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https://www.readbyqxmd.com/read/29030401/a-comparison-of-whole-genome-sequencing-to-multigene-panel-testing-in-hypertrophic-cardiomyopathy-patients
#1
Allison L Cirino, Neal K Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark Weinfeld, Patrick O'Gara, Heidi L Rehm, Kalotina Machini, Matthew Lebo, Carrie Blout, Robert C Green, Calum A MacRae, Christine E Seidman, Carolyn Y Ho
BACKGROUND: As DNA sequencing costs decline, genetic testing options have expanded. Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multigene panels that have been the cornerstone of genetic testing. METHODS AND RESULTS: Forty-one patients with hypertrophic cardiomyopathy who had undergone targeted hypertrophic cardiomyopathy genetic testing (either multigene panel or familial variant test) were recruited into the MedSeq Project, a clinical trial of WGS...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29020406/new-insights-into-mitral-valve-dystrophy-a-filamin-a-genotype-phenotype-and-outcome-study
#2
Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan J J Aalberts, Simon Lecointe, Jean Mérot, Jonathan A Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca N Delling, Romain Capoulade, Albert J H Suurmeijer, David Milan, Russell A Norris, Roger Markwald, Elena Aikawa, Susan A Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noël Trochu, Robert A Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott
Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. Methods and results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive echocardiography focusing on mitral valve apparatus in comparison with control relatives...
September 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28986439/filamin-a-regulates-neutrophil-adhesion-production-of-reactive-oxygen-species-and-neutrophil-extracellular-trap-release
#3
Liisa M Uotila, Carla Guenther, Terhi Savinko, Timo A Lehti, Susanna C Fagerholm
Neutrophils are of fundamental importance in the early immune response and use various mechanisms to neutralize invading pathogens. They kill endocytosed pathogens by releasing reactive oxygen species in the phagosome and release neutrophil extracellular traps (NETs) into their surroundings to immobilize and kill invading micro-organisms. Filamin A (FlnA) is an important actin cross-linking protein that is required for cellular processes involving actin rearrangements, such cell migration. It has also been shown to negatively regulate integrin activation and adhesion...
October 6, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28983057/introducing-high-throughput-sequencing-into-mainstream-of-genetic-diagnosis-practice-in-inherited-platelet-disorders
#4
José M Bastida, Marĺa L Lozano, Rocĺo Benito, Kamila Janusz, Verónica Palma-Barqueros, Mónica Del Rey, Jesús M Hernández-Sánchez, Susana Riesco, Nuria Bermejo, Hermenegildo González-García, Agustín Rodriguez-Alén, Carlos Aguilar, Teresa Sevivas, Marĺa F López-Fernández, Anna E Marneth, Bert A van der Reijden, Neil V Morgan, Steve P Watson, Vicente Vicente, Jesús M Hernández-Rivas, José Rivera, José R González-Porras
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventive treatments. Until recently, this has been performed by Sanger sequencing of a limited number of candidate genes. High-throughput sequencing is revolutionizing genetic diagnosis of diseases, including bleeding disorders. We have designed a novel high-throughput sequencing platform to investigate the unknown molecular pathology in a cohort of 82 patients with inherited platelet disorders...
October 5, 2017: Haematologica
https://www.readbyqxmd.com/read/28980752/intermediate-filaments-and-cellular-mechanics
#5
REVIEW
Wolfgang H Goldmann
Intermediate filaments (IFs) are one of the three types of cytoskeletal polymers that resist tensile and compressive forces in cells. They crosslink each other as well as with actin filaments and microtubules by proteins, which include desmin, filamin C, plectin, and lamin (A/C). Mutations in these proteins can lead to a wide range of pathologies, some of which exhibit mechanical failure of the skin, skeletal, or heart muscle.
