蔡佩倩 - 助理教授
蔡佩倩 助理教授 繁體中文 English
專任教師
生醫科技
04-22840416#415、416

基因體學, 細胞與分子生物學, 基因檢測與分子診斷技術, 遺傳性神經疾病致病基因與蛋白質功能性分析

學歷

畢業學校 主修學門系所 學位 時期
國立台灣大學 農業化學系 學士  
國立台灣大學 農業化學所 碩士  
North Carolina State University, USA Comparative Biomedical Sciences Ph.D.

經歷 / 榮譽

經歷

服務機關 服務部門 職稱 時期
國立中興大學 生命科學系 助理教授 2019/8 迄今
臺北榮民總醫院 神經醫學中心 博士後研究員

榮譽

年份

標題

2009

Honor as a presenter of CBS program at the 4th Annual NC State Graduate Student Research Symposium in recognition of outstanding research

2015

103年度科技部 - 博士後研究人員學術著作獎

2017

第二屆用愛解凍:漸凍人研究獎

2018

第三屆用愛解凍:漸凍人研究獎

2018

Travel Fellowship - International Conference on Pan-Asian Consortium for Treatment and Research in ALS

研究方向

  • 本研究室主要進行遺傳性神經疾病之基因研究,可分為幾個進程與面相:

(1)利用基因定序技術以及生物資訊學等方法,尋找病人的致病基因, 協助病患在基因層面上確診
(2)建立疾病細胞模式,研究致病基因突變對於蛋白質功能以及細胞生理的影響, 研究可能的分子致病機制
(3)分析遺傳性神經疾病之基因型、表現型以及突變基因功能影響三者之間的關聯性
(4)利用基因編輯技術、動物模式等方法學,進一步驗證之前在細胞層次對於致病機制或是可能療法的發現, 奠立將來發展相對應、個人化的精準醫學治療策略之基礎。

  • 目前研究室正在進行的神經遺傳疾病的研究項目包含:

遺傳性運動感覺神經病變(HMSN/CMT)、漸凍人症(ALS)、遺傳性痙攣性下身麻痺症(HSP)、遺傳性腦中風/遺傳性腦部小血管病變  (CADASIL and CARASIL)、以及核苷酸重複序列疾病等疾病。

