Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Hsiao-Jung Kao"'
Autor:
Hsiao-Jung Kao, Ting-Yi Lin, Feng-Jen Hsieh, Jia-Ying Chien, Erh-Chan Yeh, Wan-Jia Lin, Yi-Hua Chen, Kai-Hsuan Ding, Yu Yang, Sheng-Chu Chi, Ping-Hsing Tsai, Chih-Chien Hsu, De-Kuang Hwang, Hsien-Yang Tsai, Mei-Ling Peng, Shi-Huang Lee, Siu-Fung Chau, Chen Yu Chen, Wai-Man Cheang, Shih-Jen Chen, Pui-Yan Kwok, Shih-Hwa Chiou, Mei-Yeh Jade Lu, Shun-Ping Huang
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospective cohort study, we validated the assay’s effectiveness and clinical utility and characterized the mutation spectrum o
Externí odkaz:
https://doaj.org/article/483be3c5b3ae4fb894f541f92bf270b0
Autor:
Hsiu-Hui Tsai, Hsiao-Jung Kao, Ming-Wei Kuo, Chin-Hsien Lin, Chun-Min Chang, Yi-Yin Chen, Hsiao-Huei Chen, Pui-Yan Kwok, Alice L. Yu, John Yu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-9 (2023)
Abstract CRISPR-Cas9 genome editing has promising therapeutic potential for genetic diseases and cancers, but safety could be a concern. Here we use whole genomic analysis by 10x linked-read sequencing and optical genome mapping to interrogate the ge
Externí odkaz:
https://doaj.org/article/4834e286501546e1ae6804e717d5ef28
Autor:
Yun-Wen Lin, Hsiao-Jung Kao, Wei-Ting Chen, Cheng-Fu Kao, Jer-Yuarn Wu, Yuan-Tsong Chen, Yi-Ching Lee
Publikováno v:
JCI Insight, Vol 8, Iss 22 (2023)
Overactive fibroblast growth factor receptor 3 (FGFR3) signaling drives pathogenesis in a variety of cancers and a spectrum of short-limbed bone dysplasias, including the most common form of human dwarfism, achondroplasia (ACH). Targeting FGFR3 activ
Externí odkaz:
https://doaj.org/article/726be9a941254a5595ff0d4f50e4c86d
Autor:
Chun-Yu Wei, Jenn-Hwai Yang, Erh-Chan Yeh, Ming-Fang Tsai, Hsiao-Jung Kao, Chen-Zen Lo, Lung-Pao Chang, Wan-Jia Lin, Feng-Jen Hsieh, Saurabh Belsare, Anand Bhaskar, Ming-Wei Su, Te-Chang Lee, Yi-Ling Lin, Fu-Tong Liu, Chen-Yang Shen, Ling-Hui Li, Chien-Hsiun Chen, Jeffrey D. Wall, Jer-Yuarn Wu, Pui-Yan Kwok
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated
Externí odkaz:
https://doaj.org/article/3593b2764afa4ac58f96065a27161ace
Autor:
Karen H. Y. Wong, Walfred Ma, Chun-Yu Wei, Erh-Chan Yeh, Wan-Jia Lin, Elin H. F. Wang, Jen-Ping Su, Feng-Jen Hsieh, Hsiao-Jung Kao, Hsiao-Huei Chen, Stephen K. Chow, Eleanor Young, Catherine Chu, Annie Poon, Chi-Fan Yang, Dar-Shong Lin, Yu-Feng Hu, Jer-Yuarn Wu, Ni-Chung Lee, Wuh-Liang Hwu, Dario Boffelli, David Martin, Ming Xiao, Pui-Yan Kwok
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
The human reference genome does not fully reflect human genetic diversity. Here, the authors analyse 338 human genome assemblies from diverse populations to identify missing sequences, define non-reference unique insertions and construct a Human Dive
Externí odkaz:
https://doaj.org/article/c8c00ea643e14a5fb06226803d1d0cb0
Autor:
Amir N Saleem, Yen-Hui Chen, Hwa Jin Baek, Ya-Wen Hsiao, Hong-Wen Huang, Hsiao-Jung Kao, Kai-Ming Liu, Li-Fen Shen, I-Wen Song, Chen-Pei D Tu, Jer-Yuarn Wu, Tateki Kikuchi, Monica J Justice, Jeffrey J Y Yen, Yuan-Tsong Chen
Publikováno v:
PLoS Genetics, Vol 6, Iss 6, p e1000985 (2010)
Protein palmitoylation has emerged as an important mechanism for regulating protein trafficking, stability, and protein-protein interactions; however, its relevance to disease processes is not clear. Using a genome-wide, phenotype driven N-ethyl-N-ni
Externí odkaz:
https://doaj.org/article/4c64134e49014abaaa498ae40f536a15
Autor:
Hsueh Wen Hsueh, Hsiao-Jung Kao, Chi-Chao Chao, Sung-Ju Hsueh, Yu-Ning Huang, Wan-Jia Lin, Jen-Ping Su, Horng-Tzer Shy, Ti-Yen Yeh, Cheng-Chen Lin, Pui-Yan Kwok, Ni-Chung Lee, Sung-Tsang Hsieh
Publikováno v:
Neurology: Genetics; Aug2023, Vol. 9 Issue 4, p1-12, 12p
Autor:
Jenn-Hwai Yang, Saurabh Belsare, Yi-Ling Lin, Feng-Jen Hsieh, Ling-Hui Li, Jer-Yuarn Wu, Chen-Zen Lo, Wan-Jia Lin, Jeffrey D. Wall, C. M. Wei, Fu-Tong Liu, Hsiao-Jung Kao, Chien-Hsiun Chen, Te-Chang Lee, Anand Bhaskar, Pui-Yan Kwok, Lung-Pao Chang, Ming-Wei Su, Erh-Chan Yeh, Chen-Yang Shen, Ming-Fang Tsai
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ genomic medicine, vol 6, iss 1
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ genomic medicine, vol 6, iss 1
Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-cov
Autor:
Hsiao Jung Kao, Pui-Yan Kwok, Yi Fang Tu, Ni-Chung Lee, Yen Yin Chou, Chien Ling Lin, Pi-Chuan Fan, Wuh-Liang Hwu, Hung-Lun Chiang, Hsiao-Huei Chen
Full genome analysis of a young girl with deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment revealed a heterozygous, de novo variant in the BCAP31 gene on chromosome Xq28 (NM_001256447.2:c.92G>
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8903c4732879d26d942377bfc7b3437a
https://doi.org/10.22541/au.158878838.84449932
https://doi.org/10.22541/au.158878838.84449932
Autor:
Walfred Ma, Jen-Ping Su, Wan-Jia Lin, Wuh-Liang Hwu, Jer-Yuarn Wu, Ming Xiao, Yu-Feng Hu, Annie Poon, Catherine J. Chu, Hsiao-Jung Kao, Chi-Fan Yang, Pui-Yan Kwok, Dario Boffelli, Dar-Shong Lin, Hsiao-Huei Chen, Ni-Chung Lee, Eleanor Young, David I. K. Martin, C. M. Wei, Stephen K. Chow, Elin H. F. Wang, Erh-Chan Yeh, Karen H. Y. Wong, Feng-Jen Hsieh
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature communications, vol 11, iss 1
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature communications, vol 11, iss 1
The current human reference genome is predominantly derived from a single individual and it does not adequately reflect human genetic diversity. Here, we analyze 338 high-quality human assemblies of genetically divergent human populations to identify