October 5, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28973524/liver-cyst-gene-knockout-in-cholangiocytes-inhibits-cilium-formation-and-wnt-signaling
#6
Edgar S Wills, René H M Te Morsche, Jeroen van Reeuwijk, Nicola Horn, Iris Geomini, Liyanne F M van de Laarschot, Dorus A Mans, Marius Ueffing, Karsten Boldt, Joost P H Drenth, Ronald Roepman
Mutations in the PRKCSH, SEC63, and LRP5 genes cause autosomal dominant polycystic liver disease (ADPLD). The proteins products of PRKCSH (alias GIIB) and SEC63 function in protein quality control and processing in the endoplasmic reticulum (ER), while LRP5 is implicated in Wnt/β-catenin signaling. To identify common denominators in the PLD pathogenesis, we mapped the PLD interactome by affinity proteomics, employing both HEK293T cells and H69 cholangiocytes. Identification of known complex members, such as glucosidase IIA (GIIA) for PRKCSH, and SEC61A1 and SEC61B for SEC63, confirmed the specificity of the analysis...
August 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28898549/filamin-a-flna-mutation-a-newcomer-to-the-childhood-interstitial-lung-disease-child-classification
#7
Susan C Shelmerdine, Thomas Semple, Colin Wallis, Paul Aurora, Shahin Moledina, Michael T Ashworth, Catherine M Owens
AIM: Interstitial lung disease (ILD) in infants represents a rare and heterogenous group of disorders, distinct from those occurring in adults. In recent years a new entity within this category is being recognized, namely filamin A (FLNA) mutation related lung disease. Our aims are to describe the clinical and radiological course of patients with this disease entity to aid clinicians in the prognostic counseling and management of similar patients they may encounter. METHOD: A retrospective case note review was conducted of all patients treated at our institution (a specialist tertiary referral childrens' center) for genetically confirmed FLNA mutation related lung disease...
October 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28872460/deficiency-in-kelch-protein-klhl31-causes-congenital-myopathy-in-mice
#8
James B Papizan, Glynnis A Garry, Svetlana Brezprozvannaya, John R McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N Olson
Maintenance of muscle structure and function depends on the precise organization of contractile proteins into sarcomeres and coupling of the contractile apparatus to the sarcoplasmic reticulum (SR), which serves as the reservoir for calcium required for contraction. Several members of the Kelch superfamily of proteins, which modulate protein stability as substrate-specific adaptors for ubiquitination, have been implicated in sarcomere formation. The Kelch protein Klhl31 is expressed in a muscle-specific manner under control of the transcription factor MEF2...
October 2, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28855378/adp-ribosylation-factor-like-4c-binding-to-filamin-a-modulates-filopodium-formation-and-cell-migration
#9
Tsai-Shin Chiang, Hsu-Feng Wu, Fang-Jen S Lee
Changes in cell morphology and the physical forces that occur during migration are generated by a dynamic filamentous actin cytoskeleton. The ADP-ribosylation factor-like 4C (Arl4C) small GTPase acts as a molecular switch to regulate morphological changes and cell migration, though the mechanism by which this occurs remains unclear. Here, we report that Arl4C functions with the actin regulator filamin-A (FLNa) to modulate filopodium formation and cell migration. We found that Arl4C interacted with FLNa in a GTP-dependent manner and that FLNa IgG repeat 22 is both required and sufficient for this interaction...
August 30, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28841465/design-of-a-nanocomposite-substrate-inducing-adult-stem-cell-assembly-and-progression-toward-an-epiblast-like-or-primitive-endoderm-like-phenotype-via-mechanotransduction
#10
Francesco Morena, Ilaria Armentano, Pia Montanucci, Chiara Argentati, Elena Fortunati, Simona Montesano, Ilaria Bicchi, Teresa Pescara, Ilaria Pennoni, Samantha Mattioli, Luigi Torre, Loredana Latterini, Carla Emiliani, Giuseppe Basta, Riccardo Calafiore, Josè Maria Kenny, Sabata Martino
This work shows that the active interaction between human umbilical cord matrix stem cells and Poly (l-lactide)acid (PLLA) and PLLA/Multi Walled Carbon Nanotubes (MWCNTs) nanocomposite films results in the stem cell assembly as a spheroid conformation and affects the stem cell fate transition. We demonstrated that spheroids directly respond to a tunable surface and the bulk properties (electric, dielectric and thermal) of plain and nanocomposite PLLA films by triggering a mechanotransduction axis. This stepwise process starts from tethering of the cells' focal adhesion proteins to the surface, together with the adherens junctions between cells...
August 16, 2017: Biomaterials
https://www.readbyqxmd.com/read/28834730/%C3%AE-actinin-induces-a-kink-in-the-transmembrane-domain-of-%C3%AE-3-integrin-and-impairs-activation-via-talin
#11
Hengameh Shams, Mohammad R K Mofrad
Integrin-mediated signaling is crucial for cell-substrate adhesion and can be triggered from both intra- and extracellular interactions. Although talin binding is sufficient for inside-out activation of integrin, other cytoplasmic proteins such as α-actinin and filamin can directly interfere with talin-mediated integrin activation. Specifically, α-actinin plays distinct roles in regulating αIIbβ3 versus α5β1 integrin. It has been shown that α-actinin competes with talin for binding to the cytoplasmic tail of β3-integrin, whereas it cooperates with talin for activating integrin α5β1...
August 22, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28827800/hspb7-prevents-cardiac-conduction-system-defect-through-maintaining-intercalated-disc-integrity
#12
Wern-Chir Liao, Liang-Yi Juo, Yen-Ling Shih, Yen-Hui Chen, Yu-Ting Yan
HSPB7 is a member of the small heat-shock protein (HSPB) family and is expressed in the cardiomyocytes from cardiogenesis onwards. A dramatic increase in HSPB7 is detected in the heart and blood plasma immediately after myocardial infarction. Additionally, several single-nucleotide polymorphisms of HSPB7 have been identified to be associated with heart failure caused by cardiomyopathy in human patients. Although a recent study has shown that HSPB7 is required for maintaining myofiber structure in skeletal muscle, its molecular and physiological functions in the heart remain unclear...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28821634/lipidomic-and-proteomic-analysis-of-exosomes-from-mouse-cortical-collecting-duct-cells
#13
Viet D Dang, Kishore Kumar Jella, Ragy R T Ragheb, Nancy D Denslow, Abdel A Alli
Exosomes are endosome-derived nanovesicles that are involved in cellular communication and signaling. Exosomes are produced by epithelial cells and are found in biologic fluids including blood and urine. The packaged material within exosomes includes proteins and lipids, but the molecular comparison within exosome subtypes is largely unknown. The purpose of this study was to investigate differences between exosomes derived from the apical plasma membrane and basolateral plasma membrane of polarized murine cortical collecting duct principal cells...
August 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28778075/enhanced-antitumor-effect-of-biodegradable-cationic-heparin-polyethyleneimine-nanogels-delivering-filip1l%C3%A2-c103-gene-combined-with-low-dose-cisplatin-on-ovarian-cancer
#14
Chuan Xie, Maling Gou, Tao Yi, Xiaorong Qi, Ping Liu, Yuquan Wei, Xia Zhao
FILIP1L∆C103 (COOH terminal truncation mutant 1-790 of Filamin A Interacting Protein 1-Like) has been identified to hold therapeutic potential for suppressing tumor growth. Cisplatin (DDP) is commonly used as a first-line drug in the treatment for ovarian cancer. The usage of polymeric nanoparticles to deliver functional genes intraperitoneally holds much promise as an effective therapy for ovarian cancer. In this study, a recombinant plasmid expressing FILIP1L∆C103 (FILIP1L∆C103-p) was constructed, and HPEI nanogels were prepared to deliver FILIP1L∆C103-p into SKOV3 cells...
