Wiskott-Aldrich Syndrome
The Wiskott-Aldrich Syndrome: An X-linked Primary Immunodeficiency
Kristin Goff
The Wiskott-Aldrich Syndrome.ppt
Wiskott Aldrich Syndrome Treatment
The Wiskott-Aldrich Syndrome.ppt
Immunodeficiency
Immunodeficiency.ppt
Primary Immunodeficiency
Regina D. Wells, MD
Immune_
Wiskott-Aldrich Syndrome (WAS)
Wiskott-Aldrich Syndrome (WAS).ppt
Transfusion Associated Graft versus Host Disease TAGvHD
Lloyd O. Cook, M.D.
TransfusionAssociatedGraftvers
Immunodeficiencies
Protein Ontologies and Protein Disorder
A. Keith Dunker
Protein Ontologies and Protein Disorder.ppt
Heme-Onc Grand Rounds Case Presentation
Case Presentation.ppt
Clinical Coagulation
QualPLTs.ppt
Atopic Dermatitis, Eczema, and Noninfectious Immunodeficiency Disorders
Atopic Dermatitis.ppt
Platelet structure
Platelet structure
200 scholarly articles free access
- Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.
- The chemotactic defect in wiskott-Aldrich syndrome macrophages is due to the reduced persistence of directional protrusions.
- Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report.
- The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling.
- Long-term observation of herpes simplex virus type 1 HSV-1 infection in a child with Wiskott-Aldrich syndrome and a possible reactivation mechanism for thymidine kinase-negative HSV-1 in humans.
- Hematopoietic lineage cell-specific protein 1 functions in concert with the Wiskott-Aldrich syndrome protein to promote podosome array organization and chemotaxis in dendritic cells.
- 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.
- Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome.
- Stem-cell gene therapy for the Wiskott-Aldrich syndrome.
- Spurious case of XX maleness in a patient with a history of Wiskott-Aldrich syndrome.
- The Wiskott-Aldrich syndrome protein regulates CTL cytotoxicity and is required for efficient killing of B cell lymphoma targets.
- Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.
- Structures of actin-bound Wiskott-Aldrich syndrome protein homology 2 WH2 domains of Spire and the implication for filament nucleation.
- WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein WASP family are controlled by analogous structurally related complexes.
- Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.
- Systemic autoimmunity and defective Fas ligand secretion in the absence of the Wiskott-Aldrich syndrome protein.
- Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog WASH, a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 BLOS2 and gamma-tubulin.
- Neural Wiskott-Aldrich syndrome protein modulates Wnt signaling and is required for hair follicle cycling in mice.
- Critical requirement for the Wiskott-Aldrich syndrome protein in Th2 effector function.
- New insights into the biology of Wiskott-Aldrich syndrome WAS.
- Efficient transcriptional targeting of human hematopoietic stem cells and blood cell lineages by lentiviral vectors containing the regulatory element of the Wiskott-Aldrich syndrome gene.
- Cdc42 regulates Fc gamma receptor-mediated phagocytosis through the activation and phosphorylation of Wiskott-Aldrich syndrome protein WASP and neural-WASP.
- Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.
- Wiskott-Aldrich syndrome protein is an effector of Kit signaling.
- Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation.
- The mechanism of CSF-1-induced Wiskott-Aldrich syndrome protein activation in vivo: a role for phosphatidylinositol 3-kinase and Cdc42.
- Wiskott-Aldrich syndrome protein is required for homeostasis and function of invariant NKT cells.
- Sorting nexin 33 induces mammalian cell micronucleated phenotype and actin polymerization by interacting with Wiskott-Aldrich syndrome protein.
- Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.
- The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function.
- Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models.
- A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
- Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome.
- Wiskott-Aldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis.
- Expression of Wiskott-Aldrich syndrome protein in dendritic cells regulates synapse formation and activation of naive CD8+ T cells.
- Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.
- Unrelated bone marrow transplantation with a reduced toxicity myeloablative conditioning regimen in Wiskott-Aldrich syndrome.
- Persistent thrombocytopenia in a child: morphological examination of blood platelets established the diagnosis of Wiskott-Aldrich syndrome.
- Development of lentiviral gene therapy for Wiskott Aldrich syndrome.
- Percutaneous closure of false aneurysms of the aorta in Wiskott Aldrich syndrome.
- A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.
- Hematopoietic stem cell transplantation for patients with Wiskott-Aldrich syndrome.
- Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation.
- Wiskott-Aldrich syndrome protein is a key regulator of the phagocytic cup formation in macrophages.
- Wiskott Aldrich syndrome protein WASP and N-WASP are critical for T cell development.
- Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein.
- Impaired LPS-induced signaling in microglia overexpressing the Wiskott-Aldrich syndrome protein N-terminal domain.
- Surgical resection of sequential thoracic aortic aneurysms in Wiskott-Aldrich syndrome.
- Impaired in vitro regulatory T cell function associated with Wiskott-Aldrich syndrome.
- Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.
- A hydrophobic pocket in the active site of glycolytic aldolase mediates interactions with Wiskott-Aldrich syndrome protein.
- Requirement for a complex of Wiskott-Aldrich syndrome protein WASP with WASP interacting protein in podosome formation in macrophages.
- The Wiskott-Aldrich syndrome protein is required for the function of CD4+CD25+Foxp3+ regulatory T cells.
- Interaction of the Wiskott-Aldrich syndrome protein with sorting nexin 9 is required for CD28 endocytosis and cosignaling in T cells.
- Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis.
- WIP is a chaperone for Wiskott-Aldrich syndrome protein WASP.
- The expression of Wiskott-Aldrich syndrome protein WASP is dependent on WASP-interacting protein WIP.
- Hyaluronan-CD44 interaction with neural Wiskott-Aldrich syndrome protein N-WASP promotes actin polymerization and ErbB2 activation leading to beta-catenin nuclear translocation, transcriptional up-regulation, and cell migration in ovarian tumor cells.
- Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients.
- Increased expression of Wiskott-Aldrich syndrome protein family verprolin-homologous protein 2 correlated with poor prognosis of hepatocellular carcinoma.
- Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
- A complex of Wiskott-Aldrich syndrome protein with mammalian verprolins plays an important role in monocyte chemotaxis.
- Coexpression of actin-related protein 2 and Wiskott-Aldrich syndrome family verproline-homologous protein 2 in adenocarcinoma of the lung.
- Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion.
- Intrabodies against the EVH1 domain of Wiskott-Aldrich syndrome protein inhibit T cell receptor signaling in transgenic mice T cells.
- Protein-tyrosine kinase and GTPase signals cooperate to phosphorylate and activate Wiskott-Aldrich syndrome protein WASP/neuronal WASP.
- Characterization of an aldolase-binding site in the Wiskott-Aldrich syndrome protein.
- Actin-bound structures of Wiskott-Aldrich syndrome protein WASP-homology domain 2 and the implications for filament assembly.
- Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.
- Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.
- Molecular pathogenesis of Wiskott-Aldrich syndrome.
- Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome.
- The adapter protein CrkII regulates neuronal Wiskott-Aldrich syndrome protein, actin polymerization, and tension development during contractile stimulation of smooth muscle.
- The nucleotide switch in Cdc42 modulates coupling between the GTPase-binding and allosteric equilibria of Wiskott-Aldrich syndrome protein.
- The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappa B RelA independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement.
- Wiskott-Aldrich syndrome protein is needed for vaccinia virus pathogenesis.
- Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome.
- Wiskott-Aldrich syndrome: another piece in the puzzle.
- A neural Wiskott-Aldrich Syndrome protein-mediated pathway for localized activation of actin polymerization that is regulated by cortactin.
- Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein.
- ARPC1/Arc40 mediates the interaction of the actin-related protein 2 and 3 complex with Wiskott-Aldrich syndrome protein family activators.
- Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response.
- A neural-specific splicing event generates an active form of the Wiskott-Aldrich syndrome protein.
- Mutations of the Wiskott-Aldrich Syndrome Protein WASP: hotspots, effect on transcription, and translation and phenotype/genotype correlation.
- Differential roles for Wiskott-Aldrich syndrome protein in immune synapse formation and IL-2 production.
- Cutting edge: selective requirement for the Wiskott-Aldrich syndrome protein in cytokine, but not chemokine, secretion by CD4+ T cells.
- Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.
- Lymphocyte microvilli are dynamic, actin-dependent structures that do not require Wiskott-Aldrich syndrome protein WASp for their morphology.
- Cdc42 and the actin-related protein/neural Wiskott-Aldrich syndrome protein network mediate cellular invasion by Cryptosporidium parvum.
- Polarized hyphal growth in Candida albicans requires the Wiskott-Aldrich Syndrome protein homolog Wal1p.
- Signalling to actin assembly via the WASP Wiskott-Aldrich syndrome protein-family proteins and the Arp2/3 complex.
- Early deficit of lymphocytes in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation.
- Zyxin, axin, and Wiskott-Aldrich syndrome protein are adaptors that link the cadherin/catenin protein complex to the cytoskeleton at adherens junctions in the seminiferous epithelium of the rat testis.
