Yuan-Tsong Chen
Professor Emeritus of Pediatrics
Our overall research interests are in translational research. We aim at translating the promise of genomic medicine into clinical reality.
Specific projects at present time include:
1). Identification of novel genes/targets associated with human diseases. This includes susceptibility genes for common multi-factorial diseases and adverse drug reactions. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics and proteomics are some approaches that we use in identification of novel genes associated with the human disease. Genetic markers associated with drug-induced Stevens-Johnson syndrome and other adverse drug reactions have been identified. Prospective studies are in progress to assess the utilization of these markers to prevent the adverse drug reactions. A systematic, genome-wide, phenotype-driven mutagenesis program for gene function studies in the mouse have resulted in the identification of several mouse models of human genetic metabolic diseases. We will continue our research along these lines to identify more novel disease genes/ targets and to increase our understanding of the diseases.
2). Genetics and molecular mechanisms of Stevens-Johnson syndrome. With the identification of HLA-B allele strongly linked to the genetic susceptibility to the drug-induced Stevens-Johnson syndrome, we are investigating how the specific HLA allele mediated the cell toxicity in causing disseminated keratinocyte death.
3). Functional characterization of a novel glucose transporter and its role in diabetes mellitus. We cloned a novel glucose transporter (Glu 10), which is highly expressed in pancreas and liver and is located on a region of a chromosome where a diabetes mellitus type II locus has been mapped. We are currently investigating its role in diabetes by studying mouse models carrying the GLU10 mutations and by direct genetic association study of human patients affected with diabetes.
4). Enzyme and gene therapy and targeting mechanisms of Pompe disease.
Pompe disease is a fatal genetic muscle disorder. As enzyme replacement therapy for Pompe disease moves into clinical reality the fundamental question of how the enzyme targets the heart and skeletal muscle and why some patients respond better than others remain unanswered. We have generated tissue-specific MPR300 knockout mouse model and other animal models to help answer these questions.
Specific projects at present time include:
1). Identification of novel genes/targets associated with human diseases. This includes susceptibility genes for common multi-factorial diseases and adverse drug reactions. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics and proteomics are some approaches that we use in identification of novel genes associated with the human disease. Genetic markers associated with drug-induced Stevens-Johnson syndrome and other adverse drug reactions have been identified. Prospective studies are in progress to assess the utilization of these markers to prevent the adverse drug reactions. A systematic, genome-wide, phenotype-driven mutagenesis program for gene function studies in the mouse have resulted in the identification of several mouse models of human genetic metabolic diseases. We will continue our research along these lines to identify more novel disease genes/ targets and to increase our understanding of the diseases.
2). Genetics and molecular mechanisms of Stevens-Johnson syndrome. With the identification of HLA-B allele strongly linked to the genetic susceptibility to the drug-induced Stevens-Johnson syndrome, we are investigating how the specific HLA allele mediated the cell toxicity in causing disseminated keratinocyte death.
3). Functional characterization of a novel glucose transporter and its role in diabetes mellitus. We cloned a novel glucose transporter (Glu 10), which is highly expressed in pancreas and liver and is located on a region of a chromosome where a diabetes mellitus type II locus has been mapped. We are currently investigating its role in diabetes by studying mouse models carrying the GLU10 mutations and by direct genetic association study of human patients affected with diabetes.
4). Enzyme and gene therapy and targeting mechanisms of Pompe disease.
Pompe disease is a fatal genetic muscle disorder. As enzyme replacement therapy for Pompe disease moves into clinical reality the fundamental question of how the enzyme targets the heart and skeletal muscle and why some patients respond better than others remain unanswered. We have generated tissue-specific MPR300 knockout mouse model and other animal models to help answer these questions.
Current Appointments & Affiliations
- Professor Emeritus of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2017
Contact Information
- Box 103856 Med Ctr, Durham, NC 27710
- Room 4009, 4th Floor, GSRB1, 595 Lasalle Street, Durham, NC 27710
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chen0010@mc.duke.edu
(919) 668-6156
- Background
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Education, Training, & Certifications
- Ph.D., Columbia University 1978
- M.D., National Taiwan University (Taiwan) 1973
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Duke Appointment History
- Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 1994 - 2017
- Professor in Molecular Genetics and Microbiology, Molecular Genetics and Microbiology, Basic Science Departments 2002 - 2011
- Chief, Division of Medical Genetics in the Department of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 1983 - 2005
- Professor of Genetics, School of Medicine, Duke University 1995 - 2002
- Associate Professor of Genetics, School of Medicine, Duke University 1994 - 1995
- Associate Professor of Pediatrics, Pediatrics, Clinical Science Departments 1990 - 1993
- Expertise
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Global Scholarship
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Research
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- Research
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Selected Grants
- Gene delivery to striated muscle by systemic AAV vectors awarded by National Institutes of Health 2006 - 2012
- Molecular Mechanism In Type Iii Glycogen Storage Disease awarded by National Institutes of Health 1998 - 2003
- Molecular Mechanism In Type Iii Glycogen Storage Disease awarded by National Institutes of Health 1996 - 1998
- Molecular Mechanism In Type Iii Glycogen Storage Disease awarded by National Institutes of Health 1987 - 1998
- Adrenergic Receptor Genes In Salt Sensitive Hypertension awarded by National Institutes of Health 1993 - 1995
- Cornstarch For Type I Glycogen Storage Disease-Nephropathy awarded by Food and Drug Administration 1990 - 1993
- Molecular Mechanisms In Type Iii Glycogen Storage Disease awarded by National Institutes of Health 1991 - 1992
- Cornstarch For Type I Glycogen Storage Disease-Nephropath awarded by Food and Drug Administration 1989 - 1991
- Publications & Artistic Works
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Selected Publications
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Academic Articles
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Chan, Rosa, Chun-Yu Wei, Yuan-Tsong Chen, and Leslie Z. Benet. “Use of the Biopharmaceutics Drug Disposition Classification System (BDDCS) to Help Predict the Occurrence of Idiosyncratic Cutaneous Adverse Drug Reactions Associated with Antiepileptic Drug Usage.” Aaps J 18, no. 3 (May 2016): 757–66. https://doi.org/10.1208/s12248-016-9898-x.Full Text Link to Item
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Song, I-Wen, Chih-Chien Sung, Chien-Hsiun Chen, Chih-Jen Cheng, Sung-Sen Yang, Yi-Chun Chou, Jenn-Hwai Yang, Yuan-Tsong Chen, Jer-Yuarn Wu, and Shih-Hua Lin. “Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis.” Neurology 86, no. 13 (March 29, 2016): 1190–98. https://doi.org/10.1212/WNL.0000000000002524.Full Text Link to Item
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Ko, Tai-Ming, Chih-Shung Wong, Jer-Yuarn Wu, and Yuan-Tsong Chen. “Pharmacogenomics for personalized pain medicine.” Acta Anaesthesiol Taiwan 54, no. 1 (March 2016): 24–30. https://doi.org/10.1016/j.aat.2016.02.001.Full Text Link to Item
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Pattaro, Cristian, Alexander Teumer, Mathias Gorski, Audrey Y. Chu, Man Li, Vladan Mijatovic, Maija Garnaas, et al. “Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.” Nat Commun 7 (January 21, 2016): 10023. https://doi.org/10.1038/ncomms10023.Full Text Link to Item
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Wen, Wanqing, Norihiro Kato, Joo-Yeon Hwang, Xingyi Guo, Yasuharu Tabara, Huaixing Li, Rajkumar Dorajoo, et al. “Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference.” Sci Rep 6 (January 20, 2016): 17958. https://doi.org/10.1038/srep17958.Full Text Link to Item
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Liu, Kai-Ming, Yi-Ju Chen, Li-Fen Shen, Amir N. S. Haddad, I-Wen Song, Li-Ying Chen, Yu-Ju Chen, Jer-Yuarn Wu, Jeffrey J. Y. Yen, and Yuan-Tsong Chen. “Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation.” J Invest Dermatol 135, no. 11 (November 2015): 2603–10. https://doi.org/10.1038/jid.2015.240.Full Text Link to Item
