V Tiziani

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc 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. pmc 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 request reprint 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

  • B R Olsen
  • J B Mulliken
  • Andrew Lidral
  • H Peters
  • Y Ueki
  • E Reichenberger
  • C Santanna
  • R J Gorlin
  • J Garfinkle
  • D K Grange
  • A Sommer
  • N Fukai
  • L Rhee-Morris
  • M Habal
  • S Kreiborg
  • C Maulik
  • R Shiang
  • P Beighton
  • C M Raposo Do Amaral
  • S Sellars
  • C Ninomiya
  • J Gardner
  • C doAmaral
  • J B Doss
  • S T Baur
  • H Hamersma
  • L Park
  • R Ramesar
  • S Watanabe

Detail Information

Publications3

  1. pmc 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. pmc 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 request reprint 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...