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https://www.readbyqxmd.com/read/29316027/somatic-mutations-activating-wiskott-aldrich-syndrome-protein-concomitant-with-ras-pathway-mutations-in-juvenile-myelomonocytic-leukemia-patients
#1
A Coppe, L Nogara, M S Pizzuto, A Cani, S Cesaro, R Masetti, F Locatelli, G Te Kronnie, G Basso, S Bortoluzzi, S Bresolin
The WAS gene product is expressed exclusively in the cytoplasm of hematopoietic cells and constitutional genetic abrogation of WASP leads to Wiskott-Aldrich syndrome (WAS). Moreover, mutational activation of WASP has been associated with X-linked neutropenia (XLN). Although studies reported that patients with constitutional WAS mutations affecting functional WASP expression may present Juvenile MyeloMonocytic Lukemia (JMML)-like features, confounding differential diagnosis above all in the co-presence of mutated RAS, an activating somatic mutation of WASP has not been previously described in JMML patients...
January 7, 2018: Human Mutation
https://www.readbyqxmd.com/read/29248492/r-loops-cause-genomic-instability-in-wiskott-aldrich-syndrome-thelper-lymphocytes
#2
Koustav Sarkar, Seong-Su Han, Kuo-Kwang Wen, Hans D Ochs, Loïc Dupré, Michael M Seidman, Yatin M Vyas
BACKGROUND: Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), caused by WAS mutations affecting WASp expression or activity, manifest in immunodeficiency, autoimmunity, genomic-instability, and lymphoid-cancer. WASp supports filamentous-actin formation in the cytoplasm and gene-transcription in the nucleus. Although the genetic basis for XLT/WAS has been clarified, the relationships between mutant forms of WASp and the diverse features of these disorders remain ill-defined...
December 14, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29233863/cobl-like-promotes-actin-filament-formation-and-dendritic-branching-using-only-a-single-wh2-domain
#3
Maryam Izadi, Dirk Schlobinski, Maria Lahr, Lukas Schwintzer, Britta Qualmann, Michael M Kessels
Local actin filament formation powers the development of the signal-receiving arbor of neurons that underlies neuronal network formation. Yet, little is known about the molecules that drive these processes and may functionally connect them to the transient calcium pulses observed in restricted areas in the forming dendritic arbor. Here we demonstrate that Cordon-Bleu (Cobl)-like, an uncharacterized protein suggested to represent a very distantly related, evolutionary ancestor of the actin nucleator Cobl, despite having only a single G-actin-binding Wiskott-Aldrich syndrome protein Homology 2 (WH2) domain, massively promoted the formation of F-actin-rich membrane ruffles of COS-7 cells and of dendritic branches of neurons...
December 12, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29227167/diagnosis-of-platelet-function-disorders-a-standardized-rational-and-modular-flow-cytometric-approach
#4
Oliver Andres, Katja Henning, Gabriele Strauß, Annerose Pflug, Georgi Manukjan, Harald Schulze
A high proportion of patients with mucocutaneous bleeding diathesis and suspected inherited or acquired platelet disorder remain without diagnosis even after comprehensive laboratory testing. Since flow cytometry allows investigation of resting and activated platelets on the single cell level by requiring only minimal amounts of blood, this method has become an important assay within the diagnostic algorithm, especially in pediatrics. We therefore developed a standardized and modular flow cytometric approach that contributes to clarify impaired platelet function in a rational step-by-step manner...
December 11, 2017: Platelets
https://www.readbyqxmd.com/read/29220304/the-interaction-between-semantic-representation-and-episodic-memory
#5
Jing Fang, Naima Rüther, Christian Bellebaum, Laurenz Wiskott, Sen Cheng
The experimental evidence on the interrelation between episodic memory and semantic memory is inconclusive. Are they independent systems, different aspects of a single system, or separate but strongly interacting systems? Here, we propose a computational role for the interaction between the semantic and episodic systems that might help resolve this debate. We hypothesize that episodic memories are represented as sequences of activation patterns. These patterns are the output of a semantic representational network that compresses the high-dimensional sensory input...
