• KOL
  • Disease
  • Aldrich
  • Aldrich Syndrome
  • Hans Dieter Ochs
  •  

    Prominent publications by Hans Dieter Ochs

    KOL Index score: 14941

    The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic tyrosine kinases, contains Src homology domains (SH2 and SH3), and catalytic kinase domain. SH3 domains are important for the targeting of signaling molecules to specific subcellular locations. We have identified a family with XLA whose ...

    Also Ranks for: Tyrosine Kinase |  src homology |  xla btk |  linked agammaglobulinemia |  sh3 domains
    KOL Index score: 14689

    Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), caused by mutations of the WAS protein (WASP) gene, represent different phenotypes of the same disease. To demonstrate a phenotype/genotype correlation, we determined WASP gene mutations in 48 unrelated WAS families. Mutations included missense (20 families) and nonsense (eight) mutations located mostly in exons 1 to 4, and splice-site mutations (seven) and deletions and insertions (13) located preferentially in exons 7 ...

    Also Ranks for: Wasp Gene |  missense mutations |  protein expression |  aldrich syndrome |  linked thrombocytopenia
    KOL Index score: 14616

    Bruton's tyrosine kinase (Btk) is essential for B-lineage development and represents an emerging family of non-receptor tyrosine kinases implicated in signal transduction events initiated by a range of cell surface receptors. Increased dosage of Btk in normal B cells resulted in a striking enhancement of extracellular calcium influx following B-cell antigen receptor (BCR) cross-linking. Ectopic expression of Btk, or related Btk/Tec family kinases, restored deficient extracellular Ca2+ ...

    Also Ranks for: Tec Kinases |  signal transduction |  intracellular ca2 |  receptor activation |  sustained increases
    KOL Index score: 14259

    X-linked lymphoproliferative syndrome (XLP; Duncan's disease) is a primary immunodeficiency disease that manifests as an inability to regulate the immune response to Epstein-Barr virus (EBV) infection. Here we examine the ability of the product of the gene defective in XLP, SAP (DSHP/SH2D1A), to associate with the cytoplasmic domains of several members of the CD2 subfamily of cell surface receptors, including SLAM, 2B4, and CD84. While recruitment of SAP to SLAM occurred in a ...

    Also Ranks for: Slam Cd84 |  cytoplasmic domains |  protein tyrosine |  nonreceptor type |  linked lymphoproliferative
    KOL Index score: 14241

    Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by mutations of the WAS protein (WASP) gene. All hematopoietic stem cell-derived lineages, including platelets, express WASP. Platelets from WAS patients are smaller than their normal counterparts and defects in platelet aggregation and actin polymerization have been reported. To determine if WASP is important for normal platelet function, we examined its role in signal transduction. We found that collagen but ...

    Also Ranks for: Tyrosine Phosphorylation |  aldrich syndrome |  human platelets |  platelet aggregation |  protein wasp
    KOL Index score: 14087

    Wiskott-Aldrich syndrome protein (WASP) is in a complex with WASP-interacting protein (WIP). WASP levels, but not mRNA levels, were severely diminished in T cells from WIP(-/-) mice and were increased by introduction of WIP in these cells. The WASP binding domain of WIP was shown to protect WASP from degradation by calpain in vitro. Treatment with the proteasome inhibitors MG132 and bortezomib increased WASP levels in T cells from WIP(-/-) mice and in T and B lymphocytes from two WAS ...

    Also Ranks for: Aldrich Syndrome |  wip wasp |  mice mice |  proteasome inhibitors |  missense mutations
    KOL Index score: 13284

    Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia are caused by mutations of the WAS protein (WASP) gene. WASP may be involved in the regulation of podosome, an actin-rich dynamic cell adhesion structure formed by various types of cells. The molecular links between WASP and podosomes or other cell adhesion structures are unknown. Platelets express an SH2-SH3 adapter molecule, CrkL, that can directly associate with paxillin, which is localized in podosomes. The hypothesis that ...

    Also Ranks for: Aldrich Syndrome |  binding crkl |  protein wasp |  tyrosine kinase |  sh3 domain
    KOL Index score: 13029

    BACKGROUND: Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with pneumatocele formation, Candida infections, and skeletal/connective tissue abnormalities. Recently it was shown that heterozygous signal transducer and activator of transcription 3 (STAT3) mutations cause autosomal-dominant HIES.

    OBJECTIVE: To determine the spectrum and functional consequences of heterozygous STAT3 mutations in ...

    Also Ranks for: Stat3 Phosphorylation |  signal transducer |  patients hies |  ige syndrome |  th17 cell
    KOL Index score: 12880

    2B4 is a surface molecule involved in activation of the natural killer (NK) cell-mediated cytotoxicity. It binds a protein termed Src homology 2 domain-containing protein (SH2D1A) or signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), which in turn has been proposed to function as a regulator of the 2B4-associated signal transduction pathway. In this study, we analyzed patients with X-linked lymphoproliferative disease (XLP), a severe inherited immunodeficiency ...

