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 |
| 巻 | 81 |
| DOI | |
| 出版物ステータス | 出版済み - 12 1 2016 |
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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
}
TY - JOUR
T1 - Treacher Collins syndrome
T2 - New insights from animal models
AU - Tse, Ka Fai William
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84994338321&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84994338321&partnerID=8YFLogxK
U2 - 10.1016/j.biocel.2016.10.016
DO - 10.1016/j.biocel.2016.10.016
M3 - Review article
C2 - 27777025
AN - SCOPUS:84994338321
VL - 81
SP - 44
EP - 47
JO - International Journal of Biochemistry and Cell Biology
JF - International Journal of Biochemistry and Cell Biology
SN - 1357-2725
ER -