December 8, 2017: Neural Computation
https://www.readbyqxmd.com/read/29215267/new-structural-insights-into-formation-of-the-key-actin-regulating-wip-wasp-complex-determined-by-nmr-and-molecular-imaging
#6
Adi Halle-Bikovski, Sophia Fried, Eva Rozentur-Shkop, Guy Biber, Hadassa Shaked, Noah Joseph, Mira Barda-Saad, Jordan H Chill
Wiskott-Aldrich syndrome protein (WASp) is exclusively expressed in hematopoietic cells and responsible for actin-dependent processes, including cellular activation, migration, and invasiveness. The C-terminal domain of WASp-Interacting Protein (WIP) binds to WASp and regulates its activity by shielding it from degradation in a phosphorylation dependent manner as we previously demonstrated. Mutations in the WAS-encoding gene lead to the primary immunodeficiencies Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT)...
December 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#7
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29200320/wiskott-aldrich-syndrome-two-case-reports-with-a-novel-mutation
#8
Karaman Kamuran, Mecnun Çetin, Hadi Geylan, Serap Karaman, Nihat Demir, Eyyup Yurekturk, İbrahim Yavuz, Göknur Yavuz, Oğuz Tuncer
BACKGROUND: The Wiskott-Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema. AIM: In this case report, we present our experience about two cases diagnosed with a new mutation. METHODS: We report phenotypical and laboratory description of two cases with WAS...
December 4, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29196075/outcomes-after-allogeneic-transplant-in-patients-with-wiskott-aldrich-syndrome
#9
Alexander Ngwube, I Celine Hanson, Jordan Orange, Nicholas L Rider, Filiz Seeborg, William Shearer, Lenora Noroski, Sarah Nicholas, Lisa Forbes, Kathryn Leung, Ghadir Sasa, Swati Naik, Meenakshi Hegde, Bilal Omer, Nabil Ahmed, Carl Allen, Stephen Gottschalk, Meng-Fen Wu, Hao Liu, Malcolm Brenner, Helen Heslop, Robert Krance, Caridad Martinez
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by a triad of immunodeficiency, eczema and thrombocytopenia. Currently, hematopoietic stem cell transplant (HSCT) is the most reliable curative treatment with excellent results for patients with HLA-matched family or unrelated donors. However, even after fully myeloablative preparative regimens, mixed donor chimerism is a potential concern. We performed a retrospective chart review of twelve children who underwent allogeneic hematopoietic stem cell transplant for WAS to report our experience...
November 28, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29172947/crosstalk-between-wip-and-rho-family-gtpases
#10
Inés M Antón, Carla Gómez-Oro, Sergio Rivas, Francisco Wandosell
Through actin-binding proteins such as the neural Wiskott-Aldrich syndrome protein (N-WASP) and WASP-interacting protein (WIP), the Rho family GTPases RhoA, Rac1 and Cdc42 are major modulators of the cytoskeleton. (N-)WASP and WIP control Rho GTPase activity in various cell types, either by direct WIP/(N-)WASP/Cdc42 or potential WIP/RhoA binding, or through secondary links that regulate GTPase distribution and/or transcription levels. WIP helps to regulate filopodium generation and participates in the Rac1-mediated ruffle formation that determines cell motility...
November 26, 2017: Small GTPases
https://www.readbyqxmd.com/read/29162704/tropomyosin-related-kinase-c-trkc-enhances-podocyte-migration-by-erk-mediated-wave2-activation
#11
Sascha Gromnitza, Carolin Lepa, Thomas Weide, Albrecht Schwab, Hermann Pavenstädt, Britta George
Podocyte malfunction is central to glomerular diseases and is marked by defective podocyte intercellular junctions and actin cytoskeletal dynamics. Podocytes share many morphologic features with neurons, so that similar sets of proteins appear to regulate cell process formation. One such protein is the tropomyosin-related kinase C (TrkC). TrkC deficiency in mice leads to proteinuria as a surrogate of defective kidney filter function. Activation of endogenous TrkC by its ligand neurotrophin-3 resulted in increased podocyte migration-a surrogate of podocyte actin dynamics in vivo Employing a mutagenesis approach, we found that the Src homologous and collagen-like (Shc) binding site Tyr(516) within the TrkC cytoplasmic domain was necessary for TrkC-induced migration of podocytes...
November 21, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29150539/ros-and-glutathionylation-balance-cytoskeletal-dynamics-in-neutrophil-extracellular-trap-formation
#12
Darko Stojkov, Poorya Amini, Kevin Oberson, Christiane Sokollik, Andrea Duppenthaler, Hans-Uwe Simon, Shida Yousefi
The antimicrobial defense activity of neutrophils partly depends on their ability to form neutrophil extracellular traps (NETs), but the underlying mechanism controlling NET formation remains unclear. We demonstrate that inhibiting cytoskeletal dynamics with pharmacological agents or by genetic manipulation prevents the degranulation of neutrophils and mitochondrial DNA release required for NET formation. Wiskott-Aldrich syndrome protein-deficient neutrophils are unable to polymerize actin and exhibit a block in both degranulation and DNA release...
November 17, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29146903/wiskott-aldrich-syndrome-protein-regulates-autophagy-and-inflammasome-activity-in-innate-immune-cells
#13
Pamela P Lee, Damián Lobato-Márquez, Nayani Pramanik, Andrea Sirianni, Vanessa Daza-Cajigal, Elizabeth Rivers, Alessia Cavazza, Gerben Bouma, Dale Moulding, Kjell Hultenby, Lisa S Westerberg, Michael Hollinshead, Yu-Lung Lau, Siobhan O Burns, Serge Mostowy, Mona Bajaj-Elliott, Adrian J Thrasher
Dysregulation of autophagy and inflammasome activity contributes to the development of auto-inflammatory diseases. Emerging evidence highlights the importance of the actin cytoskeleton in modulating inflammatory responses. Here we show that deficiency of Wiskott-Aldrich syndrome protein (WASp), which signals to the actin cytoskeleton, modulates autophagy and inflammasome function. In a model of sterile inflammation utilizing TLR4 ligation followed by ATP or nigericin treatment, inflammasome activation is enhanced in monocytes from WAS patients and in WAS-knockout mouse dendritic cells...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29127144/disruption-of-thrombocyte-and-t-lymphocyte-development-by-a-mutation-in-arpc1b
#14
Raz Somech, Atar Lev, Yu Nee Lee, Amos J Simon, Ortal Barel, Ginette Schiby, Camila Avivi, Iris Barshack, Michele Rhodes, Jiejing Yin, Minshi Wang, Yibin Yang, Jennifer Rhodes, Nufar Marcus, Ben-Zion Garty, Jerry Stein, Ninette Amariglio, Gideon Rechavi, David L Wiest, Yong Zhang
Regulation of the actin cytoskeleton is crucial for normal development and function of the immune system, as evidenced by the severe immune abnormalities exhibited by patients bearing inactivating mutations in the Wiskott-Aldrich syndrome protein (WASP), a key regulator of actin dynamics. WASP exerts its effects on actin dynamics through a multisubunit complex termed Arp2/3. Despite the critical role played by Arp2/3 as an effector of WASP-mediated control over actin polymerization, mutations in protein components of the Arp2/3 complex had not previously been identified as a cause of immunodeficiency...
December 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29115573/fibroblast-activation-protein-%C3%AE-promotes-the-growth-and-migration-of-lung-cancer-cells-via-the-pi3k-and-sonic-hedgehog-pathways
#15
Jun Jia, Tracey A Martin, Lin Ye, Lin Meng, Nan Xia, Wen G Jiang, Xiaodong Zhang
A characteristic of the epithelial-to-mesenchymal transition in cancer cells is the upregulation of mesenchymal markers. Fibroblast activation protein α (FAPα) is predominantly expressed by stromal fibroblasts. Previous studies have demonstrated that FAPα is also expressed by certain epithelium-derived cancer cells and is involved in the regulation of certain signaling pathways. One of our previous studies showed that FAPα promoted the proliferation of breast cancer cells via the phosphatidylinositol-3-kinase (PI3K) signaling pathway...
