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Filamin C, gamma

filamin C, FLNC
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Actin, Desmin, CAN, Cypher, alphaB-crystallin
Papers using filamin C antibodies
Transfecting mammalian cells: optimization of critical parameters affecting calcium-phosphate precipitate formation.
Cordes Nils, In PLoS ONE, 1995
... Monoclonal anti-FLNa (Chemicon), monoclonal anti-vinculin antibody (Sigma), monoclonal anti-Actin (Abcam) polyclonal anti-GFP (Rockland), polyclonal anti-FLNc (Kinasource), anti-CD29 (Dako, Via Real Carpinteria CA), ...
Papers on filamin C
Epigenetic profiling of gallbladder cancer and gall stone diseases: Evaluation of role of tumour associated genes.
Tiwari et al., Gwalior, India. In Gene, Mar 2016
MATERIALS AND METHODS: 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 respective adjacent control tissues.
Calorie restriction leads to greater Akt2 activity and glucose uptake by insulin-stimulated skeletal muscle from old rats.
Cartee et al., United States. In Am J Physiol Regul Integr Comp Physiol, Feb 2016
The most important results were that in isolated muscles, CR versus AL resulted in: 1) greater insulin-stimulated glucose uptake; 2) that was accompanied by significantly increased insulin-mediated activation of Akt2 as indicated by greater phosphorylation on both Thr(309) and Ser(474) along with greater Akt2 activity; 3) concomitant with enhanced phosphorylation of several Akt substrates, including Akt Substrate of 160 kDa on Thr(642) and Ser(588), filamin C on Ser(2213) and proline-rich Akt substrate of 40 kDa on Thr(246), but not TBC1D1 on Thr(596); and 4) each of the CR-effects was eliminated by MK-2206.
Slow recovery of the impaired fatigue resistance in postunloading mouse soleus muscle corresponding to decreased mitochondrial function and a compensatory increase in type I slow fibers.
Jin et al., Detroit, United States. In Am J Physiol Cell Physiol, Feb 2016
However, the fatigue resistance showed a trend of worsening during this period with significant infiltration of inflammatory cells at days 3 and 7, indicating reloading injuries that were accompanied by active regeneration with upregulations of filamin-C, αB-crystallin, and desmin.
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Schröder et al., Bonn, Germany. In Hum Mol Genet, Jan 2016
Filamin C (FLNC) mutations in humans cause myofibrillar myopathy (MFM) and cardiomyopathy, characterized by protein aggregation and myofibrillar degeneration.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Gerull et al., Calgary, Canada. In Hum Mutat, Jan 2016
Using next generation sequencing (NGS) we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an actin-crosslinking protein mainly expressed in heart and skeletal muscle, segregating in two families with autosomal dominant RCM.
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Clarke et al., Sydney, Australia. In Jama Neurol, Jan 2016
Less common myopathies included metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), myofibrillar myopathy (FLNC), and mutation of CHD7, usually associated with the CHARGE syndrome.
Heme-induced contractile dysfunction in Human cardiomyocytes caused by oxidant damage to thick filament proteins.
Balla et al., Debrecen, Hungary. In Free Radic Biol Med, Dec 2015
Partial restoration in the SH group content was observed in a protein running at 140kDa after treatment with dithiothreitol, but not in other proteins, such as filamin C, myosin heavy chain, cardiac myosin binding protein C, and α-actinin.
Systematic Identification of MicroRNAs That Impact on Proliferation of Prostate Cancer Cells and Display Changed Expression in Tumor Tissue.
Östling et al., Helsinki, Finland. In Eur Urol, Nov 2015
Seven genes, FLNC, MSRB3, PARVA, PCDH7, PRNP, RAB34, and SORBS1, showed an inverse association to their predicted miRNA, and were identified to significantly correlate with biochemical recurrence free survival in PCa patients.
Biomechanical characterization of myofibrillar myopathies.
Goldmann et al., Erlangen, Germany. In Cell Biol Int, Apr 2015
Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL-1, αB-crystallin, DNAJB6, myotilin, and ZASP.
Single-molecule real-time transcript sequencing facilitates common wheat genome annotation and grain transcriptome research.
Wang et al., Beijing, China. In Bmc Genomics, 2014
RESULTS: We obtained 197,709 full-length non-chimeric (FLNC) reads, 74.6 % of which were estimated to carry complete open reading frame.
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
Belgian Neurology (BELNEU) consortium et al., Antwerp, Belgium. In Acta Neuropathol Commun, 2014
Loss of TDP-43 in zebrafish engenders a severe muscle and vascular phenotype with a concomitant elevation of filamin C (FLNC) levels, an observation confirmed in the frontal cortex of FTLD-TDP patients.
Validation of proposed prostate cancer biomarkers with gene expression data: a long road to travel.
Pfeffer et al., Genova, Italy. In Cancer Metastasis Rev, 2014
The most interesting ones appeared to be claudin 3 (CLDN3) and alpha-methysacyl-CoA racemase highly expressed in prostate cancer and filamin C (FLNC) and keratin 5 with highest expression in normal prostate tissue.
[Myofibrillar myopaathy].
Hayashi, Tokyo, Japan. In Rinsho Shinkeigaku, 2012
Several causative genes have been identified such as DES, CRYAB, MYOT, ZASP, BAG3, FLNC, DNAJB6, FHL1, TTN, and VCP.
Myofibrillar myopathies.
Fardeau et al., Aachen, Germany. In Handb Clin Neurol, 2012
The causative genes encode mainly sarcomeric Z-disk(-related) proteins: desmin, αB-crystallin, myotilin, Z-band alternatively spliced PDZ motif containing protein (ZASP), filamin C and the antiapoptotic BCL2-associated athanogene 3 (Bag3).
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Jordanova et al., Sofia, Bulgaria. In Neurology, 2012
We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Laing et al., Perth, Australia. In Am J Hum Genet, 2011
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.
Myofibrillar myopathies.
Engel et al., Rochester, United States. In Handb Clin Neurol, 2010
To date, all MFM mutations have appeared in Z-disk-associated proteins: namely, desmin, αB-crystallin, myotilin, ZASP, filamin C, and Bag3.
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.
Yuan et al., Beijing, China. In Neuromuscul Disord, 2010
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
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Fürst et al., Paris, France. In Acta Neuropathol, 2009
Data show that in myofibrillar myopathies filamin C exhibites significant alterations in their localization.
Candidate-gene testing for orphan limb-girdle muscular dystrophies.
Nigro et al., Napoli, Italy. In Acta Myol, 2008
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.
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