| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1019156611 |
| P356 | DOI | 10.1038/85886 |
| P698 | PubMed publication ID | 11242115 |
| P5875 | ResearchGate publication ID | 12090314 |
| P2093 | author name string | Devriendt K | |
| Schwartz M | |||
| Vandenberghe P | |||
| Boogaerts MA | |||
| Frints SG | |||
| Fryns JP | |||
| Kim AS | |||
| Mathijs G | |||
| Rosen MK | |||
| Van Den Oord JJ | |||
| Verhoef GE | |||
| You D | |||
| P2860 | cites work | Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein | Q22009957 |
| Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein | Q22253357 | ||
| The Cdc42/Rac interactive binding region motif of the Wiskott Aldrich syndrome protein (WASP) is necessary but not sufficient for tight binding to Cdc42 and structure formation | Q24313611 | ||
| Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP | Q24318478 | ||
| Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42 | Q24603554 | ||
| The interaction of Arp2/3 complex with actin: nucleation, high affinity pointed end capping, and formation of branching networks of filaments | Q24653380 | ||
| Activation of the CDC42 effector N-WASP by the Shigella flexneri IcsA protein promotes actin nucleation by Arp2/3 complex and bacterial actin-based motility | Q24683572 | ||
| A comprehensive genetic map of the human genome based on 5,264 microsatellites | Q27860812 | ||
| Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy | Q28140188 | ||
| Integration of multiple signals through cooperative regulation of the N-WASP-Arp2/3 complex | Q28142313 | ||
| The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization | Q28198756 | ||
| Activation by Cdc42 and PIP(2) of Wiskott-Aldrich syndrome protein (WASp) stimulates actin nucleation by Arp2/3 complex | Q28609852 | ||
| Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, 5-bisphosphate | Q28647599 | ||
| Studies of the expression of the Wiskott-Aldrich syndrome protein | Q33495888 | ||
| Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients | Q33503155 | ||
| Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome | Q33503405 | ||
| Signaling to actin dynamics | Q33699981 | ||
| The immunological synapse and the actin cytoskeleton: molecular hardware for T cell signaling. | Q33958592 | ||
| CD8+, CD57+ T cells from healthy elderly subjects suppress neutrophil development in vitro: implications for the neutropenia of Felty's and large granular lymphocyte syndromes | Q73678536 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| severe congenital neutropenia | Q18553325 | ||
| X-linked severe congenital neutropenia | Q102293991 | ||
| P304 | page(s) | 313-317 | |
| P577 | publication date | 2001-03-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia | |
| P478 | volume | 27 |
| Q36543836 | 5. Mechanisms of disordered granulopoiesis in congenital neutropenia |
| Q33943677 | A chemical inhibitor of N-WASP reveals a new mechanism for targeting protein interactions |
| Q30496909 | A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes |
| Q44519511 | A conserved amphipathic helix in WASP/Scar proteins is essential for activation of Arp2/3 complex |
| Q33378081 | A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene |
| Q35076132 | A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. |
| 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 |
| Q89507123 | A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia |
| Q34551427 | A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia |
| Q24655459 | A syndrome with congenital neutropenia and mutations in G6PC3 |
| Q27021852 | Actin cytoskeletal defects in immunodeficiency |
| Q24548463 | Actin-based motility of intracellular microbial pathogens |
| Q33902360 | Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes |
| Q41403505 | Activating mutations of N-WASP alter Shigella pathogenesis |
| Q40361925 | Activation of compensatory pathways via Rac2 in the absence of the Cdc42 effector Wiskott-Aldrich syndrome protein in Dendritic cells. |
| Q34773996 | Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane |
| Q38083725 | Advances in the understanding of Barth syndrome |
| Q30276732 | Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project |
| Q30481248 | Bacterial actin assembly requires toca-1 to relieve N-wasp autoinhibition |
| Q36015049 | CXCR4 mutations in WHIM syndrome: a misguided immune system? |
| Q37406742 | Cdc42 regulates Fc gamma receptor-mediated phagocytosis through the activation and phosphorylation of Wiskott-Aldrich syndrome protein (WASP) and neural-WASP. |
| Q38160152 | Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia |
| Q38431506 | Chemokines, their receptors and human disease: the good, the bad and the itchy. |
| Q37121906 | Clinical immunology review series: an approach to the patient with recurrent infections in childhood |
| Q49557852 | Clonal evolution in leukemia |
| Q37859344 | Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica). |
| Q26996029 | Congenital defects in neutrophil dynamics |
| Q35558511 | Congenital neutropenia |
| Q48123477 | Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history |
| Q33395402 | Congenital neutropenia: diagnosis, molecular bases and patient management |
| Q40585986 | Contingent phosphorylation/dephosphorylation provides a mechanism of molecular memory in WASP. |
