V Tiziani

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi The gene for cherubism maps to chromosome 4p16
    V Tiziani
    Department of Cell Biology, Harvard Medical School and Harvard Forsyth Boston, MA, USA
    Am J Hum Genet 65:158-66. 1999
  2. ncbi Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
    E Reichenberger
    Harvard Forsyth Department of Oral Biology, The Forsyth Institute, Harvard School of Dental Medicine, and Department of Cell Biology, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 68:1321-6. 2001
  3. ncbi Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
    Y Ueki
    Harvard Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 28:125-6. 2001

Collaborators

Detail Information

Publications3

  1. ncbi The gene for cherubism maps to chromosome 4p16
    V Tiziani
    Department of Cell Biology, Harvard Medical School and Harvard Forsyth Boston, MA, USA
    Am J Hum Genet 65:158-66. 1999
    ..Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM...
  2. ncbi Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
    E Reichenberger
    Harvard Forsyth Department of Oral Biology, The Forsyth Institute, Harvard School of Dental Medicine, and Department of Cell Biology, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 68:1321-6. 2001
    ..These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization...
  3. ncbi Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
    Y Ueki
    Harvard Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 28:125-6. 2001
    ..Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism...