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Wiskott aldrich

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https://www.readbyqxmd.com/read/29761856/autoimmune-thyroiditis-following-hla-matched-sibling-hematopoietic-stem-cell-transplantation-for-wiskott-aldrich-syndrome
#1
Tristan Knight, Katherine Kotz, Süreyya Savaşan
WAS is a fatal X-linked combined immunodeficiency syndrome, the only cures for which are HSCT or gene therapy. AID occur in up to 72% of patients with WAS who do not receive HSCT, likely arising secondary to impaired multilineage immune autoregulatory function; AITD is not typically seen. In this article, we describe the case of a male patient who underwent HLA-matched HSCT for WAS at the age of 5 months, with his sister (a WAS carrier) acting as his donor and subsequently developed AITD 12 months post-transplant, with marked elevation of antithyroid peroxidase antibody titer...
May 15, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29760073/regulation-of-myeloid-cell-phagocytosis-by-lrrk2-via-wave2-complex-stabilization-is-altered-in-parkinson-s-disease
#2
Kwang Soo Kim, Paul C Marcogliese, Jungwoo Yang, Steve M Callaghan, Virginia Resende, Elizabeth Abdel-Messih, Connie Marras, Naomi P Visanji, Jana Huang, Michael G Schlossmacher, Laura Trinkle-Mulcahy, Ruth S Slack, Anthony E Lang, David S Park
Leucine-rich repeat kinase 2 ( LRRK2 ) has been implicated in both familial and sporadic Parkinson's disease (PD), yet its pathogenic role remains unclear. A previous screen in Drosophila identified Scar/WAVE (Wiskott-Aldrich syndrome protein-family verproline) proteins as potential genetic interactors of LRRK2 Here, we provide evidence that LRRK2 modulates the phagocytic response of myeloid cells via specific modulation of the actin-cytoskeletal regulator, WAVE2. We demonstrate that macrophages and microglia from LRRK2-G2019S PD patients and mice display a WAVE2-mediated increase in phagocytic response, respectively...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29753160/get-outta-here-addition-of-mobilizing-agents-to-conditioning-regimen-improves-donor-engraftment-after-allogeneic-hematopoietic-stem-cell-transplantation-for-wiskott-aldrich-syndrome
#3
Michael P Rettig
No abstract text is available yet for this article.
May 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29746010/rho-kinase-rock-collaborates-with-pak-to-regulate-actin-polymerization-and-contraction-in-airway-smooth-muscle
#4
Wenwu Zhang, Bhupal P Bhetwal, Susan J Gunst
KEY POINTS: The mechanisms by which Rho kinase (ROCK) regulates airway smooth muscle contraction were determined in tracheal smooth muscle tissues. ROCK may mediate smooth muscle contraction by inhibiting myosin regulatory light chain (RLC) phosphatase. ROCK can also regulate F-actin dynamics during cell migration, and actin polymerization is critical for airway smooth muscle contraction. Our results show that ROCK does not regulate airway smooth muscle contraction by inhibiting myosin RLC phosphatase or by stimulating myosin RLC phosphorylation...
May 10, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29745014/posttransplant-cyclophosphamide-for-haploidentical-stem-cell-transplantation-in-children-with-wiskott-aldrich-syndrome
#5
Yan Yue, Xiaodong Shi, Zeliang Song, Jiayue Qin, Junhui Li, Shunqiao Feng, Rong Liu
BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is the curative treatment for Wiskott-Aldrich syndrome (WAS). However, it is difficult to find a matched donor for patients. Therefore, haploidentical donors should be considered for patients lacking a suitable donor. Our pilot study evaluated whether HSCT with posttransplantation cyclophosphamide (PTCy) is an effective treatment for WAS. METHODS: Haploidentical family donors were selected as donor sources for a total of five patients without a suitable donor between March 2015 and March 2017...