| Q33424297 | Current and emerging treatment options for Wiskott-Aldrich syndrome |
| Q45023707 | Current understanding of the Wiskott-Aldrich syndrome and prospects for gene therapy. |
| Q37943757 | Cytokinesis, ploidy and aneuploidy |
| Q38102968 | Defects of leukocyte migration in primary immunodeficiencies |
| Q33418318 | Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature |
| Q24623952 | Digenic mutations in severe congenital neutropenia |
| Q46765942 | Discontinuous low-dose flutamide-metformin plus an oral or a transdermal contraceptive in patients with hyperinsulinaemic hyperandrogenism: normalizing effects on CRP, TNF-alpha and the neutrophil/lymphocyte ratio |
| Q27003187 | Discovery of single-gene inborn errors of immunity by next generation sequencing |
| Q42724564 | Disease models for every field: workshop on the molecular basis of human congenital lymphocyte disorders. |
| Q33417841 | Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome |
| Q37980726 | Endocytosis and signaling: cell logistics shape the eukaryotic cell plan |
| Q39279911 | Excess F-actin mechanically impedes mitosis leading to cytokinesis failure in X-linked neutropenia by exceeding Aurora B kinase error correction capacity |
| Q40668627 | Expression of WASP and Scar1/WAVE1 actin-associated proteins is differentially modulated during differentiation of HL-60 cells |
| Q37369951 | G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. |
| Q40410872 | GM-CSF treatment is not effective in congenital neutropenia patients due to its inability to activate NAMPT signaling |
| Q24626495 | Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies |
| Q88651319 | Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases |
| Q37287780 | Genetic and molecular diagnosis of severe congenital neutropenia. |
| Q36995948 | Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? |
| Q37480977 | Genetic insights into congenital neutropenia |
| Q37571008 | Genetics of hypogammaglobulinemia: what do we really know? |
| Q37767120 | Gfi1-cells and circuits: unraveling transcriptional networks of development and disease |
| Q37144818 | Granulocyte Colony-stimulating Factor for Preterms with Sepsis and Neutropenia: A Randomized Controlled Trial |
| Q36439900 | Growth factor independence 1 (Gfi1) regulates cell-fate decision of a bipotential granulocytic-monocytic precursor defined by expression of Gfi1 and CD48. |
| Q33389727 | Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment |
| Q54672066 | Heterogeneous expression pattern of pro- and anti-apoptotic factors in myeloid progenitor cells of patients with severe congenital neutropenia treated with granulocyte colony-stimulating factor. |
| Q30157463 | Hierarchical regulation of WASP/WAVE proteins |
| Q33395814 | Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia |
| Q39248493 | How I manage children with neutropenia. |
| Q39361295 | Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency |
| Q26775894 | Human genetic basis of interindividual variability in the course of infection |
| Q38195246 | ICON: the early diagnosis of congenital immunodeficiencies |
| Q33357221 | Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome |
| Q27335176 | Identification of an ATP-controlled allosteric switch that controls actin filament nucleation by Arp2/3 complex. |
| Q36981181 | Immunological and genetic bases of new primary immunodeficiencies |
| Q35190461 | Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind |
| Q26825342 | Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes |
| Q57741832 | Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia |
| Q37945495 | Inflammatory bowel disease: is it a primary immunodeficiency? |
| Q33749664 | Inherited biallelic CSF3R mutations in severe congenital neutropenia. |
| Q33410845 | Intermittent X-linked thrombocytopenia with a novel WAS gene mutation |
| Q87072918 | JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family |
| Q24302095 | JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia |
| Q24309133 | LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia |
| Q36007604 | Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential |
| Q35553861 | Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy. |
| Q37352470 | Leukocyte trafficking in primary immunodeficiencies |
| 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. |
| Q34647002 | Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways. |
| Q42574000 | Molecular basis of congenital neutropenia |
| Q33422658 | Molecular basis of inherited thrombocytopenias |
| Q27308645 | Molecular difference between WASP and N-WASP critical for chemotaxis of T-cells towards SDF-1α. |
| Q39519390 | Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1. |
| Q24633709 | Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 |
| Q34190328 | Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease |
| Q34360473 | Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia |
| Q33382439 | Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes |
| Q37610443 | Neutropenia and primary immunodeficiency diseases |
| Q37210757 | Neutropenia in primary immunodeficiency |
| Q90401559 | Neutropenia in the age of genetic testing: Advances and challenges |
| Q35826008 | Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis |
