 and Plekhh2) under atrophic conditions using dexamethasone (Dex) treatment in skeletal myoblasts...
  18. Namvar S, Warn P, Farnell E, Bromley M, Fraczek M, Bowyer P, et al. Aspergillus fumigatus proteases, Asp f 5 and Asp f 13, are essential for airway inflammation and remodelling in a murine inhalation model. Clin Exp Allergy. 2015;45:982-993 pubmed publisher
    ..fumigatus can lead to the development of atopic lung diseases such as allergic bronchopulmonary aspergillosis (ABPA) and severe asthma with fungal sensitization (SAFS)...
  19. Unger A, Beckendorf L, Böhme P, Kley R, von Frieling Salewsky M, Lochmuller H, et al. Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. Acta Neuropathol Commun. 2017;5:72 pubmed publisher
    ..increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared ..
  20. Lee K, Jeong J, Kim S, Cho S, Kolliputi N, Ko Y, et al. Phosphoinositide 3-kinase-δ regulates fungus-induced allergic lung inflammation through endoplasmic reticulum stress. Thorax. 2016;71:52-63 pubmed publisher
    ..Similarly, glucose-regulated protein 78 was increased in lung tissues of patients with ABPA. A PI3K-δ inhibitor reduced Af-induced increases in ER stress markers, UPR-related proteins, allergic ..
  21. Huang R, Li M, Ye M, Yang K, Xu X, Gregory R. Effects of Nicotine on Streptococcus gordonii Growth, Biofilm Formation, and Cell Aggregation. Appl Environ Microbiol. 2014;80:7212-8 pubmed publisher
    ..Quantitative reverse transcriptase PCR indicated S. gordonii abpA, scaA, ccpA, and srtA were upregulated in planktonic cells by 2 mg/ml nicotine...
  22. Haase E, Kou Y, Sabharwal A, Liao Y, Lan T, Lindqvist C, et al. Comparative genomics and evolution of the amylase-binding proteins of oral streptococci. BMC Microbiol. 2017;17:94 pubmed publisher
    ..Among the sequenced ABPs, 14 matched amylase-binding protein A (AbpA), 6 matched amylase-binding protein B (AbpB), and 11 unique ABPs were identified as peptidoglycan-binding, ..
  23. Kong S, Hu Y, Ho J, Ikeda S, Polster S, John R, et al. Heart failure-associated changes in RNA splicing of sarcomere genes. Circ Cardiovasc Genet. 2010;3:138-46 pubmed publisher
    ..4 key sarcomere genes, cardiac troponin T (TNNT2), cardiac troponin I (TNNI3), myosin heavy chain 7 (MYH7), and filamin C, gamma (FLNC), was significantly altered in ischemic cardiomyopathy and in dilated cardiomyopathy and aortic ..
  24. Sehgal I, Dhooria S, Bal A, Agarwal R. Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. BMJ Case Rep. 2015;2015: pubmed publisher
    Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder resulting from immune responses directed against inhaled Aspergillus fumigatus antigens...
  25. Reece E, Segurado R, Jackson A, McClean S, Renwick J, Greally P. Co-colonisation with Aspergillus fumigatus and Pseudomonas aeruginosa is associated with poorer health in cystic fibrosis patients: an Irish registry analysis. BMC Pulm Med. 2017;17:70 pubmed publisher
    ..and complications of CF, including CF related diabetes (CFRD) and allergic bronchopulmonary aspergillosis (ABPA)...
  26. Sinkó J, Sulyok M, Denning D. Burden of serious fungal diseases in Hungary. Mycoses. 2015;58 Suppl 5:29-33 pubmed publisher
    ..sensitisation (SAFS) and more than 13,000 are at risk for developing allergic bronchopulmonary aspergillosis (ABPA)...
