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https://www.readbyqxmd.com/read/28205584/a-postnatal-role-for-embryonic-myosin-revealed-by-myh3-mutations-that-alter-tgf%C3%AE-signaling-and-cause-autosomal-dominant-spondylocarpotarsal-synostosis
#1
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, Kimberly N Forlenza, Jorge H Martin, Kelly Heard, Dorothy K Grange, Merlin G Butler, Tjitske Kleefstra, Ralph S Lachman, Deborah Nickerson, Michael Regnier, Daniel H Cohn, Michael Bamshad, Deborah Krakow
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28202730/liquid-behavior-of-cross-linked-actin-bundles
#2
Kimberly L Weirich, Shiladitya Banerjee, Kinjal Dasbiswas, Thomas A Witten, Suriyanarayanan Vaikuntanathan, Margaret L Gardel
The actin cytoskeleton is a critical regulator of cytoplasmic architecture and mechanics, essential in a myriad of physiological processes. Here we demonstrate a liquid phase of actin filaments in the presence of the physiological cross-linker, filamin. Filamin condenses short actin filaments into spindle-shaped droplets, or tactoids, with shape dynamics consistent with a continuum model of anisotropic liquids. We find that cross-linker density controls the droplet shape and deformation timescales, consistent with a variable interfacial tension and viscosity...
February 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28176162/somatostatin-receptor-ligands-in-the-treatment-of-acromegaly
#3
REVIEW
Monica R Gadelha, Luiz Eduardo Wildemberg, Marcello D Bronstein, Federico Gatto, Diego Ferone
First-generation somatostatin receptors ligands (SRL) are the mainstay in the medical treatment of acromegaly, however the percentage of patients controlled with these drugs significantly varies in the different studies. Many factors are involved in the resistance to SRL. In this review, we update the physiology of somatostatin and its receptors (sst), the use of SRL in the treatment of acromegaly and the factors involved in the response to these drugs. The SRL act through interaction with the sst, which up to now have been characterized as five subtypes...
February 7, 2017: Pituitary
https://www.readbyqxmd.com/read/28145583/structural-analysis-of-g1691s-variant-in-the-human-filamin-b-gene-responsible-for-larsen-syndrome-a-comparative-computational-approach
#4
Sneha P, Thirumal Kumar D, Himani Tanwar, Siva R, George Priya Doss C, Hatem Zayed
Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants in the Filamin B (FLNB) gene are associated with the development of LRS. We searched two literature databases (OMIM and PubMed) and three gene variant databases (HGMD, UniProt, & dbSNP) to capture all the possible variants associated with LRS phenotype, which may have an impact on the FLNB function...
February 1, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28145000/filamin-b-loss-of-function-mutation-in-dimerization-domain-causes-autosomal-recessive-spondylocarpotarsal-synostosis-syndrome-with-rib-anomalies
#5
Chi-Fan Yang, Chung-Hsing Wang, Weng Siong H'ng, Chun-Ping Chang, Wei- De Lin, Yuan-Tsong Chen, Jer-Yuarn Wu, Fuu-Jen Tsai
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in FLNB and MYH3 have been reported for autosomal recessive and autosomal dominant SCT, respectively. We present a family with two patients suffering from autosomal recessive SCT with rib anomalies, including malalignment, crowding, and uneven size and shape of ribs...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28137667/identification-of-novel-autoantigens-via-mass-spectroscopy-based-antibody-mediated-identification-of-autoantigens-ms-amida-using-immune-thrombocytopenic-purpura-itp-as-a-model-disease
#6
Julian Kamhieh-Milz, Viktor Sterzer, Hatice Celik, Omid Khorramshahi, Reham Fadl Hassan Moftah, Abdulgabar Salama
Immune thrombocytopenic purpura (ITP) is one of the best characterized autoimmune diseases. Autoantibodies (AABs) against platelet antigens are considered as the diagnostic hallmark of ITP, but are detectable in only 50% of patients. We designed and applied a novel proteomic approach termed Mass Spectroscopy-based Antibody-Mediated Identification of Autoantigens (MS-AMIDA) for platelet antigens. Patients were separated into patients with classical AABs [ITP(+)] and patients without AABs [ITP(-)]. Altogether, 181 potential AAGs were found in ITP(+) and 135 AAGs in ITP(-), with 34 and 23 AAGs reproducibly found in two runs of MS-AMIDA...
January 27, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28122209/mechanochemical-signaling-directs-cell-shape-change
#7
REVIEW
Eric S Schiffhauer, Douglas N Robinson
For specialized cell function, as well as active cell behaviors such as division, migration, and tissue development, cells must undergo dynamic changes in shape. To complete these processes, cells integrate chemical and mechanical signals to direct force production. This mechanochemical integration allows for the rapid production and adaptation of leading-edge machinery in migrating cells, the invasion of one cell into another during cell-cell fusion, and the force-feedback loops that ensure robust cytokinesis...