- Identification of splicing variants of Rapostlin, a novel RND2 effector that interacts with neural Wiskott-Aldrich syndrome protein and induces neurite branching.
- Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein WASp tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation.
- Impaired signaling via the high-affinity IgE receptor in Wiskott-Aldrich syndrome protein-deficient mast cells.
- Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T- and B-cell lineages.
- SLP-76 coordinates Nck-dependent Wiskott-Aldrich syndrome protein recruitment with Vav-1/Cdc42-dependent Wiskott-Aldrich syndrome protein activation at the T cell-APC contact site.
- Defects in T-cell-mediated immunity to influenza virus in murine Wiskott-Aldrich syndrome are corrected by oncoretroviral vector-mediated gene transfer into repopulating hematopoietic cells.
- Isolated EBV lymphoproliferative disease in a child with Wiskott-Aldrich syndrome manifesting as cutaneous lymphomatoid granulomatosis and responsive to anti-CD20 immunotherapy.
- Involvement of Wiskott-Aldrich syndrome protein family verprolin-homologous protein WAVE and Rac1 in the phagocytosis of amyloid-beta1-42 in rat microglia.
- Efficient antigen presentation of soluble, but not particulate, antigen in the absence of Wiskott-Aldrich syndrome protein.
- A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott-Aldrich syndrome.
- Second-site mutation in the Wiskott-Aldrich syndrome WAS protein gene causes somatic mosaicism in two WAS siblings.
- Wiskott-Aldrich syndrome: the possibilities of diagnosis and treatment.
- Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype.
- Direct binding of a fragment of the Wiskott-Aldrich syndrome protein to the C-terminal end of the anaphylatoxin C5a receptor.
- Effects of ectopically expressed neuronal Wiskott-Aldrich syndrome protein domains on Rickettsia rickettsii actin-based motility.
- Neural Wiskott-Aldrich syndrome protein is recruited to rafts and associates with endophilin A in response to epidermal growth factor.
- Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice.
- Wiskott-Aldrich syndrome in a female.
- Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein.
- Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses.
- Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome WAS after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression.
- The Wiskott-Aldrich syndrome.
- Correction of the murine Wiskott-Aldrich syndrome phenotype by hematopoietic stem cell transplantation.
- Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein WASP, WASP-interacting protein WIP, and ELMO1.
- Neural Wiskott-Aldrich syndrome protein is involved in hepatocyte growth factor-induced migration, invasion, and tubulogenesis of epithelial cells.
- The novel adaptor protein, Mti1p, and Vrp1p, a homolog of Wiskott-Aldrich syndrome protein-interacting protein WIP, may antagonistically regulate type I myosins in Saccharomyces cerevisiae.
- Essential role of neural Wiskott-Aldrich syndrome protein in podosome formation and degradation of extracellular matrix in src-transformed fibroblasts.
- The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein WASp-mediated actin polymerization to T cell antigen receptor endocytosis.
- The rat homologue of Wiskott-Aldrich syndrome protein WASP-interacting protein WIP associates with actin filaments, recruits N-WASP from the nucleus, and mediates mobilization of actin from stress fibers in favor of filopodia formation.
- Activation of Arp2/3 complex by Wiskott-Aldrich Syndrome protein is linked to enhanced binding of ATP to Arp2.
- Overexpression of the Wiskott-Aldrich syndrome protein N-terminal domain in transgenic mice inhibits T cell proliferative responses via TCR signaling without affecting cytoskeletal rearrangements.
- Cdc42, Rac1, and the Wiskott-Aldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes.
- The verprolin-like central vc region of Wiskott-Aldrich syndrome protein induces Arp2/3 complex-dependent actin nucleation.
- Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.
- Identification of another actin-related protein Arp 2/3 complex binding site in neural Wiskott-Aldrich syndrome protein N-WASP that complements actin polymerization induced by the Arp2/3 complex activating VCA domain of N-WASP.
- Accidental busulfan overdose: enhanced drug clearance with hemodialysis in a child with Wiskott-Aldrich syndrome.
- CrkL is an adapter for Wiskott-Aldrich syndrome protein and Syk.
- Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome.
- Cutting edge: the Wiskott-Aldrich syndrome protein is required for efficient phagocytosis of apoptotic cells.
- A role for Wiskott-Aldrich syndrome protein in T-cell receptor-mediated transcriptional activation independent of actin polymerization.
- Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program.
- Coiling phagocytosis of Borrelia burgdorferi by primary human macrophages is controlled by CDC42Hs and Rac1 and involves recruitment of Wiskott-Aldrich syndrome protein and Arp2/3 complex.
