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Showing 1–3 of 3 results
Advanced filters: Author: "Timothy W. Behrens" Clear advanced filters

  • Two new studies show that mutations in tartrate-resistant acid phosphatase (TRAP) cause spondyloenchondrodysplasia, a rare recessive disease associated with short stature, brain calcifications and lupus-like autoimmunity. The complex clinical syndrome is probably mediated by impaired dephosphorylation of osteopontin.

    • Timothy W Behrens
    • Robert R Graham
    News & Views
    Nature Genetics
    Volume: 43, P: 90-91

  • A new study shows that the PTPN22 coding variant associated with autoimmunity is a loss-of-function allele that causes the protein tyrosine phosphatase encoded by PTPN22 to undergo accelerated degradation, resulting in enhanced signaling in several immune cell types.

    • Timothy W Behrens
    News & Views
    Nature Genetics
    Volume: 43, P: 821-822