期刊論文

 
C. T. Hsiao, T. Y. Tsai, T. Y. Shen, Y. S. Tsai, Y. C. Liao, Y. C. Lee, P. C. Tsai. 2024/5 Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia. Annals of Clinical and Translational Neurology. (accepted)
S.Y. Fang, P. C. Tsai, K. Y. Jih, F. C. Hsu, S. J. Fu, Y. C. Liao, C. C. Yang, Y. C. Lee. 2024/05 TBK1 p.Y153Qfs*9 variant may associate with young onset, rapidly progressive ALS through a haploinsufficiency mechanism. J Chin Med Assoc. (Accepted)
Chao-Yu Hsu, Jyun-Yi Li, En-Ying Yang, Tsai-Ling Liao, Hsiao-Wei Wen, Pei-Chien Tsai,Tz-Chuen Ju, Lon-Fye Lye, Brent L. Nielsen, Hung-Jen Liu.(2024/7) The Oncolytic Avian Reovirus p17 Protein Inhibits Invadopodia Formation in Murine Melanoma Cancer Cells by Suppressing the FAK/Src Pathway and the Formation of theTKs5/NCK1 Complex. Viruses. (accepted)
Yu-Kang Chang, Yi-Jyum Lin, Ching-Yuan Cheng, Pei-Chien Tsai, Chi-Young Wang, Brent L. Nielsen, Hung-Jen Liu. 2014/2. Nucleocytoplasmic shuttling of BEFV M protein-modulated by lamin A/C and chromosome maintenance region 1 through a transcription-, carrier and energy-dependent pathway.Veterinary Microbiology. 10:291:110026
Chao-Yu Hsu,Yun Jang,Wei-Ru Huang,Chi-Young Wang,Hsiao-Wei Wen, Pei-Chien Tsai,Cheng-YaoYang, Muhammad Munir, Hung-Jen Liu. (2023). Development of polycistronic vaculovirus surface display vectors to simultaneously express viral proteins of porcine reproductive and respiratory syndrome and analysis of their immunogenicity in swine. Vaccines,11(11):1666. (SCI)
Shih-Yu Fang, Ying-Tsen Chou, Kuo-Chou Hsu, Shao-Lun Hsu, Kai-Wei Yu, Yu-Shuen Tsai, Yi-Chu Liao, Pei-Chien Tsai,Yi-Chung Lee 2022/12 Clinical and genetic characterization of NIPA1 mutations in Taiwanese cohort with hereditary spastic paraplegia,Annals of Clinical and Translational Neurology. vol.accepted. (SCI)
Y-H Liu, Y-T Chou, F-P Chang, W-J Lee, Y-C Guo, C-T Chou, H-C Huang, T Mizuguchi, C-C Chou, H-Y Yu, K-W Yu, H-M Wu, P-C Tsai, N Matsumoto, Y-C Lee, Y-C Liao 2022/04 Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy,Brain. vol.accepted. (SCI)
En-Ting Lin, Yi-Chieh Lee, Hui-Min David Wang, Chen-Yaw Chiu, Yu-Kaung 2022/03 Efficient fucoidan extraction and purification from Sargassum cristaefolium and preclinical dermal biological activity assessments of the purified fucoidans.,Journal of the Taiwan Institute of Chemical Engineers. vol.accepted. (SCI)
Tsai, Pei-chien; Fuh, Jong-Ling; Yang, Chih-Chao ; Chang, Anna; Lien, Li-Ming; Wang, Pei-Ning; Lai, Kuan-Lin; Tsai, Yu-Shuen ; Lee, Yi-chung; Liao, Yi-chu 2021/09 Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations,Annals of Clinical and Translational Neurology. vol.accepted. (SCI)
Pei-Chien Tsai, Kangyang Jih, Ting-Yi Shen, Yi-Hong Liu, Kon-Ping KP Lin, Yi-Chu Liao, and Yi-Chung Lee 2021/08 Genetic and functional analysis of GLT8D1 in Taiwanese patients with amyotrophic lateral sclerosis,Neurology: Genetics. vol.Accepted. (SCI)
Kang-Yang Jih, Ying-Tsen Chou, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee 2021/07 Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis,Neurobiology of Aging. vol.Accepted. (SCI)
Kang-Yang Jih, Pei-Chien Tsai, Yu-Shuen Tsai, Yi-Chu Liao, and Yi-Chung Le 2020/07 Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation,Neurology: Genetics. vol.accepted. (SCI)
Yu-Shuen Tsai, Kon-Ping Lin, Kang-Yang Jih, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee 2020/05 Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant,Annals of Clinical and Translational Neurology. vol.7, no.6, pp.965-971. (SCI)
