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Wiskott-Aldrich

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https://read.qxmd.com/read/30697796/yes-associated-protein-promotes-cell-migration-via-activating-wiskott-aldrich-syndrome-protein-family-member-1-in-oral-squamous-cell-carcinoma
#1
Qi Lei, Chaoji Shi, Jiayi Li, Shengming Xu, Yong Han, Jiang Li, Lei Zhang
BACKGROUND: Yes-associated protein (YAP) is a candidate oncogene in various cancers including oral squamous cell carcinoma (OSCC). Our previous study demonstrated that TNF-alpha could inhibit cell proliferation and invasion by YAP phosphorylation in OSCC. However, the role of YAP in OSCC is not yet clear. The objective of the present study was to elucidate the function of YAP in promoting migration in OSCC and to explore the possible mechanism with a novel YAP inhibitor CA3. METHODS: A total of 68 OSCC patients were enrolled and the expression levels of YAP were investigated in tissue specimens by immunohistochemical staining...
January 29, 2019: Journal of Oral Pathology & Medicine
https://read.qxmd.com/read/30671311/crispr-cas9-mediated-deletion-of-the-wiskott-aldrich-syndrome-locus-causes-actin-cytoskeleton-disorganization-in-murine-erythroleukemia-cells
#2
Vanessa Fernández-Calleja, María-José Fernández-Nestosa, Pablo Hernández, Jorge B Schvartzman, Dora B Krimer
Wiskott-Aldrich syndrome (WAS) is a recessive X-linked inmmunodeficiency caused by loss-of-function mutations in the gene encoding the WAS protein (WASp). WASp plays an important role in the polymerization of the actin cytoskeleton in hematopoietic cells through activation of the Arp2/3 complex. In a previous study, we found that actin cytoskeleton proteins, including WASp, were silenced in murine erythroleukemia cells defective in differentiation. Here, we designed a CRISPR/Cas9 strategy to delete a 9.5-kb genomic region encompassing the Was gene in the X chromosome of murine erythroleukemia (MEL) cells...
2019: PeerJ
https://read.qxmd.com/read/30638962/rickettsia-sca2-recruits-two-actin-subunits-for-nucleation-but-lacks-wh2-domains
#3
Saif S Alqassim, In-Gyun Lee, Roberto Dominguez
The Rickettsia ∼1800-amino-acid autotransporter protein surface cell antigen 2 (Sca2) promotes actin polymerization on the surface of the bacterium to drive its movement using an actin comet-tail mechanism. Sca2 mimics eukaryotic formins in that it promotes both actin filament nucleation and elongation and competes with capping protein to generate filaments that are long and unbranched. However, despite these functional similarities, Sca2 is structurally unrelated to eukaryotic formins and achieves these functions through an entirely different mechanism...
December 18, 2018: Biophysical Journal
https://read.qxmd.com/read/30571746/regulation-of-gastric-smooth-muscle-contraction-via-ca2-dependent-and-ca2-independent-actin-polymerization
#4
Sunila Mahavadi, Ancy D Nalli, Hongxia Wang, Derek M Kendig, Molly S Crowe, Vijay Lyall, John R Grider, Karnam S Murthy
In gastrointestinal smooth muscle, acetylcholine induced muscle contraction is biphasic, initial peak followed by sustained contraction. Contraction is regulated by phosphorylation of 20 kDa myosin light chain (MLC) at Ser19, interaction of actin and myosin, and actin polymerization. The present study characterized the signaling mechanisms involved in actin polymerization during initial and sustained muscle contraction in response to muscarinic M3 receptor activation in gastric smooth muscle cells by targeting the effectors of initial (phospholipase C (PLC)-β/Ca2+ pathway) and sustained (RhoA/focal adhesion kinase (FAK)/Rho kinase pathway) contraction...
