3,319 results match your criteria Wiskott-Aldrich Syndrome
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2018 Dec;26(6):1816-1821
Department of Hematology，Zhongda Hospital，Southeast University，Nanjing 210009，Jiangsu Province, China.
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). Read More
Nat Med 2018 Dec 3. Epub 2018 Dec 3.
Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, Italy.
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. Read More
J Gen Virol 2018 Nov 29. Epub 2018 Nov 29.
3Regional Centre for Biotechnology, NCR Biotech Science Cluster, Faridabad, Haryana, India.
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. Read More
Curr Biol 2018 Dec 21;28(23):3886-3891.e4. Epub 2018 Nov 21.
Institute of Molecular Biology and Department of Chemistry and Biochemistry, University of Oregon, 1229 University of Oregon, Eugene, OR 97403, USA. Electronic address:
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]. Read More
J Clin Immunol 2018 Nov 24. Epub 2018 Nov 24.
Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil.
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. Read More
Front Immunol 2018 2;9:2554. Epub 2018 Nov 2.
Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
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. Read More
Diabetes 2018 Nov 13. Epub 2018 Nov 13.
Division of Oncology Research and Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN 55905
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. Read More
Mediterr J Hematol Infect Dis 2018 1;10(1):e2018065. Epub 2018 Nov 1.
Pediatric Immunohematology Department, Bone Marrow Transplantation Center Tunis, Tunisia.
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. Read More
Front Immunol 2018 25;9:2475. Epub 2018 Oct 25.
Department of Pathology, New York University School of Medicine, New York, NY, United States.
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. Read More
Neurogastroenterol Motil 2018 Nov 4:e13495. Epub 2018 Nov 4.
Department of Physiology and Biophysics, VCU Program in Enteric Neuromuscular Sciences, Virginia Commonwealth University, Richmond, Virginia.
Background: Actin polymerization plays an important role in smooth muscle contraction. Integrin-linked kinase (ILK) was shown to mediate actin polymerization in airway smooth muscle. The role of ILK in actin polymerization in response to m2 receptor activation was not in gastric smooth muscle. Read More
Oncoimmunology 2018 30;7(9):e1468954. Epub 2018 Jul 30.
Department of Microbiology Tumor and Cell biology, Karolinska Institutet, Stockholm, Sweden.
The Wiskott-Aldrich syndrome protein (WASp) is a key regulator of the actin cytoskeleton in hematopoietic cells and mutated in two severe immunodeficiency diseases with high incidence of cancer. Wiskott-Aldrich syndrome (WAS) is caused by loss-of-function mutations in WASp and most frequently associated with lymphoreticular tumors of poor prognosis. X-linked neuropenia (XLN) is caused by gain-of-function mutations in WASp and associated with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Read More
JCI Insight 2018 Nov 2;3(21). Epub 2018 Nov 2.
King's British Heart Foundation Centre, King's College London, London, United Kingdom.
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. Read More
Pediatr Hematol Oncol 2018 Oct 22:1-5. Epub 2018 Oct 22.
a Department of Pediatric Allergy and Immunology , Kanuni Sultan Suleyman Education and Research Hospital , Istanbul , Turkey.
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. Read More
Curr Opin Allergy Clin Immunol 2018 Dec;18(6):453-458
Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California, USA.
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. Read More
J Clin Immunol 2018 Oct 29;38(7):804-809. Epub 2018 Sep 29.
Division of Infectious Diseases, Children's National Health System, Washington, DC, 20010, USA.
Purpose: Patients with primary immunodeficiency diseases (PID) are perceived to be at high risk for acquiring as well as developing complications from infections. There is little data describing the infection type and frequency these patients may acquire in the community or during hospital admissions. Data is critically needed in order to inform best practices on how to protect these vulnerable patients. Read More
Immunol Cell Biol 2018 Sep 28. Epub 2018 Sep 28.