- A novel neural Wiskott-Aldrich syndrome protein N-WASP binding protein, WISH, induces Arp2/3 complex activation independent of Cdc42.
- Wasp, the Drosophila Wiskott-Aldrich syndrome gene homologue, is required for cell fate decisions mediated by Notch signaling.
- Activation by Cdc42 and PIP2 of Wiskott-Aldrich syndrome protein WASp stimulates actin nucleation by Arp2/3 complex.
- Scar/WAVE-1, a Wiskott-Aldrich syndrome protein, assembles an actin-associated multi-kinase scaffold.
- Unrelated partially matched peripheral blood stem cell transplantation with highly purified CD34+ cells in a child with Wiskott-Aldrich syndrome.
- Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.
- The polarization defect of Wiskott-Aldrich syndrome macrophages is linked to dislocalization of the Arp2/3 complex.
- GRB2 links signaling to actin assembly by enhancing interaction of neural Wiskott-Aldrich syndrome protein N-WASp with actin-related protein ARP2/3 complex.
- Wiskott-Aldrich syndrome protein is necessary for efficient IgG-mediated phagocytosis.
- Essential role of neural Wiskott-Aldrich syndrome protein in neurite extension in PC12 cells and rat hippocampal primary culture cells.
- The Wiskott-Aldrich syndrome.
- Cdc42-interacting protein 4 mediates binding of the Wiskott-Aldrich syndrome protein to microtubules.
- Cutting edge: WIP, a binding partner for Wiskott-Aldrich syndrome protein, cooperates with Vav in the regulation of T cell activation.
- Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins.
- X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes.
- Wiskott-Aldrich syndrome: molecular pieces slide into place.
- Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression.
- WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction.
- Systemic vasculitis and aneurysm formation in the Wiskott-Aldrich syndrome.
- Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes.
- The Saccharomyces cerevisiae homologue of human Wiskott-Aldrich syndrome protein Las17p interacts with the Arp2/3 complex.
- Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42.
- Allogeneic peripheral blood stem cell transplantation in a Wiskott-Aldrich syndrome patient.
- Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.
- Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages.
- The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation.
- Flow cytometric analysis of Wiskott-Aldrich syndrome WAS protein in lymphocytes from WAS patients and their familial carriers.
- Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein WASP with WASP interacting protein.
- Involvement of wiskott-aldrich syndrome protein in B-cell cytoplasmic tyrosine kinase pathway.
- Syndapin I, a synaptic dynamin-binding protein that associates with the neural Wiskott-Aldrich syndrome protein.
- Collagen induces tyrosine phosphorylation of Wiskott-Aldrich syndrome protein in human platelets.
- The Wiskott-Aldrich syndrome protein-interacting protein WIP binds to the adaptor protein Nck.
- 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.
- A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes.
- X-linked Wiskott-Aldrich syndrome in a girl.
- A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein WASP gene in human hematopoietic cells.
- Neural Wiskott-Aldrich syndrome protein is implicated in the actin-based motility of Shigella flexneri.
- Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PSTPIP, a cytoskeletal-associated protein.
- WIP, a protein associated with wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells.
- X-linked Wiskott-Aldrich syndrome in a girl.
- Treatment of acyclovir-resistant herpes simplex virus keratitis in a patient with Wiskott-Aldrich syndrome.
- Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
- Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells.
- Expression of Wiskott-Aldrich syndrome protein WASP gene during hematopoietic differentiation.
- Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation.
- Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome.
- Multiple antigens are altered on T and B lymphocytes from peripheral blood and spleen of patients with Wiskott-Aldrich syndrome.
- Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains.
- Wiskott-Aldrich syndrome--a truly interdisciplinary problem.
- Fatal outcome of renal transplantation in a patient with the Wiskott-Aldrich syndrome.
- Wiskott-Aldrich syndrome is a "wonderful mystery".
- Studies of the expression of the Wiskott-Aldrich syndrome protein.
- The enigma of the Wiskott-Aldrich syndrome begins to unravel.
- Wiskott-Aldrich syndrome: report of an autosomal dominant variant.
- Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.
- Defects in Wiskott-Aldrich syndrome blood cells.
- Unrelated bone marrow transplantation in a Wiskott-Aldrich syndrome patient sharing two HLA-extended haplotypes with the donor.
- The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
- High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
- Expansion of large granular lymphocyte subsets in Wiskott-Aldrich syndrome.
- Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains.
- Evidence for antigenic selection of large granular lymphocytes in a patient with Wiskott-Aldrich syndrome.
- A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.
- Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
- Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.
0 comments:
Post a Comment