| scholarly article | Q13442814 |
| P50 | author | Luigi D Notarangelo | Q86490621 |
| Qili Zhu | Q127793978 | ||
| Hans D. Ochs | Q115437 | ||
| P2093 | author name string | David L Nelson | |
| Cinzia Mazza | |||
| Francesca Gandellini | |||
| Silvia Giliani | |||
| Donn M Stewart | |||
| Patrizia Mella | |||
| Yinzhu Jin | |||
| Jacinda R Christie | |||
| Maurilia Fiorini | |||
| P433 | issue | 13 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | phenotype | Q104053 |
| Wiskott-Aldrich syndrome | Q953638 | ||
| P304 | page(s) | 4010-4019 | |
| P577 | publication date | 2004-07-29 | |
| P1433 | published in | Blood | Q885070 |
| P1476 | title | Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation | |
| P478 | volume | 104 |
| Q36365119 | A Dual Reporter Splicing Assay Using HaloTag-containing Proteins. |
| Q53407993 | A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome. |
| Q33408705 | A case of familial X-linked thrombocytopenia with a novel WAS gene mutation |
| Q33378081 | A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene |
| Q30497926 | A high-throughput chemically induced inflammation assay in zebrafish |
| Q43061380 | A map of human circular RNAs in clinically relevant tissues. |
| Q33391178 | A novel WASP gene mutation in a Chinese boy with Wiskott–Aldrich syndrome |
| Q33369710 | A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals |
| Q33404827 | A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura |
| Q33371626 | A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome |
| Q42878253 | A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts |
| Q33394391 | A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding |
| Q36654370 | A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. |
| Q33439801 | A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome |
| Q54028385 | A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. |
| Q33394893 | A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size |
| Q27021852 | Actin cytoskeletal defects in immunodeficiency |
| Q48192522 | Allogeneic Transplant for Mycosis Fungoides in Patient with Wiskott-Aldrich Syndrome |
| Q30572619 | Arp2/3-mediated actin-based motility: a tail of pathogen abuse |
| Q36101320 | Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma |
| Q60907816 | CRISPR/Cas9-mediated deletion of the Wiskott-Aldrich syndrome locus causes actin cytoskeleton disorganization in murine erythroleukemia cells |
| Q38431506 | Chemokines, their receptors and human disease: the good, the bad and the itchy. |
| Q64244673 | Circular RNAs in immune responses and immune diseases |
| Q45873782 | Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome. |
| Q33383840 | Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome |
| Q33403644 | Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. |
| Q33388631 | Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations |
| Q33376271 | Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan. |
| Q43566199 | Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). |
| Q33392815 | Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome |
| Q33409768 | Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. |
| Q61448098 | Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population |
| Q37480751 | Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand |
| Q36473090 | Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. |
| Q34131208 | Critical roles of the WASP N-terminal domain and Btk in LPS-induced inflammatory response in macrophages |
| Q33424297 | Current and emerging treatment options for Wiskott-Aldrich syndrome |
| Q45023707 | Current understanding of the Wiskott-Aldrich syndrome and prospects for gene therapy. |
| Q27322516 | Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture |
| Q38102968 | Defects of leukocyte migration in primary immunodeficiencies |
| Q56482184 | Development of lentiviral gene therapy for Wiskott Aldrich syndrome |
| Q35785194 | Developmental expression of Drosophila Wiskott-Aldrich Syndrome family proteins |
| Q37091432 | Diagnostic approach to platelet function disorders |
| Q30545781 | Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration |
| Q33417841 | Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome |
| Q37410050 | Diversity of polyproline recognition by EVH1 domains |
| Q33378512 | Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome |
| Q42098689 | Evolutionary rescue by compensatory mutations is constrained by genomic and environmental backgrounds |
| Q37136790 | FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages |
| Q88651319 | Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases |
| Q45869832 | Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult |
| Q37073895 | Genetic predispositions to childhood leukemia. |
| Q33418658 | Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene |
| Q33389727 | Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment |
| Q49408287 | High Efficiency Gene Correction in Hematopoietic Cells by Donor-Template-Free CRISPR/Cas9 Genome Editing. |
| Q38195246 | ICON: the early diagnosis of congenital immunodeficiencies |