Seattle Children's Research Institute, Seattle, Washington, USA.
Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Read More
Palliat Support Care 2018 Sep 18:1-6. Epub 2018 Sep 18.
Pediatric Allergy, Immunology, Blood and Marrow Transplant Division,University of California San Francisco Benioff Children's Hospital,San Francisco,CA.
Objective: Caregivers for patients undergoing hematopoietic cell transplantation (HCT) are susceptible to significant psychosocial distress. This cross-sectional study aimed to describe psychosocial support services offered and used by caregivers of pediatric primary immune deficiency (PID) during HCT at 35 hospitals across North America.
Method: Caregivers of pediatric patients with PID were recruited by e-mail to participate in an anonymous 140-question survey instrument between April and May 2016 (N = 171). Read More
Indian Pediatr 2018 Aug;55(8):661-664
Department of Pediatric Haematology, Oncology, Blood and Marrow Transplantation, Apollo Cancer Institutes, Chennai, India.
Objective: To share experience of over 15 years in hematopoietic stem cell transplantation in children with primary immunodeficiency disorders.
Design: Medical record review.
Setting: A referral center for pediatric hemato-oncological disorders. Read More
J Allergy Clin Immunol 2018 Nov 4;142(5):1444-1446. Epub 2018 Sep 4.
Rare Diseases Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Electronic address:
Cell Mol Gastroenterol Hepatol 2018 7;6(3):356-369.e1. Epub 2018 Jun 7.
Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Immunoglobulin E-mediated food allergy is rapidly developing into a global health problem. Publicly available therapeutic intervention strategies are currently restricted to allergen avoidance and emergency treatments. To gain a better understanding of the disease pathophysiology so that new therapies can be developed, major research efforts have been put into studying food allergy in mice. Read More
J Clin Immunol 2018 Oct 27;38(7):757-766. Epub 2018 Aug 27.
Division of Hematology and Oncology, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Purpose: We aimed to report our single-center experience of allogeneic hematopoietic cell transplantation (HCT), which has been the only curative option for certain patients with lethal primary immunodeficiencies (PIDs).
Methods: We summarized the results of HCT performed for patients with PIDs for 11 consecutive years from 2006 to 2016 at Samsung Medical Center, Seoul, Korea. Twenty-six patients with PIDs received HCT. Read More
Proc Natl Acad Sci U S A 2018 09 27;115(37):E8642-E8651. Epub 2018 Aug 27.
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520;
We used fluorescence spectroscopy and EM to determine how binding of ATP, nucleation-promoting factors, actin monomers, and actin filaments changes the conformation of Arp2/3 complex during the process that nucleates an actin filament branch. We mutated subunits of Arp2/3 complex for labeling with fluorescent dyes at either the C termini of Arp2 and Arp3 or ArpC1 and ArpC3. We measured Förster resonance energy transfer (FRET) efficiency (ET) between the dyes in the presence of the various ligands. Read More
J Clin Invest 2018 Aug 20;128(9):4115-4131. Epub 2018 Aug 20.
Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Congenital neutropenia is characterized by low absolute neutrophil numbers in blood, leading to recurrent bacterial infections, and patients often require life-long granulocyte CSF (G-CSF) support. X-linked neutropenia (XLN) is caused by gain-of-function mutations in the actin regulator Wiskott-Aldrich syndrome protein (WASp). To understand the pathophysiology in XLN and the role of WASp in neutrophils, we here examined XLN patients and 2 XLN mouse models. Read More
J Biol Chem 2018 Sep 13;293(39):15136-15151. Epub 2018 Aug 13.