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Ko, Tai-Ming, Chang-Youh Tsai, Shih-Yang Chen, Kuo-Shu Chen, Kuang-Hui Yu, Chih-Sheng Chu, Chung-Ming Huang, et al. “Use of HLA-B*58:01 genotyping to prevent allopurinol induced severe cutaneous adverse reactions in Taiwan: national prospective cohort study.” Bmj 351 (September 23, 2015): h4848. https://doi.org/10.1136/bmj.h4848.Full Text Link to Item
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Chen, Pei-Lung, Shyang-Rong Shih, Pei-Wen Wang, Ying-Chao Lin, Chen-Chung Chu, Jung-Hsin Lin, Szu-Chi Chen, et al. “Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.” Nat Commun 6 (July 7, 2015): 7633. https://doi.org/10.1038/ncomms8633.Full Text Link to Item
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Sudhir, Putty-Reddy, Shiu-Ting Lin, Chien Chia-Wen, Shung-Haur Yang, Anna Fen-Yau Li, Rai-Hua Lai, Mei-Jung Wang, et al. “Loss of PTPRM associates with the pathogenic development of colorectal adenoma-carcinoma sequence.” Scientific Reports 5 (April 24, 2015): 9633. https://doi.org/10.1038/srep09633.Full Text
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Chou, C. -. H., M. T. M. Lee, I. -. W. Song, L. -. S. Lu, H. -. C. Shen, C. -. H. Lee, J. -. Y. Wu, Y. -. T. Chen, V. B. Kraus, and C. -. C. Wu. “Insights into osteoarthritis progression revealed by analyses of both knee tibiofemoral compartments.” Osteoarthritis Cartilage 23, no. 4 (April 2015): 571–80. https://doi.org/10.1016/j.joca.2014.12.020.Full Text Link to Item
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Lin, Chia-Hsien, Jung-Kuei Chen, Tai-Ming Ko, Chun-Yu Wei, Jer-Yuarn Wu, Wen-Hung Chung, Shih-Yang Chen, You-Di Liao, Shuen-Iu Hung, and Yuan-Tsong Chen. “Immunologic basis for allopurinol-induced severe cutaneous adverse reactions: HLA-B*58:01-restricted activation of drug-specific T cells and molecular interaction.” J Allergy Clin Immunol 135, no. 4 (April 2015): 1063-1065.e5. https://doi.org/10.1016/j.jaci.2014.09.041.Full Text Link to Item
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Ko, Tai-Ming, Ho-Chang Kuo, Jeng-Sheng Chang, Shih-Ping Chen, Yi-Min Liu, Hui-Wen Chen, Fuu-Jen Tsai, et al. “CXCL10/IP-10 is a biomarker and mediator for Kawasaki disease.” Circ Res 116, no. 5 (February 27, 2015): 876–83. https://doi.org/10.1161/CIRCRESAHA.116.305834.Full Text Link to Item
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Leu, Hsin-Bang, Chia-Min Chung, Shing-Jong Lin, Kuang-Mao Chiang, Hsin-Chou Yang, Hung-Yun Ho, Chih-Tai Ting, et al. “Association of circadian genes with diurnal blood pressure changes and non-dipper essential hypertension: a genetic association with young-onset hypertension.” Hypertension Research : Official Journal of the Japanese Society of Hypertension 38, no. 2 (February 2015): 155–62. https://doi.org/10.1038/hr.2014.152.Full Text
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Chiu, Li-Ya, Priya S. Kishnani, Tzu-Po Chuang, Cheng-Yang Tang, Cheng-Yuan Liu, Deeksha Bali, Dwight Koeberl, et al. “Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.” Journal of Gastroenterology 49, no. 8 (August 2014): 1274–84. https://doi.org/10.1007/s00535-013-0890-2.Full Text
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Chen, Peng, Fumihiko Takeuchi, Jong-Young Lee, Huaixing Li, Jer-Yuarn Wu, Jun Liang, Jirong Long, et al. “Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.” Diabetes 63, no. 7 (July 2014): 2551–62. https://doi.org/10.2337/db13-1815.Full Text Link to Item
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Liu, Kai-Ming, Jer-Yuarn Wu, and Yuan-Tsong Chen. “Mouse model of glycogen storage disease type III.” Mol Genet Metab 111, no. 4 (April 2014): 467–76. https://doi.org/10.1016/j.ymgme.2014.02.005.Full Text Link to Item
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DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Andrew P., Andrew P. Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, Andrew P. South Asian Type 2 Diabetes (SAT2D) Consortium, Andrew P. Mexican American Type 2 Diabetes (MAT2D) Consortium, Andrew P. Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium, Anubha Mahajan, Min Jin Go, et al. “Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.” Nat Genet 46, no. 3 (March 2014): 234–44. https://doi.org/10.1038/ng.2897.Full Text Link to Item
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Wang, Teng-Hsu, Cheng-Huei Hsiong, Hsin-Tien Ho, Tung-Yuan Shih, San-Jan Yen, Hui-Hung Wang, Jer-Yuarn Wu, et al. “Genetic polymorphisms of metabolic enzymes and the pharmacokinetics of indapamide in Taiwanese subjects.” The Aaps Journal 16, no. 2 (March 2014): 206–13. https://doi.org/10.1208/s12248-013-9535-x.Full Text
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Hsieh, Ai-Ru, Su-Wei Chang, Pei-Lung Chen, Chen-Chung Chu, Ching-Lin Hsiao, Wei-Shiung Yang, Chien-Ching Chang, et al. “Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population.” Bmc Genomics 15 (January 29, 2014): 81. https://doi.org/10.1186/1471-2164-15-81.Full Text Link to Item
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Lin, Dar-Shong, Tzu-Po Chuang, Ming-Fu Chiang, Che-Sheng Ho, Chung-Der Hsiao, Yu-Wen Huang, Tsu-Yen Wu, et al. “De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.” Gene 533, no. 1 (January 1, 2014): 78–85. https://doi.org/10.1016/j.gene.2013.10.001.Full Text Link to Item
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Liu, K. -. M., J. -. Y. Wu, and Y. -. T. Chen. “Mouse model of glycogen storage disease type III.” Molecular Genetics and Metabolism, 2014.
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Ohara, Minami, Harumi Takahashi, Ming Ta Michael Lee, Ming-Shien Wen, Tsong-Hai Lee, Hui-Ping Chuang, Chen-Hui Luo, et al. “Determinants of the over-anticoagulation response during warfarin initiation therapy in Asian patients based on population pharmacokinetic-pharmacodynamic analyses.” Plos One 9, no. 8 (2014): e105891. https://doi.org/10.1371/journal.pone.0105891.Full Text Link to Item
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Song, I-Wen, Wei-Ru Li, Li-Ying Chen, Li-Fen Shen, Kai-Ming Liu, Jeffrey J. Y. Yen, Yi-Ju Chen, et al. “Palmitoyl acyltransferase, Zdhhc13, facilitates bone mass acquisition by regulating postnatal epiphyseal development and endochondral ossification: a mouse model.” Plos One 9, no. 3 (2014): e92194. https://doi.org/10.1371/journal.pone.0092194.Full Text Open Access Copy Link to Item
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Cornejo-García, José Antonio, Lieh-Bang Liou, Natalia Blanca-López, Inmaculada Doña, Chien-Hsiun Chen, Yi-Chun Chou, Hui-Ping Chuang, et al. “Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.” Pharmacogenomics 14, no. 15 (November 2013): 1857–69. https://doi.org/10.2217/pgs.13.166.Full Text Link to Item
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Wang, Chuang-Wei, Wen-Hung Chung, Yi-Fang Cheng, Nien-Wen Ying, Konan Peck, Yuan-Tsong Chen, and Shuen-Iu Hung. “A new nucleic acid-based agent inhibits cytotoxic T lymphocyte-mediated immune disorders.” J Allergy Clin Immunol 132, no. 3 (September 2013): 713-722.e11. https://doi.org/10.1016/j.jaci.2013.04.036.Full Text Link to Item
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Kishnani, P. S., and Y. T. Chen. “Disorders of carbohydrate metabolism,” August 29, 2013, 1–36. https://doi.org/10.1016/B978-0-12-383834-6.00097-5.Full Text
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Chou, C. -. H., C. -. H. Lee, L. -. S. Lu, I. -. W. Song, H. -. P. Chuang, S. -. Y. Kuo, J. -. Y. Wu, et al. “Direct assessment of articular cartilage and underlying subchondral bone reveals a progressive gene expression change in human osteoarthritic knees.” Osteoarthritis Cartilage 21, no. 3 (March 2013): 450–61. https://doi.org/10.1016/j.joca.2012.11.016.Full Text Link to Item
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Sun, Baodong, Keri Fredrickson, Stephanie Austin, Adviye A. Tolun, Beth L. Thurberg, William E. Kraus, Deeksha Bali, Yuan-Tsong Chen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.” Mol Genet Metab 108, no. 2 (February 2013): 145–47. https://doi.org/10.1016/j.ymgme.2012.12.002.Full Text Open Access Copy Link to Item
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Chang, Chia-Jung, Ho-Chang Kuo, Jeng-Sheng Chang, Jong-Keuk Lee, Fuu-Jen Tsai, Chiea Chuen Khor, Li-Ching Chang, et al. “Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility.” Plos One 8, no. 8 (2013): e72037. https://doi.org/10.1371/journal.pone.0072037.Full Text Link to Item
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Chou, Ching-Heng, Chia-Chun Wu, I-Wen Song, Hui-Ping Chuang, Liang-Suei Lu, Jen-Huei Chang, San-Yuan Kuo, et al. “Genome-wide expression profiles of subchondral bone in osteoarthritis.” Arthritis Research & Therapy 15, no. 6 (January 2013): R190. https://doi.org/10.1186/ar4380.Full Text Open Access Copy
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Lin, D. -. S., T. -. P. Chuang, M. -. F. Chiang, C. -. S. Ho, C. -. D. Hsiao, Y. -. W. Huang, T. -. Y. Wu, et al. “De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.” Gene, 2013.