  27. Salzer H, Lange C, Hönigl M. [Aspergillus in airway material : Ignore or treat?]. Internist (Berl). 2017;58:1150-1162 pubmed publisher
    ..as hypersensitivity pneumonitis to allergic infectious diseases, such as allergic bronchopulmonary aspergillosis (ABPA) and bronchocentric granulomatosis (BG) to infectious diseases, such as invasive (IA) or semi-invasive ..
  28. Kalua K, Zimba B, Denning D. Estimated Burden of Serious Fungal Infections in Malawi. J Fungi (Basel). 2018;4: pubmed publisher
    ..67%) and 14,010 cases of allergic bronchopulmonary aspergillosis (ABPA). Tinea capitis is estimated to be present in over 670,000 young people (21% of school age children)...
  29. Szostak J, Boue S, Talikka M, Guedj E, Martin F, Phillips B, et al. Aerosol from Tobacco Heating System 2.2 has reduced impact on mouse heart gene expression compared with cigarette smoke. Food Chem Toxicol. 2017;101:157-167 pubmed publisher
    ..the contractile function of the heart, notably genes that encode beta actin (Actb), actinin alpha 4 (Actn4), and filamin C (Flnc). This was accompanied by the downregulation of genes related to the inflammatory response...
  30. Yii A, Koh M, Lapperre T, Tan G, Chotirmall S. The emergence of Aspergillus species in chronic respiratory disease. Front Biosci (Schol Ed). 2017;9:127-138 pubmed
    ..the setting of asthma, hypersensitivity to Aspergillus can lead to allergic bronchopulmonary aspergillosis (ABPA) or severe asthma with fungal sensitization (SAFS)...
  31. Paranavitane V, Coadwell W, Eguinoa A, Hawkins P, Stephens L. LL5beta is a phosphatidylinositol (3,4,5)-trisphosphate sensor that can bind the cytoskeletal adaptor, gamma-filamin. J Biol Chem. 2003;278:1328-35 pubmed
    ..This interaction could co-localize heterologously expressed gamma-filamin with GFP-LL5beta in the unidentified vesicles. ..
  32. Sehgal I, Dhooria S, Behera D, Agarwal R. Allergic bronchopulmonary aspergillosis complicating Swyer-James-Macleod's syndrome: case report and review of literature. Eur Ann Allergy Clin Immunol. 2016;48:99-102 pubmed
    Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder that results from immune responses mounted against antigens of Aspergillus fumigatus, resulting in non-specific respiratory symptoms and structural lung damage...
  33. Porsbjerg C, Menzies Gow A. Co-morbidities in severe asthma: Clinical impact and management. Respirology. 2017;22:651-661 pubmed publisher
    ..syndrome (OSAS), gastroesophageal reflux disease (GERD), bronchiectasis, allergic bronchopulmonary aspergillosis (ABPA) and eosinophilic granulomatous with polyangiitis (EGPA)...
  34. Seroussi E, Pitel F, Leroux S, Morisson M, Bornelöv S, Miyara S, et al. Mapping of leptin and its syntenic genes to chicken chromosome 1p. BMC Genet. 2017;18:77 pubmed publisher
    ..with other vertebrates, we also mapped five additional genes to this genomic region (ARF5, SND1, LRRC4, RBM28, and FLNC), bridging the genomic gap in the current Galgal5 build for this chromosome region...
  35. Bosch Comas A, Lindsten K, Gonzalez Duarte R, Masucci M, Marfany G. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. Cell Mol Life Sci. 2006;63:723-34 pubmed
    ..USP25m interacts with three sarcomeric proteins: actin alpha-1 (ACTA1), filamin C (FLNC), and myosin binding protein C1 (MyBPC1), which are critically involved in muscle differentiation and ..
  36. Ryan M, Clark C. Allergic Fungal Rhinosinusitis and the Unified Airway: the Role of Antifungal Therapy in AFRS. Curr Allergy Asthma Rep. 2015;15:75 pubmed publisher
    ..Because of many clinicopathologic similarities to allergic bronchopulmonary aspergillosis (ABPA), these conditions can be considered analogous examples of disease in the unified airway...
