Treacher Collins syndrome: New insights from animal models

Research output: Contribution to journalReview article

6 Citations (Scopus)

Abstract

Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al., 2016; Noack Watt et al., 2016) and discussed the possibility of using the anti-oxidants to prevent or rescue the TCS facial phenotype (Sakai et al., 2016). Taken together, this article provides an update on the disease from basic information to pathogenesis, and further summarizes the suggested therapies from recent laboratory research.

Original languageEnglish
Pages (from-to)44-47
Number of pages4
JournalInternational Journal of Biochemistry and Cell Biology
Volume81
DOIs
Publication statusPublished - Dec 1 2016

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Mandibulofacial Dysostosis
Animals
Animal Models
Genetic Databases
Mutation
Live Birth
Zebrafish
Research laboratories
Oxidants
Phenotype
Research
Therapeutics

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Cell Biology

Cite this

Treacher Collins syndrome : New insights from animal models. / Tse, Ka Fai William.

In: International Journal of Biochemistry and Cell Biology, Vol. 81, 01.12.2016, p. 44-47.

Research output: Contribution to journalReview article

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