July 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28768239/vinculin-and-filamin-c-are-two-potential-prognostic-biomarkers-and-therapeutic-targets-for-prostate-cancer-cell-migration
#15
Jianzhong Ai, Tao Jin, Lu Yang, Qiang Wei, Yang Yang, Hong Li, Ye Zhu
Prostate cancer (PCa) is one of the most common diseases for male population, and the effective treatment for metastatic castration-resistant PCa is still lacking. To unravel the underlying mechanism of PCa cell migration, we plan to analyze the related crucial proteins and their roles. In our study, we firstly identify the differentially expressed proteins using quantitative proteomics, and confirm their mRNA expression using quantitative polymerase chain reaction (qPCR). The alterations of these proteins at DNA and mRNA levels are obtained from cBioPortal database...
July 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#16
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28732005/filamin-actin-binding-and-titin-binding-fulfill-distinct-functions-in-z-disc-cohesion
#17
Nicanor González-Morales, Tristan K Holenka, Frieder Schöck
Many proteins contribute to the contractile properties of muscles, most notably myosin thick filaments, which are anchored at the M-line, and actin thin filaments, which are anchored at the Z-discs that border each sarcomere. In humans, mutations in the actin-binding protein Filamin-C result in myopathies, but the underlying molecular function is not well understood. Here we show using Drosophila indirect flight muscle that the filamin ortholog Cheerio in conjunction with the giant elastic protein titin plays a crucial role in keeping thin filaments stably anchored at the Z-disc...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28727243/filamin-a-expression-predicts-early-recurrence-of-hepatocellular-carcinoma-after-hepatectomy
#18
Matteo Donadon, Luca Di Tommaso, Cristiana Soldani, Barbara Franceschini, Alfonso Terrone, Antonio Mimmo, Eleonora Vitali, Massimo Roncalli, Andrea Lania, Guido Torzilli
BACKGROUND & AIMS: Recurrence of hepatocellular carcinoma (HCC) after hepatectomy is very high. A predictive marker of early recurrence (ER) capable of personalizing follow-up and developing a new target therapy would be beneficial. The overexpression of Filamin-A (FLNA), a cytoskeleton protein with scaffolding properties, has recently been associated with progression in tumours. The aim of this study was to test the expression of FLNA in a cohort of patients operated for HCC. METHODS: A retrospective cohort of patients who underwent hepatic resection at Humanitas Clinical and Research Center between January 2004 and December 2014 was analysed...
July 20, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28697756/proteomic-characterization-of-paired-non-malignant-and-malignant-african-american-prostate-epithelial-cell-lines-distinguishes-them-by-structural-proteins
#19
Jennifer S Myers, Karin A Vallega, Jason White, Kaixian Yu, Clayton C Yates, Qing-Xiang Amy Sang
BACKGROUND: While many factors may contribute to the higher prostate cancer incidence and mortality experienced by African-American men compared to their counterparts, the contribution of tumor biology is underexplored due to inadequate availability of African-American patient-derived cell lines and specimens. Here, we characterize the proteomes of non-malignant RC-77 N/E and malignant RC-77 T/E prostate epithelial cell lines previously established from prostate specimens from the same African-American patient with early stage primary prostate cancer...
July 11, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28687864/stressed-podocytes-mechanical-forces-sensors-signaling-and-response
#20
REVIEW
Karlhans Endlich, Felix Kliewe, Nicole Endlich
Increased glomerular capillary pressure (glomerular hypertension) and increased glomerular filtration rate (glomerular hyperfiltration) have been proven to cause glomerulosclerosis in animal models and are likely to be operative in patients. Since podocytes cover the glomerular basement membrane, they are exposed to tensile stress due to circumferential wall tension and to fluid shear stress arising from filtrate flow through the narrow filtration slits and through Bowman's space. In vitro evidence documents that podocytes respond to tensile stress as well as to fluid shear stress...
August 2017: Pflügers Archiv: European Journal of Physiology
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