Zobrazeno 1 - 10
of 166
pro vyhledávání: '"M. Garcia Barceló"'
Autor:
Stacey S. Cherny, Lin Jiang, Pak C. Sham, Miaoxin Li, Sheng Dai, Paul K.H. Tam, You-Qiang Song, Binbin Wang, Ying Chen, M. M. Garcia-Barceló, Clara S. Tang, Hui Jiang
The identification of rare variants that contribute to complex diseases is challenging due to low statistical power. Here we propose a novel and powerful rare variants association test based on the deviation of the observed mutational burden in a gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba47582ff7fa428b6fb881b3559e878f
https://doi.org/10.1101/2020.07.04.186619
https://doi.org/10.1101/2020.07.04.186619
Autor:
Ppw Lee, A Leung, Chun-Ming Wong, Yan Zhang, Chak Sing Lau, KW Lee, Rsm Wong, Nattiya Hirankarn, Stacey S. Cherny, Hai-Feng Pan, Jing Zhang, Yu-Lung Lau, Chi Chiu Mok, Jing Yang, Dong-Qing Ye, Whs Wong, Nan Shen, Ruo-Jie Li, M. M. Garcia-Barceló, Mo Yin Mok, Tsz-Leung Lee, Wanling Yang, Lu Zhang, Mhk Ho, Tak Mao Chan, Pornpimol Rianthavorn, Sik Nin Wong, W. Li, Vorasuk Shotelersuk, Iol Ng, Yingyos Avihingsanon, Xiang-Pei Li, PC Sham, Patrick Kwan, Kanya Suphapeetiporn, Larry Baum, Philip H. Li, Pkh Tam, Thavatchai Deekajorndej
Publikováno v:
Lupus. 21:75-83
Objective: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. CD247 (CD3Z, TCRZ) plays a vital role in antigen recognition and signal transduction in antigen-specific immune responses, and is known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b182cae539c8dfc9fe93fa6d3a5c97d9
https://doi.org/10.1177/0961203311422724
https://doi.org/10.1177/0961203311422724
Autor:
Tsz Leung Lee, Sik Nin Wong, Jing Yang, Yan Zhang, Rws Wong, Wilfred Hing Sang Wong, Paul K.H. Tam, Mhk Ho, Pak C. Sham, Chak Sing Lau, Pamela Pui Wah Lee, A. M H Leung, Irene Oi-Lin Ng, Stacey S. Cherny, Chun-Ming Wong, Chi Chiu Mok, Tak Mao Chan, KW Lee, Yu-Lung Lau, Jing Zhang, M. M. Garcia-Barceló, Wanling Yang, Mo Yin Mok
Publikováno v:
Genes & Immunity. 12:231-234
UHRF1BP1 encodes a highly conserved protein with unknown function. Previously, a coding variant in this gene was found to be associated with systemic lupus erythematosus (SLE) in populations of European ancestry (rs11755393, R454Q, P=2.22 x 10⁻⁸,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fd40aa8b7c95798986a5b3615c7bee0
https://doi.org/10.1038/gene.2010.66
https://doi.org/10.1038/gene.2010.66
Autor:
S. H. To, Richard S. Houlston, Tomy C. K. Hui, S. C. Choi, Stacey S. Cherny, R. Liu, PY Lau, PC Sham, Luis G. Carvajal-Carmona, K K Cheng, Y. W. Wong, C. H. Yuen, S. M. Hui, Charles C. Chung, Y. F. Lee, Ian Tomlinson, Christopher Yau, Joanna W. Ho, S. S. Fung, T. K. Yau, S. Ho, M. M. Garcia-Barceló
Publikováno v:
British Journal of Cancer
British journal of cancer, vol 104, iss 2
British journal of cancer, vol 104, iss 2
Background: Recent genome-wide association studies of colorectal cancer (CRC) have identified common single-nucleotide polymorphisms (SNPs) mapping to 10 independent loci that confer modest increased risk. These studies have been conducted in Europea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc010db0c2cbe6e3405434eaebe9455d
https://doi.org/10.1038/sj.bjc.6605977
https://doi.org/10.1038/sj.bjc.6605977
Autor:
G. D. H. Croaker, Ting-ting Liu, Thomas Y.Y. Leon, Danny Ko-chun Lau, Kenneth K. Y. Wong, Vch Lui, Paul K.H. Tam, M. M. Garcia-Barceló, Raymond W. Ganster, Xiaoping Miao, Daniel T. Cass, Man-Ting So, Elly Sau-Wai Ngan
Publikováno v:
Annals of Human Genetics. 72:170-177
Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in RET and other interacting loci. Decreased levels of RET expression may lead to the manifestation of HSCR. We previously showed that RET tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14fe44a0ccef087f673102ff573135bb
https://doi.org/10.1111/j.1469-1809.2007.00403.x
https://doi.org/10.1111/j.1469-1809.2007.00403.x
Akademický článek
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Autor:
Paul K.H. Tam, Elly Sau-Wai Ngan, CC Hui, Frank Pui-Ling Lai, Mai Har Sham, Hongsheng Gui, Jessica Aijia Liu, M. M. Garcia-Barceló
Publikováno v:
Gastroenterology. 149(7)
Background & Aims Hirschsprung disease is characterized by a deficit in enteric neurons, which are derived from neural crest cells (NCCs). Aberrant hedgehog signaling disrupts NCC differentiation and might cause Hirschsprung disease. We performed gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06596cbca48169c5ecc21f4a41a4198e
https://pubmed.ncbi.nlm.nih.gov/26526715
https://pubmed.ncbi.nlm.nih.gov/26526715
Autor:
Reeson Xu Wang, Frank Pui-Ling Lai, Hongsheng Gui, Elly Sau-Wai Ngan, Sin-Ting Lau, John Wong, Tingwen Zhou, M. M. Garcia-Barceló, Paul K.H. Tam, Hung-Fat Tse, Wing Hon Lai
Publikováno v:
Gastroenterology. 153:139-153.e8
Background & Aims Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca76be8ff827a272212694011de848ba
https://doi.org/10.1053/j.gastro.2017.03.014
https://doi.org/10.1053/j.gastro.2017.03.014
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
M. Garcia-Barceló, Esther Julián, Manuel Muñoz, Marie-Antoinette Lanéelle, Marina Luquin, Vicente Ausina
Publikováno v:
Research in Microbiology. 148:405-412
The distribution of surface-exposed antigenic glycolipids in seven recent clinical isolates of Mycobacterium tuberculosis was established. Thin-layer and liquid chromatographies revealed a uniformity in the glycolipid pattern. Chemical analysis of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e55786fa0c89781f8252d0c7c713a1
https://doi.org/10.1016/s0923-2508(97)83871-5
https://doi.org/10.1016/s0923-2508(97)83871-5