October 27, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29100377/secreted-gelsolin-desensitizes-and-induces-apoptosis-of-infiltrated-lymphocytes-in-prostate-cancer
#16
Chun-Chi Chen, Shiow-Her Chiou, Cheng-Lin Yang, Kuan-Chih Chow, Tze-Yi Lin, Hui-Wen Chang, Weir-Chiang You, Hisu-Wen Huang, Chien-Min Chen, Nien-Cheng Chen, Fen-Pi Chou, Ming-Chih Chou
Loss of immunosurveillance is a major cause of cancer progression. Here, we demonstrate that gelsolin, a constituent of ejaculate, induces apoptosis of activated lymphocytes in prostate cancer. Gelsolin was highly expressed in prostate cancer cells, and was associated with tumor progression, recurrence, metastasis, and poor prognosis. In vitro, secreted gelsolin inactivated CD4(+) T cells by binding to CD37, and induced apoptosis of activated CD8(+) T lymphocytes by binding to Fas ligand during cell contact dependent on major histocompatibility complex I...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29078804/nuclear-wiskott-aldrich-syndrome-protein-co-regulates-t-cell-factor-1-mediated-transcription-in-t-cells
#17
Nikolai V Kuznetsov, Bader Almuzzaini, Joanna S Kritikou, Marisa A P Baptista, Mariana M S Oliveira, Marton Keszei, Scott B Snapper, Piergiorgio Percipalle, Lisa S Westerberg
BACKGROUND: The Wiskott-Aldrich syndrome protein (WASp) family of actin-nucleating factors are present in the cytoplasm and in the nucleus. The role of nuclear WASp for T cell development remains incompletely defined. METHODS: We performed WASp chromatin immunoprecipitation and deep sequencing (ChIP-seq) in thymocytes and spleen CD4+ T cells. RESULTS: WASp was enriched at genic and intergenic regions and associated with the transcription start sites of protein-coding genes...
October 27, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29023566/cardiac-leiomodin2-binds-to-the-sides-of-actin-filaments-and-regulates-the-atpase-activity-of-myosin
#18
Dávid Szatmári, Beáta Bugyi, Zoltán Ujfalusi, László Grama, Réka Dudás, Miklós Nyitrai
Leiomodin proteins are vertebrate homologues of tropomodulin, having a role in the assembly and maintenance of muscle thin filaments. Leiomodin2 contains an N-terminal tropomodulin homolog fragment including tropomyosin-, and actin-binding sites, and a C-terminal Wiskott-Aldrich syndrome homology 2 actin-binding domain. The cardiac leiomodin2 isoform associates to the pointed end of actin filaments, where it supports the lengthening of thin filaments and competes with tropomodulin. It was recently found that cardiac leiomodin2 can localise also along the length of sarcomeric actin filaments...
2017: PloS One
https://www.readbyqxmd.com/read/29022901/bcr-abl1-induced-downregulation-of-wasp-in-chronic-myeloid-leukemia-involves-epigenetic-modification-and-contributes-to-malignancy
#19
Welbert O Pereira, Daniel D De Carvalho, Maria Emilia Zenteno, Beatriz F Ribeiro, Jacqueline F Jacysyn, Luiz R Sardinha, Maria A Zanichelli, Nelson Hamerschlak, Gareth E Jones, Katia B Pagnano, Fabiola A Castro, Yolanda Calle, Gustavo P Amarante-Mendes
Chronic myeloid leukemia (CML) is a myeloproliferative disease caused by the BCR-ABL1 tyrosine kinase (TK). The development of TK inhibitors (TKIs) revolutionized the treatment of CML patients. However, TKIs are not effective to those at advanced phases when amplified BCR-ABL1 levels and increased genomic instability lead to secondary oncogenic modifications. Wiskott-Aldrich syndrome protein (WASP) is an important regulator of signaling transduction in hematopoietic cells and was shown to be an endogenous inhibitor of the c-ABL TK...
October 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29022827/descending-aortic-aneurysm-in-wiskott-aldrich-syndrome-options-for-repair
#20
Greta Wood, Karen Booth, Zahid Khan, Tina Biss, Chandrika Roysam, John Dark
We report open surgical repair of a previously stented descending thoracic aneurysm in a patient with Wiskott-Aldrich syndrome and a platelet count <10 × 10(9)·L(-1). The same patient was described previously in a report of the first endovascular stent in this form of vasculitis. We describe the pre- and intraoperative management, and suggest a change in strategy in this setting.
January 1, 2017: Asian Cardiovascular & Thoracic Annals
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