May 10, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29731300/actin-cross-linking-toxin-is-a-universal-inhibitor-of-tandem-organized-and-oligomeric-g-actin-binding-proteins
#6
Elena Kudryashova, David B Heisler, Blake Williams, Alyssa J Harker, Kyle Shafer, Margot E Quinlan, David R Kovar, Dimitrios Vavylonis, Dmitri S Kudryashov
Delivery of bacterial toxins to host cells is hindered by host protective barriers. This obstruction dictates a remarkable efficiency of toxins, a single copy of which may kill a host cell. Efficiency of actin-targeting toxins is further hampered by an overwhelming abundance of their target. The actin cross-linking domain (ACD) toxins of Vibrio species and related bacterial genera catalyze the formation of covalently cross-linked actin oligomers. Recently, we reported that the ACD toxicity can be amplified via a multivalent inhibitory association of actin oligomers with actin assembly factors formins, suggesting that the oligomers may act as secondary toxins...
April 21, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29729304/screening-for-wiskott-aldrich-syndrome-by-flow-cytometry
#7
Samuel Chiang
Quantifying WAS protein predicts WAS mutations with 89% sensitivity and 100% specificity, but correlated poorly with disease severity. Absent WAS protein confirms WAS mutation but the presence of WAS protein must be corroborated by sequencing.
May 2, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29725003/wasp-mediated-regulation-of-anti-inflammatory-macrophages-is-il-10-dependent-and-is-critical-for-intestinal-homeostasis
#8
Amlan Biswas, Dror S Shouval, Alexandra Griffith, Jeremy A Goettel, Michael Field, Yu Hui Kang, Liza Konnikova, Erin Janssen, Naresh Singh Redhu, Adrian J Thrasher, Talal Chatila, Vijay K Kuchroo, Raif S Geha, Luigi D Notarangelo, Sung-Yun Pai, Bruce H Horwitz, Scott B Snapper
Mutations in Wiskott-Aldrich syndrome protein (WASP) cause autoimmune sequelae including colitis. Yet, how WASP mediates mucosal homeostasis is not fully understood. Here we show that WASP-mediated regulation of anti-inflammatory macrophages is critical for mucosal homeostasis and immune tolerance. The generation and function of anti-inflammatory macrophages are defective in both human and mice in the absence of WASP. Expression of WASP specifically in macrophages, but not in dendritic cells, is critical for regulation of colitis development...
May 3, 2018: Nature Communications
https://www.readbyqxmd.com/read/29724910/retromer-associates-with-the-cytoplasmic-amino-terminus-of-polycystin-2
#9
Frances C Tilley, Matthew Gallon, Chong Luo, Chris M Danson, Jing Zhou, Peter J Cullen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic human disease, with around 12.5 million people affected worldwide. ADPKD results from mutations in either PKD1 or PKD2 , which encode the atypical G-protein coupled receptor polycystin-1 (PC1) and the transient receptor potential channel polycystin-2 (PC2) respectively. Although altered intracellular trafficking of PC1 and PC2 appear as an underlying feature of ADPKD, the mechanisms which govern vesicular transport of the polycystins through the biosynthetic and endosomal membrane networks remain to be fully elucidated...
May 3, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29675923/latent-therapeutic-demand-model-for-the-immunoglobulin-replacement-therapy-of-primary-immune-deficiency-disorders-in-the-usa
#10
J S Stonebraker, J Hajjar, J S Orange
BACKGROUND AND OBJECTIVES: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA)...
April 20, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29675452/attaching-and-effacing-pathogens-exploit-junction-regulatory-activities-of-n-wasp-and-snx9-to-disrupt-the-intestinal-barrier
#11
John J Garber, Emily M Mallick, Karen M Scanlon, Jerrold R Turner, Michael S Donnenberg, John M Leong, Scott B Snapper
Background & Aims: Neural Wiskott-Aldrich Syndrome protein (N-WASP) is a key regulator of the actin cytoskeleton in epithelial tissues and is poised to mediate cytoskeletal-dependent aspects of apical junction complex (AJC) homeostasis. Attaching-and-effacing (AE) pathogens disrupt this homeostasis through translocation of the effector molecule early secreted antigenic target-6 (ESX)-1 secretion-associated protein F (EspF). Although the mechanisms underlying AJC disruption by EspF are unknown, EspF contains putative binding sites for N-WASP and the endocytic regulator sorting nexin 9 (SNX9)...