  37. Guergueltcheva V, Peeters K, Baets J, Ceuterick de Groote C, Martin J, Suls A, et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology. 2011;77:2105-14 pubmed publisher
    ..In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly transmitted adult onset distal myopathy with upper limb predominance...
  38. Mirković B, Lavelle G, Azim A, Helma K, Gargoum F, Molloy K, et al. The basophil surface marker CD203c identifies Aspergillus species sensitization in patients with cystic fibrosis. J Allergy Clin Immunol. 2016;137:436-443.e9 pubmed publisher
    ..with cystic fibrosis (CF) can cause A fumigatus sensitization and/or allergic bronchopulmonary aspergillosis (ABPA), which affects pulmonary function and clinical outcomes...
  39. Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller Nurasyid M, et al. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS ONE. 2017;12:e0172995 pubmed publisher
    ..01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus...
  40. Flament T, Marchand Adam S, Gatault P, Dupin C, Diot P, Guilleminault L. What are the characteristics of asthma patients with elevated serum IgG4 levels?. Respir Med. 2016;112:39-44 pubmed publisher
    ..001). Allergic broncho-pulmonary aspergillosis (ABPA) and eosinophilic granulomatosis with polyangiitis (EGPA) were observed in the asthma patients with elevated serum ..
  41. De Soyza A, Aliberti S. Bronchiectasis and Aspergillus: How are they linked?. Med Mycol. 2017;55:69-81 pubmed
    ..Bronchiectasis is associated with many Aspergillus-associated syndromes: allergic bronchopulmonary aspergillosis (ABPA) may complicate asthma, thus leading to bronchiectasis as part of the diagnostic criteria of ABPA or can complicate ..
  42. Ortiz Genga M, Cuenca S, Dal Ferro M, Zorio E, Salgado Aranda R, Climent V, et al. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. J Am Coll Cardiol. 2016;68:2440-2451 pubmed publisher
    b>Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers...
  43. Odgerel Z, van der Ven P, Furst D, Goldfarb L. DNA sequencing errors in molecular diagnostics of filamin myopathy. Clin Chem Lab Med. 2010;48:1409-14 pubmed publisher
    ..muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene...
  44. Xu H, Zhao Y, Wang W, Liu J, Zhao S. [Allergic bronchopulmonary aspergillosis: a report of four cases with literature review]. Zhonghua Er Ke Za Zhi. 2015;53:532-6 pubmed
    To understand the clinical characteristics of allergic bronchopulmonary aspergillosis (ABPA) so as to diagnose and treat the disease earlier...
  45. Chevessier F, Schuld J, Orfanos Z, Plank A, Wolf L, Maerkens A, et al. Myofibrillar instability exacerbated by acute exercise in filaminopathy. Hum Mol Genet. 2015;24:7207-20 pubmed publisher
    b>Filamin C (FLNC) mutations in humans cause myofibrillar myopathy (MFM) and cardiomyopathy, characterized by protein aggregation and myofibrillar degeneration...
  46. Kebir S, Orfanos Z, Schuld J, Linhart M, Lamberz C, van der Ven P, et al. Sarcomeric lesions and remodeling proximal to intercalated disks in overload-induced cardiac hypertrophy. Exp Cell Res. 2016;348:95-105 pubmed publisher
    ..b>Filamin C (FlnC) and Xin actin-binding repeat-containing proteins (XIRPs) are multi-adapters localizing in IDs of higher ..
  47. Keller N. Heterogeneity Confounds Establishment of "a" Model Microbial Strain. MBio. 2017;8: pubmed publisher
    ..mold and the leading cause of diverse human diseases ranging from allergenic bronchopulmonary aspergillosis (ABPA) to invasive pulmonary aspergillosis (IPA)...
  48. Paranavitane V, Stephens L, Hawkins P. Structural determinants of LL5beta subcellular localisation and association with filamin C. Cell Signal. 2007;19:817-24 pubmed
    ..These observations start to define the basis for PI3K regulation of filamin through LL5beta. ..