| Q33397878 | IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family |
| Q39400516 | Impaired cell adhesion, apoptosis, and signaling in WASP gene-disrupted Nalm-6 pre-B cells and recovery of cell adhesion using a transducible form of WASp. |
| Q36189648 | Implications of polyadenylation in health and disease |
| Q33439366 | Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies |
| Q33387543 | Inherited platelet disorders: thrombocytopenias and thrombocytopathies |
| Q33442914 | Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein |
| Q37352470 | Leukocyte trafficking in primary immunodeficiencies |
| Q33395718 | Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study |
| Q42099250 | Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease. |
| Q26863462 | Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging |
| Q51377031 | Molecular Control of Actin Dynamics In Vivo: Insights from Drosophila. |
| Q33395963 | Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? |
| Q35848382 | Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome |
| Q27643576 | Multiple WASP-interacting protein recognition motifs are required for a functional interaction with N-WASP |
| Q91973488 | Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots |
| Q33382439 | Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes |
| Q34063501 | Nuclear role of WASp in gene transcription is uncoupled from its ARP2/3-dependent cytoplasmic role in actin polymerization. |
| Q30156827 | Physical mechanisms of signal integration by WASP family proteins. |
| Q36245217 | Predicting Severity of Disease-Causing Variants |
| Q43787900 | Primary immunodeficiences--options for the future |
| Q49722119 | R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome |
| Q60046866 | Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots |
| Q33378989 | Rapid platelet turnover in WASP(-) mice correlates with increased ex vivo phagocytosis of opsonized WASP(-) platelets |
| Q37329112 | Recent advances in the biology of WASP and WIP. |
| Q34832611 | Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies |
| Q33434875 | Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. |
| Q38364694 | Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome |
| Q79168433 | Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation |
| Q98394620 | Targeted gene correction of human hematopoietic stem cells for the treatment of Wiskott - Aldrich Syndrome |
| Q37754673 | The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment |
| Q33754791 | The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients |
| Q80778553 | The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, |
| Q27021287 | The role of phosphoinositide-regulated actin reorganization in chemotaxis and cell migration |
| Q33381504 | The thrombocytopenia of WAS: a familial form of ITP? |
| Q30480733 | Transcellular diapedesis is initiated by invasive podosomes |
| Q36372683 | Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. |
| Q35548241 | Types and effects of protein variations |
| Q30524705 | Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics |
| Q36658022 | Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome |
| Q52575536 | Use of Genetic Testing for Primary Immunodeficiency Patients. |
| Q37486208 | Use of cytokine therapy in primary immunodeficiency |
| Q36308865 | Variable phenotypic expression of mutations in genes of the immune system |
| Q28659580 | Variation Ontology for annotation of variation effects and mechanisms |
| Q38430977 | Very early-onset inflammatory bowel disease: gaining insight through focused discovery |
| Q35612381 | WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). |
| Q30009849 | WIP provides an essential link between Nck and N-WASP during Arp2/3-dependent actin polymerization |
| Q36455030 | Warts and all: human papillomavirus in primary immunodeficiencies |
| Q92239402 | When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura |
| Q92406277 | Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets |
| Q40049687 | Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing |
| Q37560331 | Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation |
| Q90657085 | Wiskott-Aldrich syndrome protein senses irradiation-induced DNA damage to coordinate the cell-protective Golgi dispersal response in human T and B lymphocytes |
| Q38151844 | Wiskott-Aldrich syndrome protein--dynamic regulation of actin homeostasis: from activation through function and signal termination in T lymphocytes |
| Q36603542 | Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells |
| Q37025448 | Wiskott-Aldrich syndrome proteins in the nucleus: aWASH with possibilities |
| Q33401984 | Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia |
| Q33422471 | Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation |
| Q47335934 | Wiskott-Aldrich syndrome: Two case reports with a novel mutation |
| Q33406620 | Wiskott-Aldrich syndrome: a comprehensive review |
| Q81283346 | Wiskott-Aldrich syndrome: another piece in the puzzle |
| Q33417562 | X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis |
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