2018: PloS One
https://read.qxmd.com/read/30564228/rapid-multiplexed-proteomic-screening-for-primary-immunodeficiency-disorders-from-dried-blood-spots
#5
Christopher J Collins, Irene J Chang, Sunhee Jung, Remwilyn Dayuha, Jeffrey R Whiteaker, Gesmar R S Segundo, Troy R Torgerson, Hans D Ochs, Amanda G Paulovich, Si Houn Hahn
Background: Primary immunodeficiency disorders (PIDD) comprise a group of life-threatening congenital diseases characterized by absent or impaired immune responses. Despite the fact that effective, curative treatments are available with optimal clinical outcomes when diagnosed early, newborn screening does not exist for the majority of these diseases due to the lack of detectable, specific biomarkers or validated methods for population-based screening. Peptide immunoaffinity enrichment coupled with selected reaction monitoring mass spectrometry (immuno-SRM) is a sensitive proteomic assay, involving antibody-mediated peptide capture, that allows for concurrent quantification of multiple analytes...
2018: Frontiers in Immunology
https://read.qxmd.com/read/30549999/identification-of-a-novel-gene-mutation-in-a-chinese-pedigree-with-x-linked-thrombocytopenia
#6
Jing-Wen Zhang, Yu-Xuan Luo, Yan-Ling Yang, Bing Long, Ying Lu, Xiang-Zhong Zhang
BACKGROUND: X-linked thrombocytopenia (XLT) is a milder form of Wiskott-Aldrich syndrome (WAS), characterized predominantly by thrombocytopenia with small-sized platelets. Mutations in the WAS gene are responsible for the disease. We herein detected a new mutation in the WAS gene responsible for XLT in a 3-generation Chinese pedigree. METHODS: Peripheral blood samples were collected from 7 members in the family. WAS gene was amplified from genomic DNA isolated from leucocytes, and then direct sequencing was performed...
October 31, 2018: Clinical Laboratory
https://read.qxmd.com/read/30539652/nudel-involvement-in-the-high-glucose-induced-epithelial-mesenchymal-transition-of-tubular-epithelial-cells
#7
Wei Zhang, Ling-Ling Xing, Lu Xu, Xiaoxue Jin, Yunxia Du, Xiaojuan Feng, Shu-Xia Liu, Qingjuan Liu
Nudel is a newly discovered factor related to cell migration. The tubular epithelial-mesenchymal transition (EMT) includes four steps: the loss of the adhesive properties of epithelial cells, the acquisition of a mesenchymal cell phenotype, the destruction of the tubular basal membrane and the migration into the renal interstitium. The purpose of this study was to investigate the role of Nudel in the high glucose-induced EMT of tubular epithelial cells. Human renal proximal tubular epithelial cells (HKCs) were treated with Nudel shRNA to clarify the role and mechanism of Nudel in tubular EMT induced by high glucose...
