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Treacher Collins syndrome.
Orthod Craniofac Res 2007; 10(2):88-95OC

Abstract

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss-of-function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre-ribosomal processing and ribosomal biogenesis. In mice, haploinsufficiency of Tcof1 results in a depletion of neural crest cell precursors through high levels of cell death in the neuroepithelium, which results in a reduced number of neural crest cells migrating into the developing craniofacial complex. These combined advances have already impacted on clinical practice and provide invaluable resources for the continued dissection of the developmental basis of TCS.

Authors+Show Affiliations

School of Dentistry, University of Manchester, Manchester, UK.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

17552945

Citation

Dixon, Jill, et al. "Treacher Collins Syndrome." Orthodontics & Craniofacial Research, vol. 10, no. 2, 2007, pp. 88-95.
Dixon J, Trainor P, Dixon MJ. Treacher Collins syndrome. Orthod Craniofac Res. 2007;10(2):88-95.
Dixon, J., Trainor, P., & Dixon, M. J. (2007). Treacher Collins syndrome. Orthodontics & Craniofacial Research, 10(2), pp. 88-95.
Dixon J, Trainor P, Dixon MJ. Treacher Collins Syndrome. Orthod Craniofac Res. 2007;10(2):88-95. PubMed PMID: 17552945.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Treacher Collins syndrome. AU - Dixon,Jill, AU - Trainor,Paul, AU - Dixon,Michael J, PY - 2007/6/8/pubmed PY - 2007/7/27/medline PY - 2007/6/8/entrez SP - 88 EP - 95 JF - Orthodontics & craniofacial research JO - Orthod Craniofac Res VL - 10 IS - 2 N2 - Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss-of-function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre-ribosomal processing and ribosomal biogenesis. In mice, haploinsufficiency of Tcof1 results in a depletion of neural crest cell precursors through high levels of cell death in the neuroepithelium, which results in a reduced number of neural crest cells migrating into the developing craniofacial complex. These combined advances have already impacted on clinical practice and provide invaluable resources for the continued dissection of the developmental basis of TCS. SN - 1601-6335 UR - https://www.unboundmedicine.com/medline/citation/17552945/Treacher_Collins_syndrome_ L2 - https://doi.org/10.1111/j.1601-6343.2007.00388.x DB - PRIME DP - Unbound Medicine ER -