  49. Singh T, Gupta S, Shrivastav B, Tiwari P. Epigenetic profiling of gallbladder cancer and gall stone diseases: Evaluation of role of tumour associated genes. Gene. 2016;576:743-52 pubmed publisher
    ..Methylation specific PCR for seven tumour associated genes, viz., MASPIN, 14-3-3 sigma gene, THBS1, FLNC, HLTF, COX-2 and SOCS1, was performed in 50 gallbladder cancer (GBC), 30 gall stone diseases (GSD) and their ..
  50. Aakula A, Kohonen P, Leivonen S, Mäkelä R, Hintsanen P, Mpindi J, et al. Systematic Identification of MicroRNAs That Impact on Proliferation of Prostate Cancer Cells and Display Changed Expression in Tumor Tissue. Eur Urol. 2016;69:1120-8 pubmed publisher
    ..Seven genes, FLNC, MSRB3, PARVA, PCDH7, PRNP, RAB34, and SORBS1, showed an inverse association to their predicted miRNA, and were ..
  51. Avila Smirnow D, Gueneau L, Batonnet Pichon S, Delort F, Becane H, Claeys K, et al. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. Rev Neurol (Paris). 2016;172:594-606 pubmed publisher
    ..Tyr1216Asn change, co-segregating with the disease, in a highly conserved amino acid of the protein. Normal filamin C levels were detected by Western-blot analysis in patient muscle biopsies and expression of the mutant protein in ..
  52. Overton N, Simpson A, Bowyer P, Denning D. Genetic susceptibility to severe asthma with fungal sensitization. Int J Immunogenet. 2017;44:93-106 pubmed publisher
    ..049) and adenosine A2a receptor (p = .024). These associations differ from those found in ABPA in asthma, indicative of contrasting disease processes...
  53. Qiu Z, Kang S, He L, Zhao J, Zhang S, Hu J, et al. The newly identified heat-stress sensitive albino 1 gene affects chloroplast development in rice. Plant Sci. 2018;267:168-179 pubmed publisher
    ..The hsa1 mutant harbors a recessive mutation in a gene encoding fructokinase-like protein2 (FLN2); the mutation causes a premature stop codon and results in a severe albino phenotype, with defects in early ..
  54. Agarwal R, Aggarwal A, Dhooria S, Singh Sehgal I, Garg M, Saikia B, et al. A randomised trial of glucocorticoids in acute-stage allergic bronchopulmonary aspergillosis complicating asthma. Eur Respir J. 2016;47:490-8 pubmed publisher
    Whether use of high-dose steroids in acute-stage allergic bronchopulmonary aspergillosis (ABPA) is associated with superior outcomes is not known. Herein, we compare the efficacy and safety of two glucocorticoid protocols in ABPA...
  55. Viviani L, Harrison M, Zolin A, Haworth C, Floto R. Epidemiology of nontuberculous mycobacteria (NTM) amongst individuals with cystic fibrosis (CF). J Cyst Fibros. 2016;15:619-23 pubmed publisher
    ..0001), 2.36 times higher (95%CI: 1.80;3.08) in patients with ABPA than without (p<0.0001), 1.79 times higher (95%CI: 1.34; 2...
  56. Gamaletsou M, Denning D. Gastroesophageal Reflux Disease and Pulmonary Diseases Associated with Aspergillosis: Is There a Connection?. Mycopathologia. 2017;182:1125-1129 pubmed publisher
    We studied the relationship between GORD and allergic bronchopulmonary aspergillosis (ABPA), chronic pulmonary aspergillosis (CPA), or Aspergillus bronchitis...
  57. Jia D, Wang Y, Liu Y, Hu J, Guo Y, Gao L, et al. SMRT sequencing of full-length transcriptome of flea beetle Agasicles hygrophila (Selman and Vogt). Sci Rep. 2018;8:2197 pubmed publisher
    ..of clean reads were generated, including 335,045 reads of insert (ROI) and 158,085 full-length non-chimeric (FLNC) reads...