From the Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, United Kingdom
Wiskott-Aldrich syndrome protein (WASP) activates the actin-related protein 2/3 homolog (Arp2/3) complex and regulates actin polymerization in a physiological setting. Cell division cycle 42 (Cdc42) is a key activator of WASP, which binds Cdc42 through a Cdc42/Rac-interactive binding (CRIB)-containing region that defines a subset of Cdc42 effectors. Here, using site-directed mutagenesis and binding affinity determination and kinetic assays, we report the results of an investigation into the energetic contributions of individual WASP residues to both the Cdc42-WASP binding interface and the kinetics of complex formation. Read More
Heart Surg Forum 2018 07 2;21(4):E305-E306. Epub 2018 Jul 2.
Department of Cardiovascular Surgery, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey.
Aortic aneurysms are a rare condition in children. Wiskott-Aldrich syndrome is a primary immunodeficiency characterized by infections, thrombocytopenia, and eczema. Aortitis and aneurysm formation seem to be progressive in patients with Wiskott-Aldrich syndrome. Read More
Dis Model Mech 2018 09 13;11(9). Epub 2018 Sep 13.
Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany
Hereditary spastic paraplegias (HSPs) are genetically diverse and clinically characterised by lower limb weakness and spasticity. The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). To investigate the molecular functions of wild-type (WT) and N417D Str, we generated Str cells and ectopically expressed Str-GFP or Str-GFP in Str and WT cells. Read More
J Allergy Clin Immunol 2018 Nov 25;142(5):1654-1656.e7. Epub 2018 Jul 25.
Blood and Marrow Transplant Unit, Great Ormond Street Hospital NHS Trust, University College London, London, United Kingdom.
J Allergy Clin Immunol Pract 2018 Jul 23. Epub 2018 Jul 23.
Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; University College London, Institute of Immunity and Transplantation, London, United Kingdom.
J Exp Clin Cancer Res 2018 Jul 24;37(1):167. Epub 2018 Jul 24.
Department of General Surgery, Fujian Medical University Union Hospital, No.29 Xinquan Road, Fuzhou, 350001, People's Republic of China.
Background: Aberrant expression of Wiskott-Aldrich syndrome protein interacting protein family member 1 (WIPF1) contributes to the invasion and metastasis of several malignancies. However, the role of WIPF1 in human pancreatic ductal adenocarcinoma (PDAC) remains poorly understood.
Methods: Human pancreatic cancer samples from PDAC patients were collected for methylation analysis. Read More
BMC Med Genet 2018 Jul 20;19(1):123. Epub 2018 Jul 20.
Persian Bayan Gene Research and Training Institute, Faghihi Medical Genetics Center, Shiraz, Iran.
Background: Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the impaired protein or its absence cause phenotypic spectrum of the disease. Read More
Cell Rep 2018 Jul;24(3):619-629
Lymphocyte Interaction Laboratory, Francis Crick Institute, London NW1 1AT, UK; Ragon Institute of MGH, MIT and Harvard, Cambridge, MA 02139, USA.
Wiskott-Aldrich syndrome protein (WASp) is a main cytoskeletal regulator in B cells. WASp-interacting protein (WIP) binds to and stabilizes WASp but also interacts with actin. Using mice with a mutated actin binding domain of WIP (WIPΔABD), we here investigated the role of WIP binding to actin during B cell activation. Read More
BMC Pregnancy Childbirth 2018 Jul 11;18(1):299. Epub 2018 Jul 11.
Department of Pediatric, Children's Hospital, University Hospital, LMU, Munich, Germany.
Background: Patients with primary immunodeficiency disease (PID) who survive to adulthood and willing to have a child mostly are worried whether their disease affects their fertility and/or pregnancy and also if their child would be predisposed to PID.
Case Presentation: We report the outcome of conception, pregnancy and their management in 9 families with definite diagnosis of PID. A chronic granulomatous disease subject with an uneventful pregnancy developed fungal sacral osteomyelitis few weeks after delivery. Read More
BMJ Case Rep 2018 Jul 10;2018. Epub 2018 Jul 10.
Department of Hematology-Oncology, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA.
