Wiskott-Aldrich
Hüfner, Katharina (2004): Untersuchungen zur Funktion von WASp (Wiskott-Aldrich Syndrom Protein) bei der Regulation der Aktin Nukleation in vitro und in primären humanen Makrophagen. Dissertation, LMU München: Medizinische Fakultät
... Die 1999/2000 begonnenen Experimente für diese Dissertationsarbeit hatten zum Ziel, den Mechanismus der WASp-abhängigen Aktin Nukleation in vitro und in humanen Makrophagen genauer zu untersuchen. Einerseits sollten die ...
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Second site mutation in the Wiskott Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
... Revertant mosaicism due to true back mutations or second-site mutations has been identified in several inherited disorders. The occurrence of revertants is considered rare, and the underlying genetic mechanisms remain ...
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Binder, Vera (2007): Das Wiskott-Aldrich Syndrom. Eine Gegenüberstellung der klinischen Erstbeschreibung (1937) mit dem aktuellen Wissen über die Rolle des Wiskott-Aldrich Proteins (WASP). Molekulargenetische Untersuchung der erstbeschriebenen Familie in drei Generationen. Analyse zur Verteilung und Häufigkeit der Mutationen sowie zur Genotyp-Phänotyp-Korrelation beim Wiskott-Aldrich Syndrom.. Dissertation, LMU München: Medizinische Fakultät
... Im Rahmen dieser Arbeit wurde deutlich gemacht, dass es sich beim Wiskott-Aldrich Syndrom um ein Krankheitsbild mit breitester phänotypischer Ausprägung handelt. Diese phänotypische Breite lässt sich ...
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Nuclear Wiskott–Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells
... WASp is uniquely expressed in hematopoietic cells and its role for their normal function have been exten- sively studied in Wiskott–Aldrich syndrome (WAS) pa- tients that lack expression of WASp and in ...
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Mycolactone activation of Wiskott Aldrich syndrome proteins underpins Buruli ulcer formation
... Given the pivotal role played by the cytoskeleton in controlling many biological processes, we reasoned that a common denomi- nator of the activities described above could be alterations in actin dynamics. Our ...
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Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott Aldrich syndrome: A unique disorder of serum protein metabolism
... The Wiskott-Aldrich syndrome is an immune deficiency disorder with an impairment of both humoral and cellular immune ...the Wiskott-Aldrich syndrome using purified radioiodinated ...
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Abnormalities of Chemotactic Lymphokine Synthesis and Mononuclear Leukocyte Chemotaxis in Wiskott Aldrich Syndrome
... from Wiskott-Aldrich syndrome patients was impaired, particularly in those patients with the highest rates of unstimulated LDCF ...from Wiskott-Aldrich syndrome ...in ...
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Dendritic cell defects in Wiskott-Aldrich Syndrome
... m ild WAS but missense mutations elsewhere and other types o f mutations, found predominantly in exons 6-11, give rise to a range o f illness severity (Derry et al, 1995; Zhu et al, 1997; Lemahieu et al, 1999), making ...
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Neural Wiskott Aldrich syndrome protein modulates Wnt signaling and is required for hair follicle cycling in mice
... function. Wiskott-Aldrich syndrome family proteins act downstream of these GTPases, control- ling actin assembly and cytoskeletal reorganization, but their role in epithelial cells has not been ...
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Evidence for defective transmembrane signaling in B cells from patients with Wiskott Aldrich syndrome
... disorder, Wiskott-Aldrich syndrome (WAS), fail to produce antibodies in response to stimulation with polysaccharides and other type-2 T cell-independent ...
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Identification and characterisation of the interaction between Wiskott-Aldrich syndrome protein (WASP) and c-Src kinases
... for Wiskott-Aldrich Syndrome Protein, and mutations in the WASP gene were found to be responsible for classical WAS and attenuated forms of WAS, including isolated X-linked thrombocytopenia (Remold et a ...
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Lentiviral mediated gene therapy restores B cell tolerance in Wiskott Aldrich syndrome patients
... patients irrespectively of age and disease severity scores (14, 17, 18). Human WASp-deficient memory B cells showed a preferential usage of variable Ig heavy chain VH4-34, a gene segment encod- ing intrinsically ...
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Polarized Hyphal Growth in Candida albicans Requires the Wiskott-Aldrich Syndrome Protein Homolog Wal1p
... The yeast-to-hypha transition is a key feature in the cell biology of the dimorphic human fungal pathogen Candida albicans. Reorganization of the actin cytoskeleton is required for this dimorphic switch in Candida. We ...
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A Novel Site Mutation in A Wiskott-Aldrich Syndrome Boy: A Case Report
... Wiskott-Aldrich syndrome (WAS) is a sort of X-linked rare disorder which dominantly affects male infants. The incidence of WAS is around 3-10 per million babies. It was first reported by Wiskott in ...
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Wiskott Aldrich syndrome protein is required for regulatory T cell homeostasis
... Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder characterized by opportunistic, viral, and bacterial infections due to abnormal lymphocyte function. Affected individuals also have ...
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Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome
... Aortic aneurysms are a rare condition in children. Here we report the occurrence of aortic aneurysms in 5 children with Wiskott-Aldrich syn- drome (WAS). Three patients had a WAS score of 4, and 2 patients ...
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Studies of the expression of the Wiskott Aldrich syndrome protein
... The Wiskott-Aldrich syndrome (WAS) is an X-linked disor- der characterized by thrombocytopenia, eczema, disorders in cell-mediated and humoral immunity, and a proclivity to lymphoproliferative ...
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The Wiskott Aldrich Syndrome: RESULTS OF TRANSFER FACTOR THERAPY
... 12 patients with Wiskott-Aldrich syndrome were treated with therapeutic doses of transfer factor in an attempt to induce cellular immunity. Clinical improvement was noted after transfer factor therapy in 7 ...
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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
... thrombocytopenia (XLT) and Wiskott-Aldrich syn- drome (WAS) [4, 5]. In this manuscript, we describe two unrelated patients with an intermittent pattern of thrombocytopenia, who were previously diagnosed as ...
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Wiskott-Aldrich Syndrome Protein Is Needed for Vaccinia Virus Pathogenesis
... Although smallpox has been eradicated, little is known of the mechanisms responsible for the high mortality rate due to this disease (9, 21). Since vaccination has been discontinued (9), recent acts of bioterrorism and ...
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