  58. Nozari A, Aghaei Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon M, Alavi A, et al. A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. Gene. 2018;659:160-167 pubmed publisher
    ..One novel gene introduced in 2016 for cardiac-restricted DCM is FLNC. In this study, we applied Whole Exome Sequencing (WES) and bioinformatics-based methods to a member of an extended ..
  59. Dong L, Liu H, Zhang J, Yang S, Kong G, Chu J, et al. Single-molecule real-time transcript sequencing facilitates common wheat genome annotation and grain transcriptome research. BMC Genomics. 2015;16:1039 pubmed publisher
    ..We obtained 197,709 full-length non-chimeric (FLNC) reads, 74.6 % of which were estimated to carry complete open reading frame...
  60. Cusack R, Sahadevan A, Lane S. Qualitative effects of omalizumab on concomitant IgE-mediated disease in a severe asthmatic population: a real life observational study. QJM. 2016;109:601-4 pubmed publisher
    ..IgE is also implicated in allergic-bronchopulmonary disease (ABPA). In addition, extreme sensitivity to allergen can prevent the initiation of allergen immunotherapy...
  61. Yang B, Liu Y, Zhao J, Hei K, Zhuang H, Li Q, et al. Ectopic overexpression of filamin C scaffolds MEK1/2 and ERK1/2 to promote the progression of human hepatocellular carcinoma. Cancer Lett. 2017;388:167-176 pubmed publisher
    ..In this study, a microarray-based analysis revealed a dramatic increase in filamin C (FLNC), which is commonly expressed in muscle rather than in liver cells, in the two metastatic HCC cell lines ..
  62. Huang C, Yu Q, Yuan X, Li Z, Wang J, Ye L, et al. Rubisco accumulation is important for the greening of the fln2-4 mutant in Arabidopsis. Plant Sci. 2015;236:185-94 pubmed publisher
    The fructokinase-like protein2 (FLN2) is a component of the PEP complex. FLN2 knockout mutants displayed a delayed greening phenotype on sucrose-containing medium...
  63. Oshikawa M, Sugai Y, Usami R, Ohtoko K, Toyama S, Kato S. Fine expression profiling of full-length transcripts using a size-unbiased cDNA library prepared with the vector-capping method. DNA Res. 2008;15:123-36 pubmed publisher
  64. Takada F, Vander Woude D, Tong H, Thompson T, Watkins S, Kunkel L, et al. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A. 2001;98:1595-600 pubmed
    ..Thus, myozenin is a skeletal muscle Z line protein that may be a good candidate gene for limb-girdle muscular dystrophy or other neuromuscular disorders. ..
  65. Frey N, Olson E. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. J Biol Chem. 2002;277:13998-4004 pubmed
    ..Calsarcins represent a novel family of sarcomeric proteins that serve as focal points for the interactions of an array of proteins involved in Z-disc structure and signal transduction in striated muscle. ..
  66. Sjekloća L, Pudas R, Sjöblom B, Konarev P, Carugo O, Rybin V, et al. Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. J Mol Biol. 2007;368:1011-23 pubmed
    b>Filamin C is a dimeric, actin-binding protein involved in organization of cortical cytoskeleton and of the sarcomere...
  67. Kley R, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven P, et al. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics. 2013;12:215-27 pubmed publisher
    Filaminopathy is a subtype of myofibrillar myopathy caused by mutations in FLNC, the gene encoding filamin C, and histologically characterized by pathologic accumulation of several proteins within skeletal muscle fibers...
  68. Fraczek M, Chishimba L, Niven R, Bromley M, Simpson A, Smyth L, et al. Corticosteroid treatment is associated with increased filamentous fungal burden in allergic fungal disease. J Allergy Clin Immunol. 2018;142:407-414 pubmed publisher
    ..Individuals receiving steroid therapy had significantly higher levels of Aspergillus and total fungus in their bronchoalveolar lavage. ..