| Q35642863 | Neutrophil elastase in cyclic and severe congenital neutropenia |
| Q36057930 | Neutrophils in host defense: new insights from zebrafish |
| Q28087227 | Neutrophils: Between host defence, immune modulation, and tissue injury |
| Q46853118 | New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing |
| Q88128155 | Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia |
| Q37466339 | Novel anti-HIV therapeutics targeting chemokine receptors and actin regulatory pathways |
| Q73720344 | Now, swing your partner! 3D-domain switching of WASP activates Arp2/3 complex |
| Q42609951 | Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells. |
| Q42399841 | Old and new faces of neutropenia in children |
| Q33978977 | Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry |
| Q37070448 | Pathophysiology and management of inherited bone marrow failure syndromes |
| Q49691357 | Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation |
| Q37329019 | Phosphorylation of WASp is a key regulator of activity and stability in vivo |
| Q30156827 | Physical mechanisms of signal integration by WASP family proteins. |
| Q29042159 | Practice parameter for the diagnosis and management of primary immunodeficiency |
| Q37438279 | Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia |
| Q97067634 | Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations |
| Q36535366 | Primary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection |
| Q43787900 | Primary immunodeficiences--options for the future |
| Q33367864 | Qualitative disorders of platelets and megakaryocytes |
| Q58780870 | Rare Genetic Blood Disease Modeling in Zebrafish |
| Q90746855 | Recent advances in primary immunodeficiency: from molecular diagnosis to treatment |
| Q37768347 | Regulation of WASp by phosphorylation: Activation or other functions? |
| Q34495181 | Regulation of Wiskott-Aldrich syndrome protein and related molecules |
| Q34832611 | Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies |
| Q34984944 | Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings |
| Q30430294 | Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis |
| Q37952706 | Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS. |
| Q38364694 | Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome |
| Q47217839 | Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in Juvenile myelomonocytic leukemia patients. |
| Q34391559 | Surfing the big WAVE: Insights into the role of WAVE3 as a driving force in cancer progression and metastasis |
| Q35621987 | Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities |
| Q35096685 | The Wiskott-Aldrich syndrome protein: forging the link between actin and cell activation |
| Q37754673 | The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment |
| Q51445171 | The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism. |
| Q39453643 | The cellular and molecular mechanisms for neutropenia in Barth syndrome |
| Q37358077 | The mechanism of CSF-1-induced Wiskott-Aldrich syndrome protein activation in vivo: a role for phosphatidylinositol 3-kinase and Cdc42. |
| Q24685932 | The molecular pathology of primary immunodeficiencies |
| Q37767175 | The relationship of x-linked primary immune deficiencies and autoimmunity |
| Q34594213 | The role of Rho GTPases in disease development |
| Q35428973 | Transplantation for congenital bone marrow failure syndromes |
| Q42145570 | Tyrosine phosphorylation of WASP promotes calpain-mediated podosome disassembly |
| Q64087550 | Ultra-Sensitive Deep Sequencing in Patients With Severe Congenital Neutropenia |
| Q38604646 | Understanding chronic neutropenia: life is short |
| Q53664463 | Unraveling the molecular effects of mutation L270P on Wiskkot-Aldrich syndrome protein: insights from molecular dynamics approach. |
| Q40088786 | Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia |
| Q35575327 | Update on primary immunodeficiency: defects of lymphocytes |
| Q28659580 | Variation Ontology for annotation of variation effects and mechanisms |
| Q34100506 | WASP: a key immunological multitasker |
| Q34810230 | WASp in immune-system organization and function |
| Q92239402 | When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura |
| Q36632359 | Wiskott-Aldrich Syndrome at the nexus of autoimmune and primary immunodeficiency diseases |
| Q37560331 | Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation |
| Q58567724 | Wiskott-Aldrich syndrome gene mutations modulate cancer susceptibility in the p53 murine model |
| Q28288791 | Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells |
| Q24313212 | Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion |
| Q38151844 | Wiskott-Aldrich syndrome protein--dynamic regulation of actin homeostasis: from activation through function and signal termination in T lymphocytes |
| Q33422471 | Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation |
| Q33406620 | Wiskott-Aldrich syndrome: a comprehensive review |
| Q81283346 | Wiskott-Aldrich syndrome: another piece in the puzzle |
| Q33356834 | Wiskott—Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation |
| Q35850633 | X-linked immunodeficiencies |
| Q33417562 | X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis |
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