December 12, 2018: American Journal of Physiology. Renal Physiology
https://read.qxmd.com/read/30534824/the-prognostic-value-of-cxcr4-%C3%AE-sma-and-wasl-in-upper-lip-basal-cell-carcinomas
#8
Alex Ioan Sălan, Petre Costin Mărăşescu, Adrian Camen, Eduard Mihai Ciucă, Marius Matei, Alma Maria Florescu, Vlad Pădureanu, Claudiu Mărgăritescu
Lip cancers account for 10-12% of the total head and neck cancers and, although squamous cell carcinoma is by far the most common lower lip cancer, the basal cell carcinoma (BCC) seems to be more common for the upper lip. Most BCCs have a clinically indolent behavior, but there are also local aggressive and∕or metastatic cases, with the incidence of such cases being estimated at about 1-10% of all cases of BCC. Many of the molecular mechanisms underlying this aggression are still unknown, which is why our study aimed to investigate the potential prognosis of a few markers, such as C-X-C chemokine receptor type 4 (CXCR4), alpha-smooth muscle actin (α-SMA) and Wiskott-Aldrich syndrome like (WASL) in upper lip BCCs...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://read.qxmd.com/read/30510251/wiskott-aldrich-syndrome-protein-wasp-is-a-tumor-suppressor-in-t-cell-lymphoma
#9
Matteo Menotti, Chiara Ambrogio, Taek-Chin Cheong, Chiara Pighi, Ines Mota, Seth H Cassel, Mara Compagno, Qi Wang, Riccardo Dall'Olio, Valerio G Minero, Teresa Poggio, Geeta Geeta Sharma, Enrico Patrucco, Cristina Mastini, Ramesh Choudhari, Achille Pich, Alberto Zamo, Roberto Piva, Silvia Giliani, Luca Mologni, Clayton K Collings, Cigall Kadoch, Carlo Gambacorti-Passerini, Luigi D Notarangelo, Ines M Anton, Claudia Voena, Roberto Chiarle
In T lymphocytes, the Wiskott-Aldrich Syndrome protein (WASP) and WASP-interacting-protein (WIP) regulate T cell antigen receptor (TCR) signaling, but their role in lymphoma is largely unknown. Here we show that the expression of WASP and WIP is frequently low or absent in anaplastic large cell lymphoma (ALCL) compared to other T cell lymphomas. In anaplastic lymphoma kinase-positive (ALK+) ALCL, WASP and WIP expression is regulated by ALK oncogenic activity via its downstream mediators STAT3 and C/EBP-β. ALK+ lymphomas were accelerated in WASP- and WIP-deficient mice...
December 3, 2018: Nature Medicine
https://read.qxmd.com/read/30501726/-efficacy-analysis-of-unrelated-umbilical-cord-blood-transplantation-for-the-treatment-of-wiskott-aldrich-syndrome
#10
Hui-Hui Song, Zheng-Ping Yu, Wen-Duo Heg, Jia-Hua Ding, Bao-An Chen
OBJECTIVE: To explore the clinical efficacy and safety of unrelated umbilical cord blood transplantation (UCBT) for the treatment of Wiskott-Aldrich syndrome(WAS). METHODS: Five pediatric patients with WAS received single UCBT were retrospectively analyzed. The median age of these male patients was 268 days (range, 3 days -695 days). Among them, 2 patients were transplanted with a 6/6 matched cord blood graft,the other 3 patients received a 5/6 matched cord blood graft...
December 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://read.qxmd.com/read/30489239/membrane-trafficking-rna-interference-screen-identifies-a-crucial-role-of-the-clathrin-endocytic-pathway-and-arp2-3-complex-for-japanese-encephalitis-virus-infection-in-hela-cells
#11
Renu Khasa, Anuradha Vaidya, Sudhanshu Vrati, Manjula Kalia
Japanese encephalitis virus (JEV), a mosquito-borne flavivirus, is one of the leading global causes of virus-induced encephalitis. The infectious life-cycle of viruses is heavily dependent on the host membrane trafficking network. Here, we have performed a RNA-interference-based screen using a siRNA panel targeting 136 membrane trafficking proteins to identify the key regulators of JEV infection in HeLa cells. We identified 35 proteins whose siRNA depletion restricts JEV replication by over twofold. We observe that JEV infection in HeLa cells is largely dependent on components of the clathrin-mediated endocytic (CME) pathway...
November 29, 2018: Journal of General Virology
https://read.qxmd.com/read/30471998/dip1-co-opts-features-of-branching-nucleation-to-create-linear-actin-filaments-that-activate-wasp-bound-arp2-3-complex
#12
Connor J Balzer, Andrew R Wagner, Luke A Helgeson, Brad J Nolen
When activated by Wiskott-Aldrich syndrome proteins (WASP), Arp2/3 complex nucleates branched actin filaments important for processes like cellular motility and endocytosis [1]. WASP-mediated activation of Arp2/3 complex requires a preformed actin filament, ensuring that activation by WASP creates branched instead of linear filaments. However, this biochemical requirement also means that assembly of branched actin networks must be primed with an initial seed filament [2-4]. We recently described a class of activators called WISH/DIP/SPIN90 (WDS) proteins, which, unlike WASP, activate Arp2/3 complex without a preformed filament [4]...
