| Wiskott-Aldrich syndrome (role of WASP). | |
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MedLine Citation:
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PMID: 12160237 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. WASP, the gene responsible for WAS, has been identified by positional cloning, contains a PH domain, a GBD domain, a proline rich region, and a verprolin/cofilin homology domain. Subsequent studies suggest that WASP is involved in signal transduction and in the regulation of the cytoskeleton. |
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Authors:
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S Nonoyama |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Journal of medical and dental sciences Volume: 48 ISSN: 1342-8810 ISO Abbreviation: J. Med. Dent. Sci. Publication Date: 2001 Mar |
Date Detail:
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Created Date: 2002-08-05 Completed Date: 2002-08-30 Revised Date: 2010-04-12 |
Medline Journal Info:
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Nlm Unique ID: 9717112 Medline TA: J Med Dent Sci Country: Japan |
Other Details:
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Languages: eng Pagination: 1-6 Citation Subset: D; IM |
Affiliation:
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Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Japan. snonoyama.ped@tmd.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Actin Depolymerizing Factors Amino Acid Motifs / genetics Blood Platelets / metabolism Blood Proteins / genetics Carrier Proteins / genetics Cytoskeletal Proteins Cytoskeleton / ultrastructure Fungal Proteins / genetics GTP Phosphohydrolases / metabolism Genotype Humans Intracellular Signaling Peptides and Proteins Microfilament Proteins / genetics Mutation / genetics Phenotype Phosphoproteins / genetics Proline / genetics Protein Binding / genetics Protein Structure, Tertiary / genetics Proteins / genetics* Saccharomyces cerevisiae Proteins* Sequence Homology Signal Transduction / genetics Wiskott-Aldrich Syndrome / genetics*, immunology Wiskott-Aldrich Syndrome Protein |
| Chemical | |
Reg. No./Substance:
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0/Actin Depolymerizing Factors; 0/Blood Proteins; 0/Carrier Proteins; 0/Cytoskeletal Proteins; 0/Fungal Proteins; 0/Intracellular Signaling Peptides and Proteins; 0/Microfilament Proteins; 0/Phosphoproteins; 0/Proteins; 0/Saccharomyces cerevisiae Proteins; 0/VRP1 protein, S cerevisiae; 0/WAS protein, human; 0/WIPF1 protein, human; 0/Wiskott-Aldrich Syndrome Protein; 0/platelet protein P47; 147-85-3/Proline; EC 3.6.1.-/GTP Phosphohydrolases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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