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  • Genetic and cellular mechanisms of hematopoietic dysregulation in murine motheaten phenotypes = Genetski in celični vidiki neuravnane hematopoeze pri moljastih miših
    Mlinarič-Raščan, Irena
    Immunideficientnost and autoimmune motheaten (me) and motheaten viable (mev) mice have been characterised by defects in multiple hematopoietic cell lineages, with a marked reduction of lymphocytes ... and an excess of cells of myelo-monocytic origin. Spontaneously occured autosomal recessive genetic defects of motheaten phenotypes are due to the loss-of-function mutations in the gene encoding a cytoplasmic phosphotyrosine phosphate SHP-1. In me, a deletion of cytidine (C228) within the N-terminal SH2 domain changes the reading frame resulting in a premature stop codon. In mev another single pointmutation thymine to adenine (T-A1074) transversion in the catalytic domain destroys a normal 5' splice site resulting in alternative splicing, anda production of multiple isoformes of catalyticly impared enzyme. SHP-1 is predominantly expressed in hematopoietic and epithelial cells. The physiological role of the SHP-1 is in signal transduction; hence it acts as negative regulator of cell growth.
    Vir: Acta biologica slovenica : ABS. - ISSN 1408-3671 (Letn. 43, št. 1/2, 2000, str. 41-46)
    Vrsta gradiva - članek, sestavni del
    Leto - 2000
    Jezik - angleški
    COBISS.SI-ID - 13140441

vir: Acta biologica slovenica : ABS. - ISSN 1408-3671 (Letn. 43, št. 1/2, 2000, str. 41-46)

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