November 10, 2018: Current Biology: CB
https://read.qxmd.com/read/30470982/transplantation-of-hematopoietic-stem-cells-for-primary-immunodeficiencies-in-brazil-challenges-in-treating-rare-diseases-in-developing-countries
#13
Juliana Folloni Fernandes, Samantha Nichele, Liane E Daudt, Rita B Tavares, Adriana Seber, Fábio R Kerbauy, Adriana Koliski, Gisele Loth, Ana K Vieira, Luiz G Darrigo-Junior, Vanderson Rocha, Alessandra A Gomes, Vergílio Colturato, Luiz F Mantovani, Andreza F Ribeiro, Lisandro L Ribeiro, Cilmara Kuwahara, Ana L M Rodrigues, Victor G Zecchin, Beatriz T Costa-Carvalho, Magda Carneiro-Sampaio, Antonio Condino-Neto, Anders Fasth, Andrew Gennery, Ricardo Pasquini, Nelson Hamerschlak, Carmem Bonfim
The results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. We included data from transplants in 221 patients, performed at 11 centers which participated in the Brazilian collaborative group, from July 1990 to December 2015. The majority of transplants were concentrated in one center (n = 123)...
November 24, 2018: Journal of Clinical Immunology
https://read.qxmd.com/read/30450104/the-phenotype-and-treatment-of-wip-deficiency-literature-synopsis-and-review-of-a-patient-with-pre-transplant-serial-donor-lymphocyte-infusions-to-eliminate-cmv
#14
REVIEW
Wolfgang Schwinger, Christian Urban, Raphael Ulreich, Daniela Sperl, Anna Karastaneva, Volker Strenger, Herwig Lackner, Kaan Boztug, Michael H Albert, Martin Benesch, Markus G Seidel
Early diagnosis of primary immunodeficiency disorders (PID) is vital and allows directed treatment, especially in syndromes with severe or profound combined immunodeficiency. In PID patients with perinatal CMV or other opportunistic, invasive infections (e.g., Pneumocystis or Aspergillus ), multi-organ morbidity may already arise within the first months of life, before hematopoietic stem cell transplantation (HSCT) or gene therapy can be undertaken, compromising the definitive treatment and outcome. Deficiency of Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP deficiency) causes an autosomal recessive, WAS-like syndrome with early-onset combined immunodeficiency that has been described in three pedigrees to date...
2018: Frontiers in Immunology
https://read.qxmd.com/read/30425062/wash-regulates-glucose-homeostasis-by-facilitating-glut2-receptor-recycling-in-pancreatic-beta-cells
#15
Li Ding, Lingling Han, John Dube, Daniel D Billadeau
WASH is an endosomal protein belonging to the Wiskott-Aldrich syndrome protein superfamily that participates in endosomal receptor trafficking by facilitating tubule fission via activation of the ubiquitously expressed Arp2/3 complex. While several studies have begun to understand the functions of WASH in cells lines, the in vivo function of WASH has not been fully elucidated since total body deletion in mice leads to early embryonic lethality. To circumvent this problem, we have used a WASH conditional knockout mouse model to investigate the role of WASH in the pancreas...
