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TWIST1

Sunday 3 April 2005

Basic helix-loop-helix transcription factor.

Pathology

- Autosomal dominant mutation in Twist1 gene

  • Saethre-Chotzen syndrome with limb and craniofacial defects (MIM.101400)
  • Baller-Gerold syndrome (MIM.218600) with cranial synostosis and unilateral radial aplasia
  • Robinow-Sorauf syndrome (MIM.180750)

Reference

- Biological roles and prognostic values of the epithelial-mesenchymal transition-mediating transcription factors Twist, ZEB1 and Slug in diffuse large B-cell lymphoma. Lemma S, Karihtala P, Haapasaari KM, Jantunen E, Soini Y, Bloigu R, Pasanen AK, Turpeenniemi-Hujanen T, Kuittinen O. Histopathology. 2012 Jul 26. PMID: #23190132#

- Howard, T. D.; Paznekas, W. A.; Green, E. D.; Chiang, L. C.; Ma, N.; Ortiz De Luna, R. I.; Delgado, C. G.; Gonzalez-Ramos, M.; Kline, A. D.; Jabs, E. W. : Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15: 36-41, 1997. PubMed ID : #8988166#

- Johnson, D.; Horsley, S. W.; Moloney, D. M.; Oldridge, M.; Twigg, S. R. F.; Walsh, S.; Barrow, M.; Njolstad, P. R.; Kunz, J.; Ashworth, G. J.; Wall, S. A.; Kearney, L.; Wilkie, A. O. M. : A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am. J. Hum. Genet. 63: 1282-1293, 1998. PubMed ID : #9792856#