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad range of disease severity, ranging from classic WAS to X-linked thrombocytopenia and X-linked neutropenia. WAS in some cases can be fatal without haematopoietic stem cell transplantation early in life. Read More
Turk J Haematol 2018 Jul 2. Epub 2018 Jul 2.
Ankara University Medical Faculty, Department of Forensic Medicine Forensic Genetics Laboratory, Ankara, Turkey.
Cell Stem Cell 2018 Jul;23(1):132-146.e9
Department of Translational and Functional Cancer Genomics, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), Heidelberg, Germany; Department of Translational Medical Oncology, NCT-Dresden, University Hospital, Carl Gustav Carus, Technische Universität Dresden, Dresden and DKFZ, Heidelberg, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany. Electronic address:
Genes that regulate hematopoietic stem cell (HSC) self-renewal, proliferation, and differentiation are tightly controlled by regulatory regions. However, mapping such regions relies on surface markers and immunophenotypic definition of HSCs. Here, we use γ-retroviral integration sites (γRV ISs) from a gene therapy trial for 10 patients with Wiskott-Aldrich syndrome to mark active enhancers and promoters in functionally defined long-term repopulating HSCs. Read More
Semin Pediatr Neurol 2018 07 1;26:120-123. Epub 2017 Apr 1.
From the Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
We report a 2-year-old boy who was evaluated for difficult waking during prolonged intensive care unit admission associated with bone marrow transplant for Wiskott-Aldrich syndrome. Neurologic examination was found to be abnormal, with nuchal rigidity initially, then decreased extremity movement and areflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Read More
Gene 2018 Oct 27;674:49-56. Epub 2018 Jun 27.
Institute of Molecular Biology and Genetics, 150 Zabolotnogo Street, Kyiv 03680, Ukraine.
WIP (WASP interacting protein) together with N-WASP (neural Wiskott-Aldrich syndrome protein) regulates actin polymerization that is crucial for invadopodia and filopodia formation. Recently, we reported the WIP interaction with ITSN1 which is highly implicated in endo-/exocytosis, apoptosis, mitogenic signaling and cytoskeleton rearrangements. Here we demonstrate that the WIP/ITSN1 complex is involved in the transferrin receptor recycling and partially co-localizes with a marker of the fast recycling endosomes, RAB4. Read More
J Thromb Haemost 2018 Sep 27;16(9):1700-1710. Epub 2018 Jul 27.
Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
Hereditary thrombocytopenias (HTPs) constitute a heterogeneous group of diseases characterized by a reduction in platelet count and a potential bleeding risk. As a result of advances in diagnostic methods, HTPs are increasingly being identified, and appear to be less rare than previously thought. Most HTPs do not have effective treatments, except for platelet transfusion when bleeding occurs and in preparation for procedures associated with a risk of bleeding. Read More
Scand J Immunol 2018 Jun 26:e12699. Epub 2018 Jun 26.
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs) are recently used for detection of T or B cell lymphopenia in neonates based on region-specific cutoff levels. Here, we report cutoffs for TREC and KREC copies useful for newborn screening and/or diagnosis of primary immunodeficiency diseases (PID) in Iran. DNA was extracted from a single 3. Read More
Acta Med Okayama 2018 Jun;72(3):301-307
Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.
Renal involvement is occasionally observed in Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT). It has been reported that galactose-deficient IgA is a closely linked to IgA nephropathy (IgAN), suggesting that patients with XLT/WAS associated with reduced galactosylation on serum IgA are susceptible to IgAN. It is necessary to pay more attention to patients with IgAN due to the potential complication with XLT/WAS. Read More
Nat Commun 2018 06 18;9(1):2377. Epub 2018 Jun 18.
Office of the Dean and the Cancer Center, Long School of Medicine, University of Texas Health Science Center, San Antonio, TX, 78229, USA.
