A novel mutation in PTPRC interferes with splicing and alters the structure of the human CD45 molecule

Immunogenetics

Volumn 54, Issue 3, 2002, Pages 158-163

  Jacobsen, Marc ^a,b   Hoffmann, Steve ^a,b   Cepok, Sabine ^a,b   Stei, Susanne ^a,b   Ziegler, Andreas ^a,b   Sommer, Norbert ^a,b   Hemmer, Bernhard ^a,b  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Alternative splicing; Autoimmunity; CD45; Multiple sclerosis; PTPRC

Indexed keywords

CD45 ANTIGEN; CELL RECEPTOR; DNA; PROTEIN TYROSINE PHOSPHATASE RECEPTOR TYPE C; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANTIGEN BINDING; ANTIGEN EXPRESSION; ANTIGEN STRUCTURE; ARTICLE; AUTOIMMUNE DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; EXON; HUMAN; HUMAN CELL; MEMORY CELL; MONOCYTE; MULTIPLE SCLEROSIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

ALTERNATIVE SPLICING; ANTIGENS, CD45; BASE SEQUENCE; CELL LINE; HUMANS; MONOCYTES; MULTIPLE SCLEROSIS; PEDIGREE; POINT MUTATION; PROTEIN ISOFORMS; T-LYMPHOCYTES;

EID: 0036082504     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00251-002-0455-7     Document Type: Article

References (27)

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2. Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45
3. CD45 is a JAK phosphatase and negatively regulates cytokine receptor signalling
4. A point mutation in PTPRC is associated with the development of multiple sclerosis
5. Normal B lymphocyte development but impaired T cell maturation in CD45-exon6 protein tyrosine phosphatase-deficient mice
6. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease
7. The extracellular domain of CD45 controls association with the CD4-T cell receptor complex and the response to antigen-specific stimulation
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14. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
15. Isoforms of the transmembrane tyrosine phosphatase CD45 differentially affect T cell recognition
16. Differential regulation of activation-induced tyrosine phosphorylation and recruitment of SLP-76 to Vav by distinct isoforms of the CD45 protein-tyrosine phosphatase
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26. Differential activation of human autoreactive T cell clones by altered peptide ligands derived from myelin basic protein peptide (87-99)
27. Does 77C→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?