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Wang, T. -. H., C. -. H. Hsiong, H. -. T. Ho, T. -. Y. Shih, S. -. J. Yen, H. -. H. Wang, J. -. Y. Wu, et al. “Genetic Polymorphisms of Metabolic Enzymes and the Pharmacokinetics of Indapamide in Taiwanese Subjects.” Bmc Biology, 2013, 1–8.
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Ichimura, Yosuke, Harumi Takahashi, Michael T. M. Lee, Mari Shiomi, Kiyoshi Mihara, Takashi Morita, Yuan-Tsong Chen, and Hirotoshi Echizen. “Inter-individual differences in baseline coagulation activities and their implications for international normalized ratio control during warfarin initiation therapy.” Clinical Pharmacokinetics 51, no. 12 (December 2012): 799–808. https://doi.org/10.1007/s40262-012-0009-6.Full Text
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Wei, Chun-Yu, Ming-Ta Michael Lee, and Yuan-Tsong Chen. “Pharmacogenomics of adverse drug reactions: implementing personalized medicine.” Hum Mol Genet 21, no. R1 (October 15, 2012): R58–65. https://doi.org/10.1093/hmg/dds341.Full Text Link to Item
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Tsuboi, Kazuya, and Hiroshi Yamamoto. “Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).” Genetics in Medicine : Official Journal of the American College of Medical Genetics 14, no. 9 (September 2012): 779–86. https://doi.org/10.1038/gim.2012.81.Full Text
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Okada, Yukinori, Xueling Sim, Min Jin Go, Jer-Yuarn Wu, Dongfeng Gu, Fumihiko Takeuchi, Atsushi Takahashi, et al. “Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.” Nat Genet 44, no. 8 (July 15, 2012): 904–9. https://doi.org/10.1038/ng.2352.Full Text Link to Item
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Cheng, Yu-Chang, Fang-Chih Hsiao, Erh-Chan Yeh, Wan-Jia Lin, Cheng-Yang Louis Tang, Huan-Chin Tseng, Hsing-Tsung Wu, et al. “VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.” Nucleic Acids Res 40, no. Web Server issue (July 2012): W76–81. https://doi.org/10.1093/nar/gks397.Full Text Link to Item
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Ko, Tai-Ming, and Yuan-Tsong Chen. “T-cell receptor and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: understanding a hypersensitivity reaction.” Expert Rev Clin Immunol 8, no. 5 (July 2012): 467–77. https://doi.org/10.1586/eci.12.31.Full Text Link to Item
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Wei, Chun-Yu, Wen-Hung Chung, Hsiao-Wen Huang, Yuan-Tsong Chen, and Shuen-Iu Hung. “Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome.” J Allergy Clin Immunol 129, no. 6 (June 2012): 1562-9.e5. https://doi.org/10.1016/j.jaci.2011.12.990.Full Text Link to Item
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Jordan, Catherine T., Li Cao, Elisha D. O. Roberson, Katherine C. Pierson, Chi-Fan Yang, Cailin E. Joyce, Caitriona Ryan, et al. “PSORS2 is due to mutations in CARD14.” Am J Hum Genet 90, no. 5 (May 4, 2012): 784–95. https://doi.org/10.1016/j.ajhg.2012.03.012.Full Text Link to Item
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Banugaria, Suhrad G., Trusha T. Patel, Joanne Mackey, Stuti Das, Andrea Amalfitano, Amy S. Rosenberg, Joel Charrow, Y. -. T. Chen, and Priya S. Kishnani. “Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.” Mol Genet Metab 105, no. 4 (April 2012): 677–80. https://doi.org/10.1016/j.ymgme.2012.01.019.Full Text Link to Item
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Lee, Yi-Ching, Ho-Chang Kuo, Jeng-Sheng Chang, Luan-Yin Chang, Li-Min Huang, Ming-Ren Chen, Chi-Di Liang, et al. “Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.” Nat Genet 44, no. 5 (March 25, 2012): 522–25. https://doi.org/10.1038/ng.2227.Full Text Link to Item
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Chang, Yi-Cheng, Yen-Feng Chiu, Pi-Hua Liu, Kuang-Chung Shih, Ming-Wei Lin, Wayne H-H Sheu, Thomas Quertermous, et al. “Replication of genome-wide association signals of type 2 diabetes in Han Chinese in a prospective cohort.” Clinical Endocrinology 76, no. 3 (March 2012): 365–72. https://doi.org/10.1111/j.1365-2265.2011.04175.x.Full Text
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Li, Sing-Chung, Wuh-Liang Hwu, Ju-Li Lin, Deeksha S. Bali, Chen Yang, Shih-Ming Chu, Yin-Hsiu Chien, et al. “Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.” J Child Neurol 27, no. 2 (February 2012): 204–8. https://doi.org/10.1177/0883073811415107.Full Text Link to Item
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Liou, Ying-Jay, Hui-Hung Wang, Ming-Ta Michael Lee, Sheng-Chang Wang, Hung-Lun Chiang, Cheng-Chung Chen, Ching-Hua Lin, et al. “Genome-wide association study of treatment refractory schizophrenia in Han Chinese.” Plos One 7, no. 3 (2012): e33598. https://doi.org/10.1371/journal.pone.0033598.Full Text Link to Item
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Shen, C. Y., and Y. T. Chen. “Response 1 to pharmacogenetic screening to prevent carbamazepine-induced toxic epidermal necrolysis and Stevens-Johnson syndrome: A critical appraisal.” British Journal of Dermatology 166, no. 1 (January 1, 2012): 11–12. https://doi.org/10.1111/j.1365-2133.2011.10759.x.Full Text
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Wei, Chun-Yu, Tai-Ming Ko, Chen-Yang Shen, and Yuan-Tsong Chen. “A recent update of pharmacogenomics in drug-induced severe skin reactions.” Drug Metabolism and Pharmacokinetics 27, no. 1 (January 2012): 132–41. https://doi.org/10.2133/dmpk.dmpk-11-rv-116.Full Text
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Cho, Yoon Shin, Chien-Hsiun Chen, Cheng Hu, Jirong Long, Rick Twee Hee Ong, Xueling Sim, Fumihiko Takeuchi, et al. “Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.” Nat Genet 44, no. 1 (December 11, 2011): 67–72. https://doi.org/10.1038/ng.1019.Full Text Link to Item
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Ko, Tai-Ming, Wen-Hung Chung, Chun-Yu Wei, Han-Yu Shih, Jung-Kuei Chen, Chia-Hsien Lin, Yuan-Tsong Chen, and Shuen-Iu Hung. “Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome.” J Allergy Clin Immunol 128, no. 6 (December 2011): 1266-1276.e11. https://doi.org/10.1016/j.jaci.2011.08.013.Full Text Link to Item
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Chung, Chia-Min, Tsung-Hsien Lin, Jaw-Wen Chen, Hsin-Bang Leu, Hsin-Chou Yang, Hung-Yun Ho, Chih-Tai Ting, et al. “A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes.” Diabetes 60, no. 9 (September 2011): 2417–23. https://doi.org/10.2337/db10-1321.Full Text Link to Item
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Mu, Shu-Chi, Yi-Jung Lin, Hwa-Chang Liu, Jer-Yuarn Wu, Sing-Chung Li, Ming-Ta Michael Lee, Ching-Heng Chou, Liang-Kuang Chen, and Yuan-Tsong Chen. “A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.” Annals of Human Genetics 75, no. 5 (September 2011): 575–83. https://doi.org/10.1111/j.1469-1809.2011.00667.x.Full Text
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Chen, P., Y. T. Chen, and C. Y. Shen. “The authors reply.” New England Journal of Medicine 365, no. 7 (August 18, 2011): 673. https://doi.org/10.1056/NEJMc1106933.Full Text
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Banugaria, Suhrad G., Sean N. Prater, Yiu-Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, Yuan-Tsong Chen, Amy S. Rosenberg, and Priya S. Kishnani. “The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.” Genet Med 13, no. 8 (August 2011): 729–36. https://doi.org/10.1097/GIM.0b013e3182174703.Full Text Link to Item
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Sabbagha, Nagham George Abd Al-Ahad, Hsiao-Jung Kao, Chih-Fu Yang, Cheng-Chih Huang, Wei-De Lin, Fuu-Jen Tsai, Tzu-Ho Chen, Woan-Yuh Tarn, Jer-Yuarn Wu, and Yuan-Tsong Chen. “Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.” Pediatr Res 70, no. 1 (July 2011): 31–36. https://doi.org/10.1203/PDR.0b013e31821b89ee.Full Text Link to Item
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Lin, Chien-Hsing, Jen-Kou Lin, Shih-Ching Chang, Ya-Hui Chang, Hwey-May Chang, Jin-Hwang Liu, Ling-Hui Li, Yuan-Tsong Chen, Shih-Feng Tsai, and Wei-Shone Chen. “Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan.” J Biomed Sci 18 (June 7, 2011): 36. https://doi.org/10.1186/1423-0127-18-36.Full Text Link to Item
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Kato, Norihiro, Fumihiko Takeuchi, Yasuharu Tabara, Tanika N. Kelly, Min Jin Go, Xueling Sim, Wan Ting Tay, et al. “Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.” Nat Genet 43, no. 6 (June 2011): 531–38. https://doi.org/10.1038/ng.834.Full Text Link to Item
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Koeberl, Dwight D., Xiaoyan Luo, Baodong Sun, Alison McVie-Wylie, Jian Dai, Songtao Li, Suhrad G. Banugaria, Y. -. T. Chen, and Deeksha S. Bali. “Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.” Mol Genet Metab 103, no. 2 (June 2011): 107–12. https://doi.org/10.1016/j.ymgme.2011.02.006.Full Text Open Access Copy Link to Item