January 24, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28111298/aerosol-from-tobacco-heating-system-2-2-has-reduced-impact-on-mouse-heart-gene-expression-compared-with-cigarette-smoke
#8
Justyna Szostak, Stéphanie Boué, Marja Talikka, Emmanuel Guedj, Florian Martin, Blaine Phillips, Nikolai V Ivanov, Manuel C Peitsch, Julia Hoeng
Experimental studies clearly demonstrate a causal effect of cigarette smoking on cardiovascular disease. To reduce the individual risk and population harm caused by smoking, alternative products to cigarettes are being developed. We recently reported on an apolipoprotein E-deficient (Apoe(-/-)) mouse inhalation study that compared the effects of exposure to aerosol from a candidate modified risk tobacco product, Tobacco Heating System 2.2 (THS2.2), and smoke from the reference cigarette (3R4F) on pulmonary and vascular biology...
January 19, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28072528/triosephosphate-isomerase-and-filamin-c-share-common-epitopes-as-novel-allergens-of-procambarus-clarkii
#9
Yang Yang, Yong-Xia Zhang, Meng Liu, Soheila J Maleki, Ming-Li Zhang, Qing-Mei Liu, Min-Jie Cao, Wen-Jin Su, Guang-Ming Liu
Triosephosphate isomerase (TIM) is a key enzyme in glycolysis and has been identified as an allergen in saltwater products. In this study, TIM with a molecular mass of 28 kDa was purified from the freshwater crayfish (Procambarus clarkii) muscle. A 90-kDa protein that showed IgG/IgE cross-reactivity with TIM was purified and identified as filamin C (FLN c), which is an actin-binding protein. TIM showed similar thermal and pH stability with better digestion resistance compared with FLN c. The result of the surface plasmon resonance (SPR) experiment demonstrated the infinity of anti-TIM polyclonal antibody (pAb) to both TIM and FLN c...
February 1, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28031525/filamin-c-promotes-lymphatic-invasion-and-lymphatic-metastasis-and-increases-cell-motility-by-regulating-rho-gtpase-in-esophageal-squamous-cell-carcinoma
#10
Kan Tanabe, Yoshinari Shinsato, Tatsuhiko Furukawa, Yoshiaki Kita, Kazuhito Hatanaka, Kentaro Minami, Kohichi Kawahara, Masatatsu Yamamoto, Kenji Baba, Shinichiro Mori, Yasuto Uchikado, Kosei Maemura, Akihide Tanimoto, Shoji Natsugoe
To establish treatments to improve the prognosis of cancer patients, it is necessary to find new targets to control metastasis. 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 lymphatic metastasis in esophageal squamous cell carcinoma (ESCC) by increasing cell motility through activation of Rho GTPase.Immunohistochemistry analysis showed that FLNC expression in ESCC is associated with lymphatic invasion, metastasis, and prognosis...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28031322/extranuclear-partners-of-androgen-receptor-at-the-crossroads-of-proliferation-migration-and-neuritogenesis
#11
REVIEW
Gabriella Castoria, Ferdinando Auricchio, Antimo Migliaccio
In this review, we focus on the role played by the protein partners of ligand-activated extranuclear androgen receptor (AR) in the final effects of hormone action, such as proliferation, migration and neuritogenesis. The choice of AR partner, at least in part, depends on cell type. Androgen-activated receptor directly associates with cytoplasmic Src tyrosine kinase in epithelial cells, whereas in mesenchymal and neuronal cells, it prevalently interacts with filamin A. In the former, proliferation represents the final hormonal outcome, whereas in the latter, either migration or neuritogenesis, respectively, occur...
December 28, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28028127/myofibrillar-z-discs-are-a-protein-phosphorylation-hot-spot-with-pkc-%C3%AE-modulating-protein-dynamics
#12
Lena Reimann, Heike Wiese, Yvonne Leber, Anja N Schwäble, Anna L Fricke, Anne Rohland, Bettina Knapp, Christian D Peikert, Friedel Drepper, Peter F M van der Ven, Gerald Radziwill, Dieter O Fürst, Bettina Warscheid
The Z-disc is a protein-rich structure critically important for the development and integrity of myofibrils, which are the contractile organelles of cross-striated muscle cells. We here used mouse C2C12 myoblast which were differentiated into myotubes followed by electrical pulse stimulation (EPS) to generate contracting myotubes comprising mature Z-discs. Using a quantitative proteomics approach, we analyzed changes in the relative abundance of 2,588 proteins, of which 387 were significantly regulated in myoblasts versus myotubes...
December 27, 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28008423/flnc-gene-splice-mutations-cause-dilated-cardiomyopathy
#13
Rene L Begay, Charles A Tharp, August Martin, Sharon L Graw, Gianfranco Sinagra, Daniela Miani, Mary E Sweet, Dobromir B Slavov, Neil Stafford, Molly J Zeller, Rasha Alnefaie, Teisha J Rowland, Francesca Brun, Kenneth L Jones, Katherine Gowan, Luisa Mestroni, Deborah M Garrity, Matthew R G Taylor
OBJECTIVE: To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. BACKGROUND: DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. METHODS: We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing...