The transition of hematopoiesis from the fetal liver (FL) to the bone marrow (BM) is incompletely characterized. We demonstrate that the Wiskott-Aldrich syndrome verprolin-homologous protein (WAVE) complex 2 is required for this transition, as complex degradation via deletion of its scaffold Hem-1 causes the premature exhaustion of neonatal BM hematopoietic stem cells (HSCs). This exhaustion of BM HSC is due to the failure of BM engraftment of Hem-1 FL HSCs, causing early death. Read More
Elife 2018 Jun 18;7. Epub 2018 Jun 18.
Key Laboratory of Systems Biomedicine (Ministry of Education), Center for Comparative Biomedicine, Institute of Systems Biomedicine, Shanghai Center for Systems Biomedicine, Shanghai Jiao Tong University, Shanghai, China.
Diverse clustered protocadherins are thought to function in neurite morphogenesis and neuronal connectivity in the brain. Here, we report that the protocadherin alpha () gene cluster regulates neuronal migration during cortical development and cytoskeletal dynamics in primary cortical culture through the WAVE (Wiskott-Aldrich syndrome family verprolin homologous protein, also known as Wasf) complex. In addition, overexpression of proline-rich tyrosine kinase 2 (Pyk2, also known as Ptk2b, Cakβ, Raftk, Fak2, and Cadtk), a non-receptor cell-adhesion kinase and scaffold protein downstream of Pcdhα, impairs cortical neuron migration via inactivation of the small GTPase Rac1. Read More
Int J Oncol 2018 Aug 25;53(2):672-684. Epub 2018 May 25.
Department of Pancreato-Biliary Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
Alterations in Wiskott-Aldrich syndrome protein family verprolin-homologous protein 3 (WAVE3) expression play various roles in certain types of cancer. However, the roles of WAVE3 expression in pancreatic cancer remain unknown. The present retrospective study demonstrated that WAVE3 expression was higher in cancerous pancreatic tissues than in non-neoplastic tissues. Read More
Yi Chuan 2018 May;40(5):390-401
Key Laboratory of Systems Biomedicine (Ministry of Education), Center for Comparative Biomedicine, Institute of Systems Biomedicine, Shanghai Jiao Tong University, Shanghai 200240, China.
Cortical neuron migration in the developing mouse forebrain is a complex process, which contains several steps related to cytoskeleton dynamics and remodeling. Neural Wiskott-Aldrich syndrome protein (N-WASP), a member of the WASP-WAVE family, regulates actin cytoskeleton reorganization through the binding of its VCA domain to the Arp2/3 complex. Here we report expression patterns of N-WASP gene in the mouse developing embryonic cortex (E12. Read More
J Immunol 2018 Jun;200(11):3671-3680
J Immunol 2018 Jun;200(11):3667-3670
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030; and Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030
Pediatr Transplant 2018 08 15;22(5):e13222. Epub 2018 May 15.
Division of Pediatric Hematology Oncology, Children's Hospital of Michigan, Detroit, MI, USA.
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. Read More
Proc Natl Acad Sci U S A 2018 05 14;115(22):E5164-E5173. Epub 2018 May 14.
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada;
Leucine-rich repeat kinase 2 () has been implicated in both familial and sporadic Parkinson's disease (PD), yet its pathogenic role remains unclear. A previous screen in identified Scar/WAVE (Wiskott-Aldrich syndrome protein-family verproline) proteins as potential genetic interactors of 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 PD patients and mice display a WAVE2-mediated increase in phagocytic response, respectively. Read More
Anal Cell Pathol (Amst) 2018 20;2018:2989635. Epub 2018 Mar 20.
Department of Anatomy, Medical School of Patras, 26504 Patras, Greece.
Focal adhesion signaling to actin cytoskeleton is critically implicated in cell migration and cancer invasion and metastasis. Actin-binding proteins cofilin and N-WASP regulate actin filament turnover, and focal adhesion proteins parvins and PINCH mediate integrin signaling to the actin cytoskeleton. Altered expression of these proteins has been implicated in human cancer. Read More