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Lee, M. T. M., C. H. Chen, C. S. Lee, C. C. Chen, M. Y. Chong, W. C. Ouyang, N. Y. Chiu, et al. “Genome-wide association study of bipolar I disorder in the Han Chinese population.” Mol Psychiatry 16, no. 5 (May 2011): 548–56. https://doi.org/10.1038/mp.2010.43.Full Text Link to Item
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Yuan, Hsiang-Yu, Jen-Jie Chiou, Wen-Hsien Tseng, Chia-Hung Liu, Chuan-Kun Liu, Yi-Jung Lin, Hui-Hung Wang, Adam Yao, Yuan-Tsong Chen, and Chun-Nan Hsu. “FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.” Nucleic Acids Res 34, no. Web Server issue (July 1, 2006): W635–41. https://doi.org/10.1093/nar/gkl236.Full Text Link to Item
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Lin, W. H., L. M. Chuang, C. H. Chen, J. I. Yeh, P. S. Hsieh, C. H. Cheng, and Y. T. Chen. “Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.” Diabetologia 49, no. 6 (June 2006): 1214–21. https://doi.org/10.1007/s00125-006-0218-3.Full Text
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Ansong, Annette K., Jennifer S. Li, Eva Nozik-Grayck, Richard Ing, Richard M. Kravitz, Salim F. Idriss, Ronald J. Kanter, Henry Rice, Y. T. Chen, and Priya S. Kishnani. “Electrocardiographic response to enzyme replacement therapy for Pompe disease.” Genet Med 8, no. 5 (May 2006): 297–301. https://doi.org/10.1097/01.gim.0000195896.04069.5f.Full Text Link to Item
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Cook, Amanda L., Priya S. Kishnani, Michael P. Carboni, Ronald J. Kanter, Y. T. Chen, Annette K. Ansong, Richard M. Kravitz, Henry Rice, and Jennifer S. Li. “Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.” Genet Med 8, no. 5 (May 2006): 313–17. https://doi.org/10.1097/01.gim.0000217786.79173.a8.Full Text Link to Item
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Zhang, Haoyue, Helmut Kallwass, Sarah P. Young, Cortney Carr, Jian Dai, Priya S. Kishnani, David S. Millington, Joan Keutzer, Yuan-Tsong Chen, and Deeksha Bali. “Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.” Genet Med 8, no. 5 (May 2006): 302–6. https://doi.org/10.1097/01.gim.0000217781.66786.9b.Full Text Link to Item
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Burrow, T Andrew, Robert J. Hopkin, Kevin E. Bove, Lili Miles, Brenda L. Wong, Arabinda Choudhary, Deeksha Bali, Sing Chung Li, and Yuan-Tsong Chen. “Non-lethal congenital hypotonia due to glycogen storage disease type IV.” Am J Med Genet A 140, no. 8 (April 15, 2006): 878–82. https://doi.org/10.1002/ajmg.a.31166.Full Text Link to Item
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Yang, H. -. C., Y. -. J. Liang, M. -. C. Huang, L. -. H. Li, C. -. H. Lin, J. -. Y. Wu, Y. -. T. Chen, and C. S. J. Fann. “A genome-wide study of preferential amplification/hybridization in microarray-based pooled DNA experiments.” Nucleic Acids Research 34, no. 15 (January 2006): e106. https://doi.org/10.1093/nar/gkl446.Full Text
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An, Yan, Sarah P. Young, Priya S. Kishnani, David S. Millington, Andrea Amalfitano, Deyanira Corz, and Yuan-Tsong Chen. “Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.” Mol Genet Metab 85, no. 4 (August 2005): 247–54. https://doi.org/10.1016/j.ymgme.2005.03.010.Full Text Link to Item
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Yuan, Hsiang-Yu, Jin-Jer Chen, MT Michael Lee, Ju-Chieh Wung, Ying-Fu Chen, Min-Ji Charng, Ming-Jen Lu, et al. “A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.” Hum Mol Genet 14, no. 13 (July 1, 2005): 1745–51. https://doi.org/10.1093/hmg/ddi180.Full Text Link to Item
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Liu, Yu-Fen, Wei-Ming Chen, Yung-Feng Lin, Ruei-Cheng Yang, Ming-Wei Lin, Ling-Hui Li, Ya-Hui Chang, et al. “Type II collagen gene variants and inherited osteonecrosis of the femoral head.” N Engl J Med 352, no. 22 (June 2, 2005): 2294–2301. https://doi.org/10.1056/NEJMoa042480.Full Text Link to Item
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Hung, S. I., W. H. Chung, L. B. Liou, C. C. Chu, M. Lin, H. P. Huang, Y. L. Lin, et al. “Erratum: HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol (Proceedings of the National Academy of Sciences of the United States of America (March 15, 2005) 102, 11 (4134-4139)).” Proceedings of the National Academy of Sciences of the United States of America 102, no. 17 (April 26, 2005): 6237. https://doi.org/10.1073/pnas.0502360102.Full Text
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Das, B. B., M. R. Narkewicz, R. J. Sokol, Y. T. Chen, D. Bali, S. C. Li, M. R. Matthews, G. W. Mierau, and D. D. Ivy. “Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.” Pediatr Transplant 9, no. 2 (April 2005): 261–65. https://doi.org/10.1111/j.1399-3046.2005.00282.x.Full Text Link to Item
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Hung, Shuen-Iu, Wen-Hung Chung, Lieh-Bang Liou, Chen-Chung Chu, Marie Lin, Hsien-Ping Huang, Yen-Ling Lin, et al. “HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.” Proc Natl Acad Sci U S A 102, no. 11 (March 15, 2005): 4134–39. https://doi.org/10.1073/pnas.0409500102.Full Text Link to Item
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Hwu, W. -. L., C. -. F. Yang, C. S. J. Fann, C. -. L. Chen, T. -. F. Tsai, Y. -. H. Chien, S. -. C. Chiang, et al. “Mapping of psoriasis to 17q terminus.” J Med Genet 42, no. 2 (February 2005): 152–58. https://doi.org/10.1136/jmg.2004.018564.Full Text Link to Item
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Xu, Fang, Enyu Ding, Felicia Migone, Delila Serra, Ayn Schneider, Yuan-Tsong Chen, and Andrea Amalfitano. “Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.” J Gene Med 7, no. 2 (February 2005): 171–78. https://doi.org/10.1002/jgm.660.Full Text Link to Item
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Franco, L. M., V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, et al. “Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.” J Inherit Metab Dis 28, no. 2 (2005): 153–62. https://doi.org/10.1007/s10545-005-7500-2.Full Text Link to Item
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Sun, Baodong, Haoyue Zhang, Luis M. Franco, Sarah P. Young, Ayn Schneider, Andrew Bird, Andrea Amalfitano, Y. -. T. Chen, and Dwight D. Koeberl. “Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.” Mol Ther 11, no. 1 (January 2005): 57–65. https://doi.org/10.1016/j.ymthe.2004.10.004.Full Text Link to Item
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Xu, F., E. Ding, S. X. Liao, F. Migone, J. Dai, A. Schneider, D. Serra, Y. T. Chen, and A. Amalfitano. “Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.” Gene Ther 11, no. 21 (November 2004): 1590–98. https://doi.org/10.1038/sj.gt.3302314.Full Text Link to Item
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Hunley, Tracy E., Deyanira Corzo, Martha Dudek, Priya Kishnani, Andrea Amalfitano, Yuan-Tsong Chen, Susan M. Richards, John A. Phillips, Agnes B. Fogo, and George E. Tiller. “Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.” Pediatrics 114, no. 4 (October 2004): e532–35. https://doi.org/10.1542/peds.2003-0988-L.Full Text Link to Item
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Lees, S. J., Y. -. T. Chen, and J. H. Williams. “Glycogen debranching enzyme is associated with rat skeletal muscle sarcoplasmic reticulum.” Acta Physiol Scand 181, no. 2 (June 2004): 239–45. https://doi.org/10.1111/j.1365-201X.2004.01278.x.Full Text Link to Item
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Quan, Hui, Krairerk Athirakul, William C. Wetsel, Gonzalo E. Torres, Robert Stevens, Y. T. Chen, Thomas M. Coffman, and Marc G. Caron. “Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2.” Mol Cell Biol 24, no. 10 (May 2004): 4166–73. https://doi.org/10.1128/mcb.24.10.4166-4173.2004.Full Text Link to Item
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Chung, Wen-Hung, Shuen-Iu Hung, Hong-Shang Hong, Mo-Song Hsih, Li-Cheng Yang, Hsin-Chun Ho, Jer-Yuarn Wu, and Yuan-Tsong Chen. “Medical genetics: a marker for Stevens-Johnson syndrome.” Nature 428, no. 6982 (April 1, 2004): 486. https://doi.org/10.1038/428486a.Full Text Link to Item
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Wu, Jer-Yuarn, Hsiao-Jung Kao, Sing-Chung Li, Robert Stevens, Steven Hillman, David Millington, and Yuan-Tsong Chen. “ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.” J Clin Invest 113, no. 3 (February 2004): 434–40. https://doi.org/10.1172/JCI19574.Full Text Link to Item
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Chung, W. H., S. I. Hung, H. S. Hong, M. S. Hsih, L. C. Yang, H. C. Ho, J. Y. Wu, and Y. T. Chen. “Medical genetics: a marker for Stevens-Johnson syndrome.” Nature 428, no. 6982 (2004): 486-.
