Recombinant Human Filamin-C (FLNC), partial

1. we report a Chinese family suffering from filamin-C-related myofibrillar myopathy caused by a novel 15-bp deletion in exon 18 of the FLNC gene. PMID: 29866061
2. Mutation in FLNC was identified as Restrictive Cardiomyopathy - causing mutation. PMID: 27339502
3. a novel variant in FLNC was identified as pathogenic variant for familial Restrictive cardiomyopathy. PMID: 29212899
4. The study confirms that truncating variants on myofibrillar myopathies- causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. PMID: 28436997
5. Study found a novel splice-site mutation in FLNC gene (c.2389+1G>A) which co-segregated with all symptomatic individuals in the family with dilated cardiomyopathy (DCM). These results strongly suggest that the involvement of FLNC gene, due to haploinsufficiency, should be considered in familial cases with DCM, especially if accompanied with arrhythmia and increased incidence of sudden cardiac death. PMID: 29551499
6. Filamin C promotes lymphatic invasion and lymphatic metastasis and increases cell motility by regulating Rac1/cdc42 activites in esophageal squamous cell carcinoma. PMID: 28031525
7. Data show that the filamin C (FLNC) protein was significantly overexpressed with the development of hepatocellular carcinoma (HCC), which might play an important role in HCC invasion and metastasis. PMID: 27626164
8. Missense variant in FLNC gene is associated with reading disability. PMID: 28866788
9. suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family PMID: 29073160
10. This study therefore identifies both BAG3 reduction and autophagy promotion as potential therapies for FLNC(W2710X) myofibrillar myopathy, and identifies protein insufficiency due to sequestration, compounded by impaired autophagy, as the cause. PMID: 26969713
11. Biallelic variants in FLNC can cause congenital dilated cardiomyopathy. PMID: 27601210
12. Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death PMID: 27908349
13. a compelling evidence of the involvement of FLNC in the development of Hypertrophic Cardiomyopathy . Most of the FLNC variants were associated with mild forms ofHypertrophic Cardiomyopathy and a reduced penetrance PMID: 28356264
14. FLNC is a disease gene for autosomal-dominant Restrictive Cardiomyopathy and broadens the phenotype spectrum of filaminopathies. PMID: 26666891
15. The identification of Filamin C as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be involved in long-QT syndrome pathogenesis PMID: 26956495
16. Findings indicate a functional role of filamin C in cancers. PMID: 25577646
17. Mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial hypertrophic cardiomyopathy. PMID: 25351925
18. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly. PMID: 24963132
19. alpha2C-adrenoreceptor interaction with filamin-2 PMID: 25110951
20. Increased methylation levels of FLNC is associated with highly active Helicobacter pylori-related gastritis. PMID: 23292007
21. these studies extend previous findings to show that functional rescue of alpha2C-ARs is mediated through Rap1-filamin signaling. Perturbation of this signaling pathway may lead to alterations in alpha2C-AR trafficking and physiological function. PMID: 23864608
22. FLNC/filamin C mutations cause protein degradation in myofibrillar myopathy PMID: 23238331
23. We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans. PMID: 22131542
24. filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations. PMID: 21620354
25. We present a Chinese family with filaminopathy with progressive muscle weakness in all limbs with a deletion-insertion mutation in exon 18 of the filamin C PMID: 20417099
26. Accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle myopathies. PMID: 12480088
27. calpain 3 can cleave filamin C (FLNC); FLNC may be substrate for calpain 3, regulating protein-protein interactions with sarcoglycans PMID: 14506720
28. gamma filamin has one molecule, with predominantly beta secondary-structure elements, per asymmetric unit PMID: 15159586
29. results identify the muscle-specific isoform FLNc as a new physiological substrate for PKB PMID: 15461588
30. a mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy PMID: 15929027
31. These observations start to define the basis for PI3K regulation of filamin through LL5beta. PMID: 17174070
32. The crystal structure of domain 23 of filamin C showed that the protein adopts the expected immunoglobulin (Ig)-like fold. A dimer is formed by domain 24; domain 23 has little interactions with itself or with domain 24. PMID: 17379241
33. The mutant dimerization domain of filamin C is less stable and more susceptible to proteolysis. As a consequence, it does not dimerize properly and forms aggregates in vitro. PMID: 17412757
34. Taken together, our data suggest that p73alpha is sequestered in the cytoplasm by filamin A, thereby inhibiting its transcriptional activity. PMID: 17825253
35. filamin-C, a known component of striated muscle Z-lines, interacts with nebulette modules PMID: 17987659
36. Results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM. PMID: 19050726
37. Data show that in myofibrillar myopathies filamin C exhibites significant alterations in their localization. PMID: 19151983
38. A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls. PMID: 19472918

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HGNC: 3756

OMIM: 102565

KEGG: hsa:2318

STRING: 9606.ENSP00000327145

UniGene: Hs.58414