March 2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29673481/cell-autonomous-regulation-of-dendrite-self-avoidance-by-the-wnt-secretory-factor-mig-14-wntless
#12
Chien-Po Liao, Hsun Li, Hsiu-Hsiang Lee, Cheng-Ting Chien, Chun-Liang Pan
Self-avoidance allows sister dendrites from the same neuron to form non-redundant coverage of the sensory territory and is important for neural circuitry functions. Here, we report an unexpected, cell-autonomous role of the Wnt-secretory factor MIG-14/Wntless in mediating dendrite self-avoidance in the C. elegans multidendritic PVD neurons. Similar findings in Drosophila suggest that this novel function of Wntless is conserved. The mig-14 mutant shows defects in dendrite self-avoidance, and ectopic MIG-14 expression triggers dendrite repulsion...
April 18, 2018: Neuron
https://www.readbyqxmd.com/read/29652993/-analysis-of-was-gene-mutation-in-a-chinese-family-affected-with-wiskott-aldrich-syndrome
#13
Weili Shi, Qiaofang Hou, Hui Zhang, Guiyu Lou, Yuwei Zhang, Shixiu Liao
OBJECTIVE: To detect potential mutation of the WAS gene in a Chinese family affected with Wiskott-Aldrich syndrome. METHODS: Peripheral blood samples were collected from the proband and his family members. All exons and flanking regions of the WAS gene were subjected to PCR amplification - Sanger sequencing as well as restriction endonuclease analysis. Plasma level of B-cell activating factor (BAFF) was also determined for all family members. RESULTS: A hemizygous mutation (c...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29621773/microrna-214-5p-inhibits-the-invasion-and-migration-of-hepatocellular-carcinoma-cells-by-targeting-wiskott-aldrich-syndrome-like
#14
Hongdan Li, Haoqi Wang, Zhen Ren
BACKGROUND/AIMS: This study aims to explore the effects of microRNA-214-5p (miR-214-5p) on the invasion and migration of Hepatocellular Carcinoma cells (HCC). METHODS: Hepatocellular Carcinoma tissues and adjacent normal tissues from 44 hepatocellular carcinoma patients were prepared for this study. The HepG2 and BEL-7402 cells were transfected with miR-214-5p mimic and inhibitor. qRT-PCR was performed to detect the expressions of miR-214-5p. Transwell assays were used to detect the invasion and migration assays in HepG2 and BEL-7402 cells...
March 29, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29602783/quantitative-imaging-flow-cytometry-of-legionella-infected-dictyostelium-reveals-the-impact-of-retrograde-trafficking-on-pathogen-vacuole-composition
#15
Amanda Welin, Stephen Weber, Hubert Hilbi
The ubiquitous environmental bacterium Legionella pneumophila survives and replicates within amoebae and human macrophages by forming a Legionella -containing vacuole (LCV). In an intricate process governed by the bacterial Icm/Dot type IV secretion system and a plethora of "effector proteins" the nascent LCV interferes with a number of intracellular trafficking pathways, including retrograde transport from endosomes to the Golgi apparatus. Conserved retrograde trafficking components such as the retromer coat complex or the phosphoinositide (PI) 5-phosphatase Dd5P4/OCRL restrict intracellular replication of L...
March 30, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29561314/neuropsychological-profile-of-a-girl-with-wiskott-aldrich-syndrome
#16
Andrea M Byrne, Tal Schechter, Robyn Westmacott
We report the neuropsychological profile of a 6-year-old girl with Wiskott-Aldrich syndrome, a rare X-linked immunodeficiency disorder associated with thrombocytopenia, eczema, recurrent infections, and malignancy. Wiskott-Aldrich syndrome occurs almost exclusively in males and is extremely rare in females, with no known research focused on cognitive and academic functioning in this population. Our patient was referred due to concerns about her memory and academic functioning. She had a history of progressive thrombocytopenia and hematopoietic stem cell transplantation at age 15 months...