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Koeberl, Dwight D., Sarah P. Young, Niels S. Gregersen, Jerry Vockley, Wendy E. Smith, Daniel Kelly Benjamin, Yan An, et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.” Pediatr Res 54, no. 2 (August 2003): 219–23. https://doi.org/10.1203/01.PDR.0000074972.36356.89.Full Text Link to Item
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Young, Sarah P., Robert D. Stevens, Yan An, Yuan-Tsong Chen, and David S. Millington. “Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.” Anal Biochem 316, no. 2 (May 15, 2003): 175–80. https://doi.org/10.1016/s0003-2697(03)00056-3.Full Text Link to Item
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McVie-Wylie, A. J., E. Y. Ding, T. Lawson, D. Serra, F. K. Migone, D. Pressley, M. Mizutani, T. Kikuchi, Y. T. Chen, and A. Amalfitano. “Multiple muscles in the AMD quail can be "cross-corrected" of pathologic glycogen accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acid-alpha-glucosidase.” J Gene Med 5, no. 5 (May 2003): 399–406. https://doi.org/10.1002/jgm.355.Full Text Link to Item
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Sun, Baodong, Y. -. T. Chen, Andrew Bird, Fang Xu, Yang-Xun Hou, Andrea Amalfitano, and Dwight D. Koeberl. “Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.” Mol Ther 7, no. 4 (April 2003): 467–77. https://doi.org/10.1016/s1525-0016(03)00022-4.Full Text Link to Item
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Sun, Bao-dong, Y. -. T. Chen, Andrew Bird, Andrea Amalfitano, and Dwight D. Koeberl. “Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector.” Mol Ther 7, no. 2 (February 2003): 193–201. https://doi.org/10.1016/s1525-0016(02)00055-2.Full Text Link to Item
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Wylie, Andrew A., David J. Pulford, Alison J. McVie-Wylie, Robert A. Waterland, Heather K. Evans, Yuan-Tsong Chen, Catherine M. Nolan, Terry C. Orton, and Randy L. Jirtle. “Tissue-specific inactivation of murine M6P/IGF2R.” Am J Pathol 162, no. 1 (January 2003): 321–28. https://doi.org/10.1016/S0002-9440(10)63823-0.Full Text Link to Item
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Young, S. P., Y. An, J. Van Hove, R. D. Stevens, Y. T. Chen, and D. S. Millington. “Isomeric oligosaccharide analysis using hydrophilic interaction LC-ESI-MS/MS.” Proceedings 50th Asms Conference on Mass Spectrometry and Allied Topics, December 1, 2002, 413–14.
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Matern, Dietrich, Hans Hermann Seydewitz, Deeksha Bali, Christine Lang, and Yuan-Tsong Chen. “Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.” Eur J Pediatr 161 Suppl 1 (October 2002): S10–19. https://doi.org/10.1007/s00431-002-0998-5.Full Text Link to Item
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Ahearn, Eileen P., Marcy C. Speer, Y. T. Chen, David C. Steffens, Frederick Cassidy, Susan Van Meter, James M. Provenzale, Richard H. Weisler, and K Ranga Rama Krishnan. “Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.” Am J Med Genet 114, no. 6 (August 8, 2002): 652–58. https://doi.org/10.1002/ajmg.10512.Full Text Link to Item
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Beaty, R. M., M. Jackson, D. Peterson, A. Bird, T. Brown, D. K. Benjamin, T. Juopperi, et al. “Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.” Gene Ther 9, no. 15 (August 2002): 1015–22. https://doi.org/10.1038/sj.gt.3301728.Full Text Link to Item
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Chen, Yuan-Tsong, Deeksha Bali, and Jennifer Sullivan. “Prenatal diagnosis in glycogen storage diseases.” Prenat Diagn 22, no. 5 (May 2002): 357–59. https://doi.org/10.1002/pd.166.Full Text Link to Item
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Ding, Enyu, Huimin Hu, Bradley L. Hodges, Felicia Migone, Delila Serra, Fang Xu, Yuan-Tsong Chen, and Andrea Amalfitano. “Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction.” Mol Ther 5, no. 4 (April 2002): 436–46. https://doi.org/10.1006/mthe.2002.0563.Full Text Link to Item
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Joost, Hans-Georg, Graeme I. Bell, James D. Best, Morris J. Birnbaum, Maureen J. Charron, Y. T. Chen, Holger Doege, et al. “Nomenclature of the GLUT/SLC2A family of sugar/polyol transport facilitators.” Am J Physiol Endocrinol Metab 282, no. 4 (April 2002): E974–76. https://doi.org/10.1152/ajpendo.00407.2001.Full Text Link to Item
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Chou, Janice Yang, Dietrich Matern, Brian C. Mansfield, and Yuan-Tsong Chen. “Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.” Curr Mol Med 2, no. 2 (March 2002): 121–43. https://doi.org/10.2174/1566524024605798.Full Text Link to Item
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Shen, J. J., and Y. T. Chen. “Molecular characterization of glycogen storage disease type III.” Curr Mol Med 2, no. 2 (March 2002): 167–75. https://doi.org/10.2174/1566524024605752.Full Text Link to Item
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Chittajallu, R., Y. Chen, H. Wang, X. Yuan, C. A. Ghiani, T. Heckman, C. J. McBain, and V. Gallo. “Regulation of Kv1 subunit expression in oligodendrocyte progenitor cells and their role in G1/S phase progression of the cell cycle.” Proc Natl Acad Sci U S A 99, no. 4 (February 19, 2002): 2350–55. https://doi.org/10.1073/pnas.042698399.Full Text Link to Item
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Smith, W. E., S. G. Kahler, D. P. Frush, D. E. Milov, M. R. Gottfried, and Y. T. Chen. “Hepatic storage of glycogen in Niemann-Pick disease type B.” J Pediatr 138, no. 6 (June 2001): 946–48. https://doi.org/10.1067/mpd.2001.113103.Full Text Link to Item
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Ding, E. Y., B. L. Hodges, H. Hu, A. J. McVie-Wylie, D. Serra, F. K. Migone, D. Pressley, Y. T. Chen, and A. Amalfitano. “Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.” Hum Gene Ther 12, no. 8 (May 20, 2001): 955–65. https://doi.org/10.1089/104303401750195917.Full Text Link to Item
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Santer, R., M. Kinner, U. Steuerwald, S. Kjaergaard, F. Skovby, H. Simonsen, W. L. Shaiu, Y. T. Chen, R. Schneppenheim, and J. Schaub. “Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.” Eur J Hum Genet 9, no. 5 (May 2001): 388–91. https://doi.org/10.1038/sj.ejhg.5200632.Full Text Link to Item
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Amalfitano, A., A. R. Bengur, R. P. Morse, J. M. Majure, L. E. Case, D. L. Veerling, J. Mackey, et al. “Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.” Genet Med 3, no. 2 (March 2001): 132–38.Link to Item
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McVie-Wylie, A. J., D. R. Lamson, and Y. T. Chen. “Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.” Genomics 72, no. 1 (February 15, 2001): 113–17. https://doi.org/10.1006/geno.2000.6457.Full Text Link to Item
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Kishnani, P. S., E. Faulkner, S. VanCamp, M. Jackson, T. Brown, A. Boney, D. Koeberl, and Y. T. Chen. “Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).” Vet Pathol 38, no. 1 (January 2001): 83–91. https://doi.org/10.1354/vp.38-1-83.Full Text Link to Item
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An, Y., S. P. Young, S. L. Hillman, J. L. Van Hove, Y. T. Chen, and D. S. Millington. “Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.” Anal Biochem 287, no. 1 (December 1, 2000): 136–43. https://doi.org/10.1006/abio.2000.4838.Full Text Link to Item
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Weston, B. W., J. L. Lin, J. Muenzer, H. S. Cameron, R. R. Arnold, H. H. Seydewitz, E. Mayatepek, et al. “Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.” Pediatr Res 48, no. 3 (September 2000): 329–34. https://doi.org/10.1203/00006450-200009000-00011.Full Text Link to Item
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Chen, Y. T., and A. Amalfitano. “Towards a molecular therapy for glycogen storage disease type II (Pompe disease).” Mol Med Today 6, no. 6 (June 2000): 245–51. https://doi.org/10.1016/s1357-4310(00)01694-4.Full Text Link to Item
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Shen, J. J., D. Matern, D. S. Millington, S. Hillman, M. D. Feezor, M. J. Bennett, M. Qumsiyeh, S. G. Kahler, Y. T. Chen, and J. L. Van Hove. “Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.” J Inherit Metab Dis 23, no. 1 (February 2000): 27–44. https://doi.org/10.1023/a:1005694712583.Full Text Link to Item
