Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Yah-Huei Wu Chou"'
Autor:
Qianqian Chen, Hong Wang, Holger Schwender, Tianxiao Zhang, Jacqueline B Hetmanski, Yah-Huei Wu Chou, Xiaoqian Ye, Vincent Yeow, Samuel S Chong, Bo Zhang, Ethylin Wang Jabs, Margaret M Parker, Alan F Scott, Terri H Beaty
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e109038 (2014)
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common disorder with complex etiology. The Bone Morphogenetic Protein 4 gene (BMP4) has been considered a prime candidate gene with evidence accumulated from animal experimental studi
Externí odkaz:
https://doaj.org/article/b15983e156d84fbfbb240d7b0046ca3b
Autor:
Qianqian Chen, Hong Wang, Jacqueline B Hetmanski, Tianxiao Zhang, Ingo Ruczinski, Holger Schwender, Kung Yee Liang, M Daniele Fallin, Richard J Redett, Gerald V Raymond, Yah-Huei Wu Chou, Philip Kuo-Ting Chen, Vincent Yeow, Samuel S Chong, Felicia S H Cheah, Ethylin Wang Jabs, Alan F Scott, Terri H Beaty
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35347 (2012)
The Bone Morphogenetic Protein 4 gene (BMP4) is located in chromosome 14q22-q23 which has shown evidence of linkage for isolated nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a genome wide linkage analysis of human multiplex familie
Externí odkaz:
https://doaj.org/article/8afa1708bd2c4ecfbf85f443208ad079
Autor:
Yah-Huei Wu-Chou, Tzu-Chao Hung, Yin-Ting Lin, Hsing-Wen Cheng, Ju-Li Lin, Chih-Hung Lin, Chung-Chih Yu, Kuo-Ting Chen, Tu-Hsueh Yeh, Yu-Ray Chen
Publikováno v:
Journal of Biomedical Science, Vol 25, Iss 1, Pp 1-10 (2018)
Abstract Background Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of the cellular Ras/M
Externí odkaz:
https://doaj.org/article/59883e3a47e649c9b7a2d544f41933ec
Autor:
Lena Sagi-Dain, Martje G. Pauly, Chiung C. Chen, Niccolo E. Mencacci, Shey Lin Wu, Inge A. Meijer, Aida M. Bertoli-Avella, Krishna Kumar Kandaswamy, Steven J. Lubbe, Celeste Panteghini, Wim Mandemakers, Christine Klein, Nicolas Marotta, Katja Lohmann, Peter Bauer, Andrea A. Kühn, Baiba Lace, Vincenzo Bonifati, Tu Hsueh Yeh, Chin Song Lu, Miryam Carecchio, Antonio E. Elia, Christina Fevga, Yah Huei Wu-Chou, Yi Hsin Weng, Vera Tadic, Bradley Osterman, Marialuisa Quadri, Barbara Garavaglia, Simone Olgiati, Guido J. Breedveld, Jens Volkmann, Hsiu Chen Chang, Demy J.S. Kuipers
Publikováno v:
Annals of Neurology
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.
Objective: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods: Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonan
Autor:
Yi-Chieh Lu, Kuo-Ting Philip Chen, Hsien-Fang Chang, Yah-Huei Wu-Chou, Yin-Ting Lin, Lun-Jou Lo
Publikováno v:
The Cleft Palate-Craniofacial Journal. 57:671-677
Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed a
Autor:
Kuo-Ting Philip Chen, Yin-Ting Lin, Yah-Huei Wu-Chou, Hsien-Fang Chang, Yi-Chieh Lu, Lun-Jou Lo
Publikováno v:
The Cleft Palate-Craniofacial Journal. 56:778-785
Objective:To evaluate genetic variants within the regulatory regions of interferon regulatory factor 6 (IRF6) and TP63 for the etiology of nonsyndromic oral clefts risk factors.Design:We performed ...
Autor:
Yu-Ray Chen, Yin-Ting Lin, Chih-Hung Lin, Tzu-Chao Hung, Kuo-Ting Chen, Shih-Chiang Huang, Yah-Huei Wu-Chou, Chung-Chih Yu
Background: Neurofibromatosis type 1 (NF1) is a common inherited tumor predisposition syndrome. Many genetic and biochemical evidences considered NF1 gene as a tumor suppressor gene that inactivation of both NF1 alleles would lead to tumorigenesis. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fb74623e1c4194bebf1c91630e7e366
https://doi.org/10.21203/rs.3.rs-144193/v1
https://doi.org/10.21203/rs.3.rs-144193/v1
Publikováno v:
Pathology, research and practice. 223
Oral squamous cell carcinoma (OSCC) is the most common malignancy of the oral cavity with poor prognosis. The dysregulation of Notch signaling pathway has been implicated in the OSCC tumorigenesis. However, the clinical implication of NOTCH1 mutation
Autor:
David J. Cutler, Yah Huei Wu-Chou, Eleanor Feingold, Nandita Mukhopadhyay, Elizabeth J. Leslie, George L. Wehby, Ingo Ruczinski, Jeffrey C. Murray, Samantha Ho, Philip Kuo-Ting Chen, Kimberly K. Diaz Perez, Claudia P. Restrepo Muñeton, Robert J. Lipinski, Madison R. Bishop, Frederic W.-B. Deleyiannis, Luz Consuelo Valencia-Ramirez, Pankaj Chopra, Mary L. Marazita, Harrison Brand, Terri H. Beaty, Seth M. Weinberg, Lina Moreno-Uribe, Jacqueline B. Hetmanski, Miranda Sun, Margaret A. Taub, Michael P. Epstein, Jacqueline T. Hecht
While de novo mutations (DNMs) are known to increase risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 case-parent tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbcb19cbc0d12edc382ee7e050d8b7e
Autor:
David J. Cutler, Madison R. Bishop, Robert J. Lipinski, Jacqueline T. Hecht, Lina Moreno-Uribe, Margaret A. Taub, Elizabeth J. Leslie, Yah Huei Wu-Chou, Michael P. Epstein, Ingo Ruczinski, Jacqueline B. Hetmanski, Samantha Ho, Jeffrey C. Murray, Claudia P. Restrepo Muñeton, Nandita Mukhopadhyay, Luz Consuelo Valencia-Ramirez, Pankaj Chopra, Philip Kuo-Ting Chen, Kimberly K. Diaz Perez, Harrison Brand, Terri H. Beaty, Seth M. Weinberg, George L. Wehby, Eleanor Feingold, Mary L. Marazita, Frederic W.-B. Deleyiannis, Miranda Sun
Publikováno v:
Am J Hum Genet
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of