Kang-Yang Jih, Kon-Ping Lin, Pei-Chien Tsai, Bing-Wen Soong, Yi-Chu Liao,Yi-Chung Lee 2020 Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS,Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. vol.accepted. (SCI)
Kuan-Lin Lai,Yi-Chu Liao, Pei-Chien Tsai, Cheng-Tsung Hsiao,Bing-Wen Soong, Yi-Chung Lee 2019/09 Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia ,Parkinsonism & Related Disorders. vol.66, pp.220-223. (SCI)
Pei-Chien Tsai, Yi-Chu Liao, Po-Lin Chen, Yuh-Cherng Guo, Ying-Hao Chen, Kang-Yang Jih, Kon-Ping Lin, Bing-Wen Soong, Ching-Paio Tsai, Yi-Chung Lee 2018/02 Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.,Neurobiology of Aging. vol.62, no.243, pp.e1-243.e6. (SCI)
Pei-Chien Tsai, Yi-Chu Liao, Kang-Yang Jih, Bing-Wen Soong, Kon-Ping Lin, Yi-Chung Lee 2018 Genetic analysis of ANXA11 variants in a Han Chinese cohort with amyotrophic lateral sclerosis in Taiwan. ,Neurobiology of Aging, . vol.72, no.188, pp.e1-188.e2. . (SCI)
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee 2017/11 Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy,Scientific Reports. vol.10, no.7(1), pp.15363. (SCI)
Pei-Chien Tsai, Yu-Shuen Tsai, Bing-Wen Soong, Yen-Hua Huang, Hung-Ta Wu, Ying-Hao Chen, Kon-Ping Lin, Yi-Chu Liao, Yi-Chung Lee 2017/08 A novel DNAJB6 mutation causes dominantly-inherited distal-onset myopathy and compromises DNAJB6 function. ,Clinical Genetics. vol.92, no.2, pp.150-157. (SCI)
Tsai, Pei-Chien; Soong, Bing-wen; Mademan, Ines; Huang, Yen-Hua; Liu, Chia-Rung; Hsiao, Cheng-Tsung; Wu, Hung-Ta; Liu, Tze-Tze; Liu, Yo-Tsen; Tseng, Yen-Ting; Lin, Kon-ping; Yang, Ueng-Cheng; Chung, K 2017/05 A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. ,Brain. vol.140, no.5, pp.1252-1266. . (SCI)
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong 2017/05 Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.,PLOS ONE. vol.12, no.5, pp.e0177296. (SCI)
P.C. Tsai, D.M.Yang, Y.C. Liao, T.Y. Chiu, H.C. Kuo, Yu-Ping Su, Y. C. Guo, B.W. Soong, K.P. Lin, Y.T. Liu, Y.C. Lee 2016/11 Clinical and Biophysical Characterization of Nineteen GJB1 Mutations.,Annals of Clinical and Translational Neurology. vol.3, no.11, pp.854-865. (SCI)
Tsai Pei-Chien, Yi-Chien Liu, Kon-Ping Lin, Yo-Tsen Liu, Yi-Chu Liao, Cheng-Tsung Hsiao, Bing-Wen Soong, Ping-Keung Yip, Yi-Chung Lee 2016/04 Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis,Neurobiology of Aging. vol.40, no.191, pp.e11-6. (SCI)
Yi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong 2016/04 Spinocerebellar ataxia type 36 in the Han Chinese. ,Neurology: Genetics. vol.12, no.2(3), pp.e68.
C-T Hsiao, P-C Tsai, C-C Lin, Y-T Liu, Y-H Huang, Y-C Liao, H-W Huang, K-P Lin, B-W Soong, Y-C Lee 2016/01 Clinical and molecular characterization of BSCL2 mutations in a Taiwanese cohort with hereditary neuropathy.,PLOS ONE. vol.11, no.1, pp.e0147677. . (SCI)
Y-C Liao, Y-T Liu, P-C Tsai, C-C Chang, Y-H Huang,B-W Soong, Y-C Lee 2015/08 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. ,PLOS ONE. vol.10, no.8, pp.e0133423. (SCI)
Kon-Ping Lin, Pei-Chien Tsai, Yi-Chu Liao, Wei-Ting Chen, Ching-Piao Tsai, Bing-Wen Soong, Yi-Chung Lee 2015/05 Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.,Neurobiology of Aging. vol.36, no.5, pp.2005.e1–2005.e4. (SCI)
Cheng-Tsung Hsiao, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee, Bing-Wen 2014/12 C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome,Journal of the Neurological Sciences. vol.347, no.1-2, pp.322-324. (SCI)
Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, Lu YC, Wang SJ, Tsai CP, Lee YC 2014/10 Extensive molecular genetic survey of Taiwanese,Neurobiology of Aging. vol.35, no.10, pp.2423.e1-6. (SCI)
Yuh-Cherng Guo, Juei-Jueng Lin, Yi-Chu Liao, Pei-Chien Tsai, Yi-Chung Lee, Bing-wen Soong 2014/10 Spinocerebellar ataxia 35: novel mutations in,Neurology. vol.83, no.17, pp.1554-61. (SCI)
Pei-Chien Tsai, Yen-Hua Huang, Yuh-Cherng Guo, Hung-Ta Wu, Kon-Ping Lin, Yu-Shuen Tsai, Yi-Chu Liao, Yo-Tsen Liu, Tze-Tze Liu, Lung-Sen Kao, Shaw-Fang Yet, Ming-Ji Fann, Bing-Wen Soong, Yi-Chung Lee 2014/09 A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. ,Neurology. vol.83, no.10, pp.903-12.. (SCI)
Yi-Jr Chena*, Pei-Chien Tsai*(co-first), Chun-Hua Hsua, Chia-Yin Lee 2014/03 Critical residues of class II PHA synthase for expanding the substrate specificity and enhancing the biosynthesis of polyhydroxyalkanoate,Enzyme and Microbial Technology. vol.5, no.56, pp.60-6. (SCI)
Tsai PC, Chen CH, Liu AB, Chen YC, Soong BW, Lin KP, Yet SF, Lee YC 2013/09 Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy,Journal of the Neurological Sciences. vol.332, no.1-2, pp.51-5. (SCI)
Soong BW, Liao YC, Tu PH, Tsai PC, Lee IH, Chung CP, Lee YC 2013/06 A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.,Journal of the Chinese Medical Association. vol.76, no.6, pp.319-24. (SCI)
Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT,Chang MH, Lin KP, Tu PH, Kao LS, Lee YC 2013/03 Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.,American Journal of Human Genetics. vol.7, no.92(3), pp.422-30. (SCI)
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT,Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stev 2012/12 Mutations in KCND3 cause spinocerebellar ataxia type 22,Annals of Neurology. vol.72, no.6, pp.859-69. . (SCI)
Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC 2012/09 A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. ,Neurobiology of Aging. vol.33, no.9, pp.:2232.e11-2232.e18. . (SCI)
Tsai, P. C. and Breen, M 2012/09 aCGH-guided identification of suitable reference genes for real-time quantitative PCR analysis in canine tumors.,American Journal of Veterinary Research. vol.73, no.9, pp. 1335-1343. . (SCI)
Thomas, R, Wang, H.J., Tsai, P.C., Langford, C.F., Fosmire,S.P., Jubala, C.M., Getzy, D.M., Cutter, G.R., Modiano, J.F., Breen, M. 2009/04 Influence of genetic background on tumor karyotypes: evidence for breed-associated cytogenetic aberrations in canine appendicular osteosarcoma.,Chromosome Research . vol.17, pp.365-377. (SCI)
Tzu-yin Lin, Rachael Thomas, Pei-Chien Tsai, Matthew Breen, Cheryl A London 2009/01 Generation and characterization of a novel canine malignant mast cell line, CL1. ,Veterinary Immunology and Immunopathology. vol.127, pp.114-124. . (SCI)
Thomas, R., Duke, S. Bloom, S., Breen, T, Feiste, E., Young, A., Seiser, E., Tsai, P., Ellis, P., Langford, C, Karlsson, E., Mauceli, E., Lindblad-Toh, K., Breen. M. 2007/08 A cytogenetically characterized, genome anchored 10Mb BAC array for the domestic dog.,Journal of Heredity . vol.98, no.5, pp.474-484.. (SCI)

研究計劃

年度
補助機關
計畫名稱
計畫起迄日期
2024
國家科學及技術委員會
肌萎縮性脊髓側索硬化症相關SOD1基因突變致病性的評估與檢測方法之研發
2024/8/1-2025/7/31
2023
國家科學及技術委員會
可造成遺傳性神經系統病變之TFG變異基因功能性研究
2023/8/1-2024/7/31
2022
國家科學及技術委員會
遠端型遺傳性運動神經病變患者tryptophanyl-tRNA synthetase基因突變之基因功能性研究
2020/08/01-2023/07/31
2021
國家科學及技術委員會
遠端型遺傳性運動神經病變患者tryptophanyl-tRNA synthetase基因突變之基因功能性研究
2020/08/01-2023/07/31
2020
科技部
遠端型遺傳性運動神經病變患者tryptophanyl-tRNA synthetase基因突變之基因功能性研究
2020/08/01-2023/07/31