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Shaiu, W. L., P. S. Kishnani, J. Shen, H. M. Liu, and Y. T. Chen. “Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.” Mol Genet Metab 69, no. 1 (January 2000): 16–23. https://doi.org/10.1006/mgme.1999.2953.Full Text Link to Item
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Matern, D., T. E. Starzl, W. Arnaout, J. Barnard, J. S. Bynon, A. Dhawan, J. Emond, et al. “Liver transplantation for glycogen storage disease types I, III, and IV.” Eur J Pediatr 158 Suppl 2 (December 1999): S43–48. https://doi.org/10.1007/pl00014320.Full Text Link to Item
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Ahmad, A., A. Amalfitano, Y. T. Chen, P. S. Kishnani, C. Miller, and R. Kelley. “Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?” Am J Med Genet 86, no. 5 (October 29, 1999): 503–4.Link to Item
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Kishnani, P. S., A. Boney, and Y. T. Chen. “Nutritional deficiencies in a patient with glycogen storage disease type Ib.” J Inherit Metab Dis 22, no. 7 (October 1999): 795–801. https://doi.org/10.1023/a:1005549823146.Full Text Link to Item
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Shen, J., H. M. Liu, A. McConkie-Rosell, and Y. T. Chen. “Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.” Prenat Diagn 19, no. 9 (September 1999): 837–39. https://doi.org/10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g.Full Text Link to Item
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Veiga-da-Cunha, M., I. Gerin, Y. T. Chen, P. J. Lee, J. V. Leonard, I. Maire, U. Wendel, M. Vikkula, and E. Van Schaftingen. “The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.” Eur J Hum Genet 7, no. 6 (September 1999): 717–23. https://doi.org/10.1038/sj.ejhg.5200366.Full Text Link to Item
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Amalfitano, A., A. J. McVie-Wylie, H. Hu, T. L. Dawson, N. Raben, P. Plotz, and Y. T. Chen. “Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.” Proc Natl Acad Sci U S A 96, no. 16 (August 3, 1999): 8861–66. https://doi.org/10.1073/pnas.96.16.8861.Full Text Link to Item
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Hadjigeorgiou, G. M., G. P. Comi, A. Bordoni, J. Shen, Y. T. Chen, S. Salani, A. Toscano, et al. “Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.” J Inherit Metab Dis 22, no. 6 (August 1999): 762–63. https://doi.org/10.1023/a:1005572906807.Full Text Link to Item
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Chen, Y. T. “A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.” Hum Genet 104, no. 1 (January 1999): 111–12. https://doi.org/10.1007/s004390050920.Full Text Link to Item
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Veiga-da-Cunha, M., I. Gerin, Y. T. Chen, T. de Barsy, P. de Lonlay, C. Dionisi-Vici, C. D. Fenske, et al. “A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.” American Journal of Human Genetics 63, no. 4 (October 1998): 976–83. https://doi.org/10.1086/302068.Full Text
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Parvari, R., J. Shen, E. Hershkovitz, Y. T. Chen, and S. W. Moses. “Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.” J Inherit Metab Dis 21, no. 2 (April 1998): 141–48. https://doi.org/10.1023/a:1005343625756.Full Text Link to Item
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Yang, H. W., T. Kikuchi, Y. Hagiwara, M. Mizutani, Y. T. Chen, and J. L. Van Hove. “Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.” Pediatr Res 43, no. 3 (March 1998): 374–80. https://doi.org/10.1203/00006450-199803000-00011.Full Text Link to Item
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Kikuchi, T., H. W. Yang, M. Pennybacker, N. Ichihara, M. Mizutani, J. L. Van Hove, and Y. T. Chen. “Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.” The Journal of Clinical Investigation 101, no. 4 (February 1998): 827–33. https://doi.org/10.1172/jci1722.Full Text
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Shen, J., H. M. Liu, A. McConkie-Rosell, and Y. T. Chen. “Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.” Prenat Diagn 18, no. 1 (January 1998): 61–64. https://doi.org/10.1002/(sici)1097-0223(199801)18:1<61::aid-pd223>3.0.co;2-i.Full Text Link to Item
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Kunita, R., O. Nakabayashi, J. Y. Wu, Y. Hagiwara, M. Mizutani, M. Pennybacker, Y. T. Chen, and T. Kikuchi. “Molecular cloning of acid alpha-glucosidase cDNA of Japanese quail (Coturnix coturnix japonica) and the lack of its mRNA in acid maltase deficient quails.” Biochim Biophys Acta 1362, no. 2–3 (December 31, 1997): 269–78. https://doi.org/10.1016/s0925-4439(97)00092-6.Full Text Link to Item
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Van Hove, J. L., H. W. Yang, L. M. Oliver, M. F. Pennybacker, and Y. T. Chen. “Purification of recombinant human precursor acid alpha-glucosidase.” Biochem Mol Biol Int 43, no. 3 (October 1997): 613–23. https://doi.org/10.1080/15216549700204421.Full Text Link to Item
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Bao, Y., B. Z. Yang, T. L. Dawson, and Y. T. Chen. “Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.” Gene 197, no. 1–2 (September 15, 1997): 389–98. https://doi.org/10.1016/s0378-1119(97)00291-6.Full Text Link to Item
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Parvari, R., S. Moses, J. Shen, E. Hershkovitz, A. Lerner, and Y. T. Chen. “A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.” Eur J Hum Genet 5, no. 5 (September 1997): 266–70.Link to Item
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Kishnani, P. S., Y. Bao, J. Y. Wu, A. E. Brix, J. L. Lin, and Y. T. Chen. “Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.” Biochem Mol Med 61, no. 2 (August 1997): 168–77. https://doi.org/10.1006/bmme.1997.2600.Full Text Link to Item
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Svetkey, L. P., Y. T. Chen, S. P. McKeown, L. Preis, and A. F. Wilson. “Preliminary evidence of linkage of salt sensitivity in black Americans at the beta 2-adrenergic receptor locus.” Hypertension 29, no. 4 (April 1997): 918–22. https://doi.org/10.1161/01.hyp.29.4.918.Full Text Link to Item
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Shen, J., H. M. Liu, Y. Bao, and Y. T. Chen. “Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.” J Med Genet 34, no. 1 (January 1997): 34–38. https://doi.org/10.1136/jmg.34.1.34.Full Text Link to Item
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Shen, J., Y. Bao, and Y. T. Chen. “A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.” Hum Mutat 9, no. 1 (1997): 37–40. https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M.Full Text Link to Item
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Bao, Y., T. L. Dawson, and Y. T. Chen. “Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.” Genomics 38, no. 2 (December 1, 1996): 155–65. https://doi.org/10.1006/geno.1996.0611.Full Text Link to Item
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Wang, M., P. Kishnani, M. Decker-Phillips, S. G. Kahler, Y. T. Chen, and M. Godfrey. “Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.” J Med Genet 33, no. 9 (September 1996): 760–63. https://doi.org/10.1136/jmg.33.9.760.Full Text Link to Item
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Shen, J., Y. Bao, H. M. Liu, P. Lee, J. V. Leonard, and Y. T. Chen. “Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.” The Journal of Clinical Investigation 98, no. 2 (July 1996): 352–57. https://doi.org/10.1172/jci118799.Full Text
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Wu, J. Y., J. L. Van Hove, Y. S. Huang, and Y. T. Chen. “Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.” Biochem Mol Biol Int 39, no. 4 (July 1996): 755–64. https://doi.org/10.1080/15216549600201841.Full Text Link to Item
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Svetkey, L. P., P. Z. Timmons, O. Emovon, N. B. Anderson, L. Preis, and Y. T. Chen. “Association of hypertension with beta2- and alpha2c10-adrenergic receptor genotype.” Hypertension 27, no. 6 (June 1996): 1210–15. https://doi.org/10.1161/01.hyp.27.6.1210.Full Text Link to Item
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Bao, Y., P. Kishnani, J. Y. Wu, and Y. T. Chen. “Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.” J Clin Invest 97, no. 4 (February 15, 1996): 941–48. https://doi.org/10.1172/JCI118517.Full Text Link to Item
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Van Hove, J. L., H. W. Yang, J. Y. Wu, R. O. Brady, and Y. T. Chen. “High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.” Proc Natl Acad Sci U S A 93, no. 1 (January 9, 1996): 65–70. https://doi.org/10.1073/pnas.93.1.65.Full Text Link to Item
