User menu

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Bibliographic reference Rauch, Anita ; Devriendt, Koenraad ; Hennekam, Raoul ; de Zegher, Francis ; et. al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. In: Science, Vol. 319, no. 5864, p. 816-819 (2008)
Permanent URL
  1. Hall Judith G., Flora Christina, Scott Charles I., Pauli Richard M., Tanaka Kimi I., Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings, 10.1002/ajmg.a.30203
  2. Majewski F., Ranke M., Schinzel A., Opitz John M., Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism, 10.1002/ajmg.1320120104
  3. Brancati, American journal of medical genetics. Part A, 139, 212 (2005)
  4. Hall, American journal of medical genetics. Part A, 140, 1356 (2006)
  5. Lander E., Botstein D, Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children, 10.1126/science.2884728
  6. Isken O., Maquat L. E., Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function, 10.1101/gad.1566807
  7. Flory M. R., Moser M. J., Monnat R. J., Davis T. N., Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin, 10.1073/pnas.97.11.5919
  8. Doxsey Stephen, Zimmerman Wendy, Mikule Keith, Centrosome control of the cell cycle, 10.1016/j.tcb.2005.04.008
  9. Takahashi M., Centrosomal Proteins CG-NAP and Kendrin Provide Microtubule Nucleation Sites by Anchoring gamma -Tubulin Ring Complex, 10.1091/mbc.e02-02-0112
  10. Zimmerman W. C., Mitosis-specific Anchoring of   Tubulin Complexes by Pericentrin Controls Spindle Organization and Mitotic Entry, 10.1091/mbc.e03-11-0796
  11. Stirling, Journal of Cell Science, 109, 1297 (1996)
  12. Stirling, Biochimica et Biophysica Acta. Protein Structure and Molecular Enzymology, 1499, 85 (2000)
  13. Muller H., Fogeron M.-L., Lehmann V., Lehrach H., Lange B. M. H., A Centrosome-Independent Role for  -TuRC Proteins in the Spindle Assembly Checkpoint, 10.1126/science.1132834
  14. Hanks Sandra, Coleman Kim, Reid Sarah, Plaja Alberto, Firth Helen, FitzPatrick David, Kidd Alexa, Méhes Károly, Nash Richard, Robin Nathanial, Shannon Nora, Tolmie John, Swansbury John, Irrthum Alexandre, Douglas Jenny, Rahman Nazneen, Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B, 10.1038/ng1449
  15. Argue Debbie, Donlon Denise, Groves Colin, Wright Richard, Homo floresiensis: Microcephalic, pygmoid, Australopithecus, or Homo?, 10.1016/j.jhevol.2006.04.013
  16. Brown P., Sutikna T., Morwood M. J., Soejono R. P., Jatmiko, Wayhu Saptomo E., Awe Due Rokus, A new small-bodied hominin from the Late Pleistocene of Flores, Indonesia, 10.1038/nature02999
  17. Falk D., The Brain of LB1, Homo floresiensis, 10.1126/science.1109727
  18. Falk D., Hildebolt C., Smith K., Morwood M. J., Sutikna T., Jatmiko, Saptomo E. W., Imhof H., Seidler H., Prior F., Brain shape in human microcephalics and Homo floresiensis, 10.1073/pnas.0609185104
  19. Martin, The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology, 288, 1123 (2006)
  20. RICHARDS GARY D., Genetic, physiologic and ecogeographic factors contributing to variation in Homo sapiens: Homo floresiensis reconsidered, 10.1111/j.1420-9101.2006.01179.x
  21. Culotta E., PALEOANTHROPOLOGY: The Fellowship of the Hobbit, 10.1126/science.317.5839.740
  22. Tocheri M. W., Orr C. M., Larson S. G., Sutikna T., Jatmiko, Saptomo E. W., Due R. A., Djubiantono T., Morwood M. J., Jungers W. L., The Primitive Wrist of Homo floresiensis and Its Implications for Hominin Evolution, 10.1126/science.1147143