November 13, 2018: Diabetes
https://read.qxmd.com/read/30416697/cutaneous-manifestations-of-primary-immunodeficiency-diseases-in-tunisian-children
#16
Naouel Guirat Dhouib, Monia Ben Khaled, Monia Ouederni, Imen Ben-Mustapha, Ridha Kouki, Habib Besbes, Mohamed Ridha Barbouche, Fethi Mellouli, Mohamed Bejaoui
Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://read.qxmd.com/read/30410494/plasmacytoid-dendritic-cells-are-largely-dispensable-for-the-pathogenesis-of-experimental-inflammatory-bowel-disease
#17
Catherine M Sawai, Lee Serpas, Antonio Galvao Neto, Geunhyo Jang, Ali Rashidfarrokhi, Roland Kolbeck, Miguel A Sanjuan, Boris Reizis, Vanja Sisirak
Inflammatory bowel disease (IBD) is a chronic inflammatory condition caused by an aberrant immune response to microbial components of the gastrointestinal tract. Plasmacytoid dendritic cells (pDCs) are innate immune cells specialized in the production of type I interferons and were recently implicated in the pathogenesis of autoimmune disorders such as lupus and scleroderma. While pDCs were shown to infiltrate intestinal mucosa of IBD patients and proposed to participate in intestinal inflammation, their net contribution to the disease remains unclear...
2018: Frontiers in Immunology
https://read.qxmd.com/read/30385722/inhibition-of-profibrotic-microrna-21-affects-platelets-and-their-releasate
#18
Temo Barwari, Seda Eminaga, Ursula Mayr, Ruifang Lu, Paul C Armstrong, Melissa V Chan, Mahnaz Sahraei, Marta Fernández-Fuertes, Thomas Moreau, Javier Barallobre-Barreiro, Marc Lynch, Xiaoke Yin, Christian Schulte, Ferheen Baig, Raimund Pechlaner, Sarah R Langley, Anna Zampetaki, Peter Santer, Martin Weger, Roberto Plasenzotti, Markus Schosserer, Johannes Grillari, Stefan Kiechl, Johann Willeit, Ajay M Shah, Cedric Ghevaert, Timothy D Warner, Carlos Fernández-Hernando, Yajaira Suárez, Manuel Mayr
Fibrosis is a major contributor to organ disease for which no specific therapy is available. MicroRNA-21 (miR-21) has been implicated in the fibrogenetic response, and inhibitors of miR-21 are currently undergoing clinical trials. Here, we explore how miR-21 inhibition may attenuate fibrosis using a proteomics approach. Transfection of miR-21 mimic or inhibitor in murine cardiac fibroblasts revealed limited effects on extracellular matrix (ECM) protein secretion. Similarly, miR-21-null mouse hearts showed an unaltered ECM composition...
November 2, 2018: JCI Insight
https://read.qxmd.com/read/30346863/cyclic-manner-of-neutropenia-in-a-patient-with-hax-1-mutation
#19
Funda Erol Cipe, Mehmet Halil Celiksoy, Biray Erturk, Çiğdem Aydogmus
INTRODUCTION: Severe congenital neutropenia (SCN) includes a group of genetic disorders which cause to arrest of neutrophil maturation. SCN can be associated with heterogenous group of genetic defects in ELANE, GFI1, HAX1, G6PC3, JAGN1, VPS45 or activating mutations in the Wiskott-Aldrich syndrome (WAS) gene. AIM: Here we report a patient who has a HAX1 mutation presented with cyclic manner. CASE REPORT: A 6 year old female patients was admitted with recurrent apthous stomatitis...
October 22, 2018: Pediatric Hematology and Oncology
https://read.qxmd.com/read/30299399/advances-in-site-specific-gene-editing-for-primary-immune-deficiencies
#20
Caroline Y Kuo
PURPOSE OF REVIEW: Conventional gene therapy has been a successful, curative treatment modality for many primary immune deficiencies with significant improvements in the last decade. However, the risk of leukemic transformation with viral-mediated gene addition still remains, and unregulated gene addition is not an option for certain diseases in which the target gene is closely controlled. The recent bloom in genome modification platforms has created the opportunity to site-specifically correct mutated DNA base pairs or insert a corrective cDNA minigene while maintaining gene expression under control of endogenous regulatory elements...
December 2018: Current Opinion in Allergy and Clinical Immunology
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