    Also Ranks for: Proteins Killer Cells |  cell lines |  lymphoproliferative disease |  preschool dna |  activation molecule
    KOL Index score: 12660

    BACKGROUND & AIMS: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX; OMIM 304930) syndrome is a congenital syndrome characterized by autoimmune enteropathy, endocrinopathy, dermatitis, and other autoimmune phenomena. In the present work, we aimed to uncover the molecular basis of a distinct form of IPEX syndrome presenting at the edge of autoimmunity and severe allergy.

    METHODS: The FOXP3 gene was sequenced, FOXP3 messenger RNA (mRNA) was quantified by real-time ...

    Also Ranks for: Ipex Syndrome |  foxp3 gene |  regulatory cells |  intestinal diseases |  protein expression
    KOL Index score: 12610

    The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have suggested that AT heterozygotes may also be at increased risk for malignancy, possibly as a consequence of radiation exposure. A gene mutated in AT patients (ATM) has recently been isolated, making mutation screening in both patients and the ...

    Also Ranks for: Atm Gene |  proteins ataxia |  protein truncation |  compound heterozygotes |  epidemiological studies
    KOL Index score: 12416

    Abstract

    Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), caused by mutations of the WAS protein (WASP) gene, represent different phenotypes of the same disease. To demonstrate a phenotype/genotype correlation, we determined WASP gene mutations in 48 unrelated WAS families. Mutations included missense (20 families) and nonsense (eight) mutations located mostly in exons 1 to 4, and splice-site mutations (seven) and deletions and insertions (13) located ...

    Also Ranks for: Protein Expression |  wasp gene |  missense mutations |  linked thrombocytopenia |  aldrich syndrome

     

    Hans Dieter Ochs: Influence Statistics

    Sample of concepts for which Hans Dieter Ochs is among the top experts in the world.
    Concept World rank
    cd40lbase cd40l mutations #1
    efficacy ivig infusions #1
    scd40l blockade #1
    ambrisentan tumor cells #1
    animals 50 donor #1
    diagnosis years survivors #1
    localized form teeth #1
    paracoccidioides brasiliensis ability #1
    xla symptoms #1
    wasp inkt cells #1
    adult female volunteers #1
    degree lad cells #1
    syndromic cid #1
    igg levels development #1
    neoantigen bacteriophage #1
    mmf monoclonal antibody #1
    apsid primary immunodeficiency #1
    wasp crkl #1
    higher level hdbronly #1
    xlp viral bacteriophage #1
    analysis wasp expression #1
    defective antibody #1
    subjects rit #1
    cells fcrn inhibitors #1
    xla bacterial antigens #1
    intestine ipex patient #1
    pap cd40l gene #1
    il10 deficiency patients #1
    plasma lots #1
    flow cytometry contributions #1
    classification pid #1
    proliferation survival rp105 #1
    seer subjects #1
    occ pps #1
    11 1 episode #1
    endothelium monoclonal antibodies #1
    rela cellcell contact #1
    male zinc a46 #1
    unique patient identity #1
    mutations cd40 #1
    cdc42binding site #1
    mec frequencies controls #1
    neutrophil adherence tnf #1
    jnk tyrosine kinase #1
    thymus tlymphocytes #1
    slam recruitment #1
    cd40l aid #1
    gene cd40 #1
    phix174 rituximab #1

    Key People For Aldrich Syndrome

    Top KOLs in the world
    #1
    Hans Dieter Ochs
    aldrich syndrome immune dysregulation cd40 ligand
    #2
    Fred S Rosen
    aldrich syndrome hereditary angioneurotic edema cell lines
    #3
    Luigi Daniele Notarangelo
    primary immunodeficiencies combined immunodeficiency aldrich syndrome
    #4
    Adrian James Thrasher
    gene therapy aldrich syndrome stem cells
    #5
    R Michael Blaese
    gene therapy aldrich syndrome adenosine deaminase
    #6
    Uta Francke
    human chromosome marfan syndrome situ hybridization

    Hans Dieter Ochs:Expert Impact

    Concepts for whichHans Dieter Ochshas direct influence:Aldrich syndrome,  Immune dysregulation,  Cd40 ligand,  Usidnet registry,  Primary immunodeficiency,  International union,  Intravenous immunoglobulin,  Tyrosine kinase.

    Hans Dieter Ochs:KOL impact

    Concepts related to the work of other authors for whichfor which Hans Dieter Ochs has influence:Regulatory cells,  Gene therapy,  Chronic granulomatous disease,  Primary immunodeficiencies,  Common variable immunodeficiency,  Aldrich syndrome,  Inborn errors.


     

    Tools

    Is this your profile? manage_accounts Claim your profile content_copy Copy URL code Embed Link to your profile


    Division of Immunology, Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA | Department of Pediatrics, University of Washington School of Medicine, Seattle Children’s Research Institute, Sea