  69. Perisson C, Destruys L, Grenet D, Bassinet L, Derelle J, Sermet Gaudelus I, et al. Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis. Respir Med. 2017;133:12-15 pubmed publisher
    Allergic bronchopulmonary aspergillosis (ABPA) is a severe lung disease complication caused by an Aspergillus fumigatus-induced hypersensitivity that affects 2-15% of patients with cystic fibrosis (CF)...
  70. Himmel M, van der Ven P, Stöcklein W, Furst D. The limits of promiscuity: isoform-specific dimerization of filamins. Biochemistry. 2003;42:430-9 pubmed
    ..This selectivity of dimerization might provide a further molecular explanation for the differential intracellular sorting of filamin isoforms and their distinct properties. ..
  71. Aurino S, Piluso G, Saccone V, Cacciottolo M, D Amico F, Dionisi M, et al. Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta Myol. 2008;27:90-7 pubmed
    ..We identified a large number of variations in any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated. ..
  72. Linnemann A, van der Ven P, Vakeel P, Albinus B, Simonis D, Bendas G, et al. The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. Eur J Cell Biol. 2010;89:681-92 pubmed publisher
    Here we introduce myopodin as a novel filamin C binding partner...
  73. Neale B, Medland S, Ripke S, Anney R, Asherson P, Buitelaar J, et al. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010;49:906-20 pubmed publisher
    ..The most significant results implicated the following genes: PRKG1, FLNC, TCERG1L, PPM1H, NXPH1, PPM1H, CDH13, HK1, and HKDC1...
  74. Pawlowski M, Saraswathi S, Motawea H, Chotani M, Kloczkowski A. In silico modeling of human α2C-adrenoreceptor interaction with filamin-2. PLoS ONE. 2014;9:e103099 pubmed publisher
    ..Phylogenetic and sequence analysis showed that these interactions have evolved in warm-blooded animals. ..
  75. Neethling A, Mouton J, Loos B, Corfield V, de Villiers C, Kinnear C. Filamin C: a novel component of the KCNE2 interactome during hypoxia. Cardiovasc J Afr. 2016;27:4-11 pubmed publisher
    ..Co-localisation and co-immunoprecipitation analyses were used for verification. Filamin C (FLNC) was identified as a putative interactor with KCNE2...
  76. Gomez J, Lorca R, Reguero J, Moris C, Martin M, Tranche S, et al. Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017;10: pubmed publisher
    Recent exome sequencing studies identified filamin C (FLNC) as a candidate gene for hypertrophic cardiomyopathy (HCM)...
  77. Muniz V, Silva J, Braga Y, Melo R, Ueki S, Takeda M, et al. Eosinophils release extracellular DNA traps in response to Aspergillus fumigatus. J Allergy Clin Immunol. 2017;: pubmed publisher
    ..fumigatus is an opportunistic fungus that may cause eosinophilic allergic bronchopulmonary aspergillosis (ABPA). It has been reported that eosinophils are important to the clearance of A fumigatus in infected mice lungs...
  78. Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell T, et al. A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. PLoS ONE. 2017;12:e0186642 pubmed publisher
    A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c...
  79. Murray J, Campbell D, Peggie M, Mora A, Alfonso M, Cohen P. Identification of filamin C as a new physiological substrate of PKBalpha using KESTREL. Biochem J. 2004;384:489-94 pubmed
    ..not by SGK1 (serum- and glucocorticoid-induced kinase 1), and identified it as the cytoskeletal protein FLNc (filamin C)...
  80. Tay T, Bosco J, Gillman A, Aumann H, Stirling R, O Hehir R, et al. Coexisting atopic conditions influence the likelihood of allergic bronchopulmonary aspergillosis in asthma. Ann Allergy Asthma Immunol. 2016;117:29-32.e1 pubmed publisher
    The diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in asthma is often made in patients with total serum IgE levels greater than 1,000 IU/mL in conjunction with evidence of Aspergillus sensitization...