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Kishnani, P., A. R. Bengur, and Y. T. Chen. “Pulmonary hypertension in glycogen storage disease type I.” J Inherit Metab Dis 19, no. 2 (1996): 213–16. https://doi.org/10.1007/BF01799432.Full Text Link to Item
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McConkie-Rosell, A., C. Wilson, D. A. Piccoli, J. Boyle, T. DeClue, P. Kishnani, J. J. Shen, A. Boney, B. Brown, and Y. T. Chen. “Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.” J Inherit Metab Dis 19, no. 1 (1996): 51–58. https://doi.org/10.1007/BF01799348.Full Text Link to Item
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Lei, K. J., Y. T. Chen, H. Chen, L. J. Wong, J. L. Liu, A. McConkie-Rosell, J. L. Van Hove, H. C. Ou, N. J. Yeh, and L. Y. Pan. “Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.” Am J Hum Genet 57, no. 4 (October 1995): 766–71.Link to Item
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Brix, A. E., E. W. Howerth, A. McConkie-Rosell, D. Peterson, D. Egnor, M. R. Wells, and Y. T. Chen. “Glycogen storage disease type Ia in two littermate Maltese puppies.” Veterinary Pathology 32, no. 5 (September 1995): 460–65. https://doi.org/10.1177/030098589503200502.Full Text
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Chen, Y. T., and J. L. Van Hove. “Renal involvement in type I glycogen storage disease.” Adv Nephrol Necker Hosp 24 (1995): 357–65.Link to Item
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Lei, K. J., L. L. Shelly, B. Lin, J. B. Sidbury, Y. T. Chen, R. C. Nordlie, and J. Y. Chou. “Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.” The Journal of Clinical Investigation 95, no. 1 (January 1995): 234–40. https://doi.org/10.1172/jci117645.Full Text
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Mishori-Dery, A., N. Bashan, S. Moses, E. Hershkovitz, Y. Bao, Y. T. Chen, and R. Parvari. “RFLPs for linkage analysis in families with glycogen storage disease type III.” J Inherit Metab Dis 18, no. 2 (1995): 207–10. https://doi.org/10.1007/BF00711768.Full Text Link to Item
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Andresen, B. S., T. G. Jensen, P. Bross, I. Knudsen, V. Winter, S. Kølvraa, L. Bolund, J. H. Ding, Y. T. Chen, and J. L. Van Hove. “Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.” Am J Hum Genet 54, no. 6 (June 1994): 975–88.Link to Item
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Tang, T. T., A. D. Segura, Y. T. Chen, L. M. Ricci, R. A. Franciosi, M. L. Splaingard, and M. S. Lubinsky. “Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.” Acta Neuropathol 87, no. 5 (1994): 531–36. https://doi.org/10.1007/BF00294181.Full Text Link to Item
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Markowitz, A. J., Y. T. Chen, J. Muenzer, E. A. Delbuono, and M. R. Lucey. “A man with type III glycogenosis associated with cirrhosis and portal hypertension.” Gastroenterology 105, no. 6 (December 1993): 1882–85. https://doi.org/10.1016/0016-5085(93)91088-y.Full Text Link to Item
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Gregersen, N., V. Winter, D. Curtis, T. Deufel, M. Mack, J. Hendrickx, P. J. Willems, A. Ponzone, T. Parrella, and R. Ponzone. “Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.” Hum Hered 43, no. 6 (November 1993): 342–50. https://doi.org/10.1159/000154157.Full Text Link to Item
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Van Hove, J. L., W. Zhang, S. G. Kahler, C. R. Roe, Y. T. Chen, N. Terada, D. H. Chace, A. K. Iafolla, J. H. Ding, and D. S. Millington. “Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.” Am J Hum Genet 52, no. 5 (May 1993): 958–66.Link to Item
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Hermans, M. M., L. P. Svetkey, B. A. Oostra, Y. T. Chen, and A. J. Reuser. “The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.” Genomics 16, no. 1 (April 1993): 300–301. https://doi.org/10.1006/geno.1993.1185.Full Text Link to Item
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Chen, Y. T., C. H. Bazzarre, M. M. Lee, J. B. Sidbury, and R. A. Coleman. “Type I glycogen storage disease: nine years of management with cornstarch.” Eur J Pediatr 152 Suppl 1 (1993): S56–59. https://doi.org/10.1007/BF02072090.Full Text Link to Item
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Van Hove, J. L., A. McConkie-Rosell, Y. T. Chen, A. K. Iafolla, J. T. Lanman, M. D. Hennessy, and S. G. Kahler. “Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.” Am J Med Genet 44, no. 1 (September 1, 1992): 24–30. https://doi.org/10.1002/ajmg.1320440107.Full Text Link to Item
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Yang-Feng, T. L., K. Zheng, J. Yu, B. Z. Yang, Y. T. Chen, and F. T. Kao. “Assignment of the human glycogen debrancher gene to chromosome 1p21.” Genomics 13, no. 4 (August 1992): 931–34. https://doi.org/10.1016/0888-7543(92)90003-b.Full Text Link to Item
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Coleman, R. A., H. S. Winter, B. Wolf, J. M. Gilchrist, and Y. T. Chen. “Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.” Ann Intern Med 116, no. 11 (June 1, 1992): 896–900. https://doi.org/10.7326/0003-4819-116-11-896.Full Text Link to Item
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Yang, B. Z., J. H. Ding, J. J. Enghild, Y. Bao, and Y. T. Chen. “Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.” J Biol Chem 267, no. 13 (May 5, 1992): 9294–99.Link to Item
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Iafolla, A. K., S. G. Kahler, and Y. T. Chen. “Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency.” J Pediatr 120, no. 3 (March 1992): 496–97. https://doi.org/10.1016/s0022-3476(05)80932-1.Full Text Link to Item
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Park, H. K., H. H. Kay, A. McConkie-Rosell, J. Lanman, and Y. T. Chen. “Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.” Prenat Diagn 12, no. 3 (March 1992): 169–73. https://doi.org/10.1002/pd.1970120305.Full Text Link to Item
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Coleman, R. A., H. S. Winter, B. Wolf, and Y. T. Chen. “Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.” J Inherit Metab Dis 15, no. 6 (1992): 869–81. https://doi.org/10.1007/BF01800225.Full Text Link to Item
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Ding, J. H., B. Z. Yang, Y. Bao, C. R. Roe, and Y. T. Chen. “Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.” Am J Hum Genet 50, no. 1 (January 1992): 229–33.Link to Item
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Ding, J. H., P. Bross, B. Z. Yang, A. K. Iafolla, D. S. Millington, C. R. Roe, N. Gregersen, and Y. T. Chen. “Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.” Prog Clin Biol Res 375 (1992): 479–88.Link to Item
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Millington, D. S., N. Terada, D. H. Chace, Y. T. Chen, J. H. Ding, N. Kodo, and C. R. Roe. “The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.” Prog Clin Biol Res 375 (1992): 339–54.Link to Item
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Tanaka, K., I. Yokota, P. M. Coates, A. W. Strauss, D. P. Kelly, Z. Zhang, N. Gregersen, B. S. Andresen, Y. Matsubara, and D. Curtis. “Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.” Hum Mutat 1, no. 4 (1992): 271–79. https://doi.org/10.1002/humu.1380010402.Full Text Link to Item
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Park, H. K., S. G. Kahler, and Y. T. Chen. “Brain abscess in glycogen storage disease type Ib.” Acta Paediatr Scand 80, no. 11 (November 1991): 1103–6. https://doi.org/10.1111/j.1651-2227.1991.tb11793.x.Full Text Link to Item
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Ding, J. H., C. R. Roe, A. K. Iafolla, and Y. T. Chen. “Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.” N Engl J Med 325, no. 1 (July 4, 1991): 61–62. https://doi.org/10.1056/NEJM199107043250113.Full Text Link to Item
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Hug, G., G. Chuck, Y. T. Chen, H. H. Kay, and E. H. Bossen. “Chorionic villus ultrastructure in type II glycogen storage disease (Pompe's disease).” N Engl J Med 324, no. 5 (January 31, 1991): 342–43. https://doi.org/10.1056/NEJM199101313240517.Full Text Link to Item
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Chen, Y. T. “Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.” Pediatr Nephrol 5, no. 1 (January 1991): 71–76. https://doi.org/10.1007/BF00852851.Full Text Link to Item
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Chen, Y. T., and J. I. Scheinman. “Hyperglycaemia associated with lactic acidaemia in a renal allograft recipient with type I glycogen storage disease.” J Inherit Metab Dis 14, no. 1 (1991): 80–86. https://doi.org/10.1007/BF01804394.Full Text Link to Item