August 2016: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/27919788/ectopic-overexpression-of-filamin-c-scaffolds-mek1-2-and-erk1-2-to-promote-the-progression-of-human-hepatocellular-carcinoma
#14
Baicai Yang, Yun Liu, Jie Zhao, Kaiwen Hei, Hao Zhuang, Qiang Li, Wen Wei, Ruibing Chen, Ning Zhang, Yongmei Li
Hepatocellular carcinoma (HCC) invasion and metastasis are mediated by a complicated signal transduction network and downstream cytoskeletal and adhesion molecules. 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 MHCC97L and HCCLM3. Clinicopathological studies showed that increased FLNC expression was associated with microvascular invasion and poor prognosis. Specific hypomethylation was identified within the FLNC promoter region in HCC cell lines and patient tumor samples, which might contribute to the ectopic overexpression of FLNC...
December 3, 2016: Cancer Letters
https://www.readbyqxmd.com/read/27914199/filamin-a-synaptic-organizer-in-drosophila-determines-glutamate-receptor-composition-and-membrane-growth
#15
GaYoung Lee, Thomas L Schwarz
Filamin is a scaffolding protein that functions in many cells as an actin-crosslinker. FLN90, an isoform of the Drosophila ortholog Filamin/cheerio that lacks the actin-binding domain, is here shown to govern the growth of postsynaptic membrane folds and the composition of glutamate receptor clusters at the larval neuromuscular junction. Genetic and biochemical analyses revealed that FLN90 is present surrounding synaptic boutons. FLN90 is required in the muscle for localization of the kinase dPak and, downstream of dPak, for localization of the GTPase Ral and the exocyst complex to this region...
December 3, 2016: ELife
https://www.readbyqxmd.com/read/27911816/rapid-emergence-and-mechanisms-of-resistance-by-u87-glioblastoma-cells-to-doxorubicin-in-an-in-vitro-tumor-microfluidic-ecology
#16
Jeonghun Han, Yukyung Jun, So Hyun Kim, Hong-Hoa Hoang, Yeonjoo Jung, Suyeon Kim, Jaesang Kim, Robert H Austin, Sanghyuk Lee, Sungsu Park
In vitro prediction of the probable rapid emergence of resistance to a drug in tumors could act to winnow out potential candidates for further costly development. We have developed a microfluidic device consisting of ∼500 hexagonal microcompartments that provides a complex ecology with wide ranges of drug and nutrient gradients and local populations. This ecology of a fragmented metapopulation induced the drug resistance in stage IV U87 glioblastoma cells to doxorubicin in 7 d. Exome and transcriptome sequencing of the resistant cells identified mutations and differentially expressed genes...
December 13, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27909248/regulation-of-chemokine-receptor-ccr2-recycling-by-filamin-a-phosphorylation
#17
Mònica Pons, Ismael Izquierdo, Mireia Andreu-Carbó, Georgina Garrido, Jesús Planagumà, Olivia Muriel, M Isabel Geli, Anna M Aragay
Proper endosomal trafficking of ligand-activated G protein-coupled receptors (GPCRs) is essential to spatiotemporally tune their physiological responses. For the monocyte chemoattractant receptor 2 (CCR2B), endocytic recycling is important to sustain monocyte migration; while filamin A (FLNa) is essential for CCL2-induced monocyte migration. Here, we analyze the role of FLNa in the trafficking of CCR2B along the endocytic pathway. In FLNa knockdown cells, activated CCR2B accumulated in enlarged EEA-1-positive endosomes, which exhibited slow movement and fast fluorescence recovery, suggesting an imbalance between receptor entry and exit rates...
December 1, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27908350/truncating-variants-in-filamin-c-the-challenges-of-genotype-phenotype-correlations-in%C3%A2-cardiomyopathies
#18
EDITORIAL
Upasana Tayal, Stuart A Cook
No abstract text is available yet for this article.
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#19
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: 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. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27899394/stress-activated-kinase-mkk7-governs-epigenetics-of-cardiac-repolarization-for-arrhythmia-prevention
#20
Sanjoy K Chowdhury, Wei Liu, Min Zi, Yatong Li, Shunyao Wang, Hoyee Tsui, Sukhpal Prehar, Simon J Castro, Henggui Zhang, Yong Ji, Xiuqin Zhang, Rui-Ping Xiao, Rongli Zhang, Ming Lei, Lukas Cyganek, Kaomei Guan, Catherine B Millar, Xudong Liao, Mukesh K Jain, Mark R Boyett, Elizabeth J Cartwright, Holly A Shiels, Xin Wang
BACKGROUND: -Ventricular arrhythmia is a leading cause of cardiac mortality. Most antiarrhythmics present paradoxical pro-arrhythmic side effects, culminating in a greater risk of sudden death. METHODS: -We describe a new regulatory mechanism linking mitogen-activated kinase kinase-7 (MKK7) deficiency with increased arrhythmia vulnerability in hypertrophied and failing hearts using mouse models harbouring MKK7 knockout or overexpression. The human relevance of this arrhythmogenic mechanism is evaluated in human induced pluripotent stem cells-derived cardiomyocytes (iPSC-CMs)...
November 29, 2016: Circulation
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