Treacher Collins syndrome

New insights from animal models

研究成果: ジャーナルへの寄稿評論記事

6 引用 (Scopus)

抄録

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.

元の言語英語
ページ(範囲)44-47
ページ数4
ジャーナルInternational Journal of Biochemistry and Cell Biology
81
DOI
出版物ステータス出版済み - 12 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

これを引用

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

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

研究成果: ジャーナルへの寄稿評論記事

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