March 2018: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/29550630/a-conditioning-regimen-with-plerixafor-is-safe-and-improves-the-outcome-of-tcr%C3%AE-%C3%AE-and-cd19-cell-depleted-stem-cell-transplantation-in-patients-with-wiskott-aldrich-syndrome
#17
Dmitry Balashov, Alexandra Laberko, Anna Shcherbina, Pavel Trakhtman, Dmitrii Abramov, Elena Gutovskaya, Svetlana Kozlovskaya, Larisa Shelikhova, Galina Novichkova, Michael Maschan, Alexander Rumiantsev, Alexei Maschan
Our initial experience with hematopoietic stem cell transplantation (HSCT) from a matched unrelated donor (MUD; n = 12) or a haploidentical related donor (n = 6) with T cell receptor (TCR)αβ+ /CD19+ graft depletion in patients with Wiskott-Aldrich syndrome (WAS) (n = 18) showed a dramatic decrease in the incidence of graft-versus-host disease (GVHD) and transplantation-related mortality, with an increased overall survival (OS) of 88.9%. Unfortunately, the treatment was associated with mixed myeloid donor chimerism and secondary graft dysfunction (severe thrombocytopenia, n = 2; graft rejection, n = 5)...
March 14, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29549166/wash-exhibits-context-dependent-phenotypes-and-along-with-the-wash-regulatory-complex-regulates-drosophila-oogenesis
#18
Jeffrey M Verboon, Jacob R Decker, Mitsutoshi Nakamura, Susan M Parkhurst
WASH, a Wiskott Aldrich Syndrome (WAS) family protein, has many cell and developmental roles related to its function as a branched actin nucleation factor. Similar to mammalian WASH, which is embryonic lethal, Drosophila Wash was found to be essential for oogenesis and larval development. Recently, however, Drosophila wash was reported to be homozygous viable. Here we verify that the original wash null allele harbors an unrelated lethal background mutation, however, this unrelated lethal mutation does not contribute to any Wash oogenesis phenotypes...
March 16, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29472447/dock8-regulates-bcr-signaling-and-activation-of-memory-b-cells-via-wasp-and-cd19
#19
Xiaoyu Sun, Jinzhi Wang, Tao Qin, Yongjie Zhang, Lu Huang, Linlin Niu, Xiaoming Bai, Yukai Jing, Xingtian Xuan, Heather Miller, Yao Zhao, Wenxia Song, Xuemei Tang, Zhiyong Zhang, Xiaodong Zhao, Chaohong Liu
Dock8 deficiency leads to immunodeficiency, and the role of Dock8 in B-cell development and function has been revealed; however, the role of DocK8 on B-cell receptor (BCR) signaling and function of memory B cells remains elusive. In this study, we generated a Dock8 knockout mouse model and collected peripheral blood mononuclear cells from Dock8 patients to study the effect of Dock8 deficiency on the BCR signaling and activation of memory B cells with confocal microscopy and total internal reflection fluorescence microscopy...
February 27, 2018: Blood Advances
https://www.readbyqxmd.com/read/29455393/mangiferin-inhibits-cell-migration-and-invasion-through-rac1-wave2-signalling-in-breast-cancer
#20
Qing Deng, Yan-Xiao Tian, JianJun Liang
Breast tumour progression results from the advancement of the disease to a metastatic phenotype. Rac1 and Cdc42 belong to the Rho family of genes that, together with their downstream effectors, Wiskott-Aldrich Syndrome protein-family verprolin-homologous protein 2 (WAVE2) and Arp2/3, assume a vital part in cytoskeletal rearrangement and the arrangement of film projections that advance malignant cell relocation and invasion. Mangiferin is a characteristic polyphenolic compound from Mangifera indica L. (Anacardiaceae), ordinarily referred to as mango, that is consumed worldwide as a natural product, including culinary and seasoning applications...
April 2018: Cytotechnology
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