  81. Suarez Cuartin G, Chalmers J, Sibila O. Diagnostic challenges of bronchiectasis. Respir Med. 2016;116:70-7 pubmed publisher
    ..Bronchiectasis related to allergic bronchopulmonary aspergillosis (ABPA), immunodeficiencies with antibody production deficiency, primary ciliary dyskinesia, cystic fibrosis and alpha-1-..
  82. Tanabe K, Shinsato Y, Furukawa T, Kita Y, Hatanaka K, Minami K, et al. Filamin C promotes lymphatic invasion and lymphatic metastasis and increases cell motility by regulating Rho GTPase in esophageal squamous cell carcinoma. Oncotarget. 2017;8:6353-6363 pubmed publisher
    ..We found that expression of FilaminC (FLNC), a member of the actin binding and cross-linking filamin protein family is correlated with lymphatic invasion and ..
  83. Adams A, Smith S, Truong D, Willcutt E, Olson R, DeFries J, et al. Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. Hum Genet. 2017;136:1395-1405 pubmed publisher
    ..Out of 148 total individual missense variants identified, the chromosome 7 genes CCDC136 and FLNC contained 19...
  84. Dyson J, O Malley C, Becanovic J, Munday A, Berndt M, Coghill I, et al. The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin. J Cell Biol. 2001;155:1065-79 pubmed
    ..the SHIP-2 proline-rich domain, yeast two-hybrid screening was performed, which isolated actin-binding protein filamin C. In addition, both filamin A and B specifically interacted with SHIP-2 in this assay...
  85. van der Ven P, Ehler E, Vakeel P, Eulitz S, Schenk J, Milting H, et al. Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. Exp Cell Res. 2006;312:2154-67 pubmed
    b>Filamin c is the predominantly expressed filamin isoform in striated muscles. It is localized in myofibrillar Z-discs, where it binds FATZ and myotilin, and in myotendinous junctions and intercalated discs...
  86. Claeys K, van der Ven P, Behin A, Stojkovic T, Eymard B, Dubourg O, et al. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol. 2009;117:293-307 pubmed publisher
    ..Immunohistochemistry showed that in MFM only a subset of Z-disc proteins, such as filamin C and its ligands myotilin and Xin, exhibited significant alterations in their localization, whereas other Z-disc ..
  87. Ehsan M, Jiang H, L Thomson K, Gehmlich K. When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies. J Muscle Res Cell Motil. 2017;38:303-316 pubmed publisher
    ..genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important ..
  88. Tucker N, McLellan M, Hu D, Ye J, Parsons V, Mills R, et al. Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. Circ Cardiovasc Genet. 2017;10: pubmed publisher
    ..of 5 affected members identified a single novel missense variant in a highly conserved residue of FLNC (filamin C; p.V2297M)...
  89. Fielitz J, van Rooij E, Spencer J, Shelton J, Latif S, van der Nagel R, et al. Loss of muscle-specific RING-finger 3 predisposes the heart to cardiac rupture after myocardial infarction. Proc Natl Acad Sci U S A. 2007;104:4377-82 pubmed
    ..These findings reveal an important role of MuRF3 in maintaining cardiac integrity and function after acute myocardial infarction and suggest that turnover of FHL2 and gamma-filamin contributes to this cardioprotective function of MuRF3. ..
  90. Liu Y, Belkina N, Shaw S. HIV infection of T cells: actin-in and actin-out. Sci Signal. 2009;2:pe23 pubmed publisher
    ..This complex role of cofilin may help to reconcile the paradox that actin polymerization promotes initial binding and fusion steps but inhibits some subsequent early postentry events. ..
  91. Parry M, Rose Zerilli M, Gibson J, Ennis S, Walewska R, Forster J, et al. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS ONE. 2013;8:e83244 pubmed publisher
    ..our WES and CN data we identified three mutated putative candidate genes targeted by 7q deletions (CUL1, EZH2 and FLNC), with FLNC positioned within the well-characterized 7q minimally deleted region...