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Iafolla, A. K., A. McConkie-Rosell, and Y. T. Chen. “VATER and hydrocephalus: distinct syndrome?” Am J Med Genet 38, no. 1 (January 1991): 46–51. https://doi.org/10.1002/ajmg.1320380112.Full Text Link to Item
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Yang, B. Z., C. Stewart, J. H. Ding, and Y. T. Chen. “Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.” Neuromuscul Disord 1, no. 3 (1991): 173–76. https://doi.org/10.1016/0960-8966(91)90021-j.Full Text Link to Item
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Yang, B. Z., J. H. Ding, B. I. Brown, and Y. T. Chen. “Definitive prenatal diagnosis for type III glycogen storage disease.” Am J Hum Genet 47, no. 4 (October 1990): 735–39.Link to Item
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“Mutations in medium chain acyl-CoA dehydrogenase deficiency.” Lancet 336, no. 8717 (September 22, 1990): 748–49.Link to Item
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Monteith, D. K., D. Ding, Y. T. Chen, G. Michalopoulos, and S. C. Strom. “Induction of cytochrome P(1)450 RNA and benzo[a]pyrene metabolism in primary human hepatocyte cultures with benzanthracene.” Toxicol Appl Pharmacol 105, no. 3 (September 15, 1990): 460–71. https://doi.org/10.1016/0041-008x(90)90149-o.Full Text Link to Item
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Chen, Y. T., J. I. Scheinman, H. K. Park, R. A. Coleman, and C. R. Roe. “Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy.” N Engl J Med 323, no. 9 (August 30, 1990): 590–93. https://doi.org/10.1056/NEJM199008303230907.Full Text Link to Item
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Chen, Y. T., K. A. Feinstein, R. A. Coleman, and E. L. Effmann. “Variability of renal length in type I glycogen storage disease.” J Inherit Metab Dis 13, no. 3 (1990): 259–62. https://doi.org/10.1007/BF01799367.Full Text Link to Item
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Ding, J. H., T. de Barsy, B. I. Brown, R. A. Coleman, and Y. T. Chen. “Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.” J Pediatr 116, no. 1 (January 1990): 95–100. https://doi.org/10.1016/s0022-3476(05)81652-x.Full Text Link to Item
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McConkie-Rosell, A., Y. T. Chen, D. Harris, M. C. Speer, M. A. Pericak-Vance, J. H. Ding, W. E. Highsmith, M. Knowles, and S. G. Kahler. “Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.” Ann Intern Med 111, no. 10 (November 15, 1989): 797–801. https://doi.org/10.7326/0003-4819-111-10-797.Full Text Link to Item
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Crespi, C. L., R. Langenbach, K. Rudo, Y. T. Chen, and R. L. Davies. “Transfection of a human cytochrome P-450 gene into the human lymphoblastoid cell line, AHH-1, and use of the recombinant cell line in gene mutation assays.” Carcinogenesis 10, no. 2 (February 1989): 295–301. https://doi.org/10.1093/carcin/10.2.295.Full Text Link to Item
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“Renal disease in type 1 glycogen storage disease.” N Engl J Med 318, no. 26 (June 30, 1988): 1759–60. https://doi.org/10.1056/NEJM198806303182612.Full Text Link to Item
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Chen, Y. T., R. A. Coleman, J. I. Scheinman, P. C. Kolbeck, and J. B. Sidbury. “Renal disease in type I glycogen storage disease.” N Engl J Med 318, no. 1 (January 7, 1988): 7–11. https://doi.org/10.1056/NEJM198801073180102.Full Text Link to Item
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Miki, T., I. Nishisho, H. Tateishi, Y. Chen, J. R. Kidd, J. Wu, D. Pravtcheva, et al. “D10S20, a previously unmapped RFLP (OS-3), is located on 10q near D10S4.” Genomics 3, no. 1 (1988): 78–81.
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Chen, Y. T., J. K. He, J. H. Ding, and B. I. Brown. “Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.” Am J Hum Genet 41, no. 6 (December 1987): 1002–15.Link to Item
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Chen, Y. T., J. Leinhas, and R. A. Coleman. “Prolongation of normoglycemia in patients with type I glycogen storage disease.” J Pediatr 111, no. 4 (October 1987): 567–70. https://doi.org/10.1016/s0022-3476(87)80124-5.Full Text Link to Item
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Chen, Y. T., and J. H. Ding. “Vitamins E and K induce aryl hydrocarbon hydroxylase activity in human cell cultures.” Biochem Biophys Res Commun 143, no. 3 (March 30, 1987): 863–71. https://doi.org/10.1016/0006-291x(87)90329-9.Full Text Link to Item
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Sidbury, J. B., Y. T. Chen, and C. R. Roe. “The role of raw starches in the treatment of type I glycogenosis.” Arch Intern Med 146, no. 2 (February 1986): 370–73.Link to Item
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Kato, T., J. H. Ding, and Y. T. Chen. “Identification and quantification of a messenger ribonucleic acid induced by polynuclear aromatic hydrocarbons--using a cloned human cytochrome P-450 gene.” Eur J Biochem 151, no. 3 (September 16, 1985): 489–95. https://doi.org/10.1111/j.1432-1033.1985.tb09128.x.Full Text Link to Item
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Chen, Y. T., and T. Kato. “Liver-specific glucose-6-phosphatase is not present in human placenta.” Journal of Inherited Metabolic Disease 8, no. 2 (January 1985): 92–94. https://doi.org/10.1007/bf01801675.Full Text
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Chen, Y. T., D. R. Mattison, B. B. Bercu, and J. D. Schulman. “Resistance of the male gonad to a high galactose diet.” Pediatric Research 18, no. 4 (April 1984): 345–48. https://doi.org/10.1203/00006450-198404000-00008.Full Text
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Nebert, D. W., M. Negishi, Y. T. Chen, and R. H. Tukey. “Cloning genes that encode inducible forms of P-450.” Biochem Soc Trans 12, no. 1 (February 1984): 99–101. https://doi.org/10.1042/bst0120099.Full Text Link to Item
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Chen, Y. T., M. Cornblath, and J. B. Sidbury. “Cornstarch therapy in type I glycogen-storage disease.” N Engl J Med 310, no. 3 (January 19, 1984): 171–75. https://doi.org/10.1056/NEJM198401193100306.Full Text Link to Item
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Chen, Y. T., S. W. Bigelow, R. C. Levitt, and D. W. Nebert. “Screening of 16 common therapeutic drugs. Possible association with the Ah locus.” Dev Pharmacol Ther 6, no. 4 (1983): 269–83. https://doi.org/10.1159/000457313.Full Text Link to Item
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Ikeda, T., M. Altieri, and Y. T. Chen. “Characterization of cytochrome P2-450 (20-S) mRNA. Association with the P1-450 genomic gene and differential response to the inducers 3-methylcholanthrene and isosafrole.” European Journal of Biochemistry 134, no. 1 (1983): 13–18.
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Nakamura, M., M. Negishi, M. Altieri, Y. T. Chen, T. Ikeda, R. H. Tukey, and D. W. Nebert. “Structure of the mouse cytochrome P1-450 genomic gene.” European Journal of Biochemistry 134, no. 1 (1983): 19–25.
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Nebert, D. W., Y. T. Chen, M. Negishi, and R. H. Tukey. “Cloning genes that encode drug-metabolizing enzymes: developmental pharmacology and teratology.” Prog Clin Biol Res 135 (1983): 61–79.Link to Item
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Chen, Y. T., and M. Negishi. “Expression and subcellular distribution of mouse cytochrome P1-450 mRNA as determined by molecular hybridization with cloned P1-450 DNA.” Biochem Biophys Res Commun 104, no. 2 (January 29, 1982): 641–48. https://doi.org/10.1016/0006-291x(82)90685-4.Full Text Link to Item
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Chen, Y. T., M. A. Lang, N. M. Jensen, M. Negishi, R. H. Tukey, E. Sidransky, T. M. Guenther, and D. W. Nebert. “Similarities between mouse and rat-liver microsomal cytochromes P-450 induced by 3-methylcholanthrene. Evidence from catalytic, immunologic, and recombinant DNA studies.” European Journal of Biochemistry 122, no. 2 (1982): 361–68. https://doi.org/10.1111/j.1432-1033.1982.tb05889.x.Full Text
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Chen, Y. T., M. Negishi, and D. W. Nebert. “Cytochrome P1-450 structural gene in mouse, rat, and rabbit: differences in DNA methylation and developmental expression of mRNA.” Dna 1, no. 3 (1982): 231–38. https://doi.org/10.1089/dna.1.1982.1.231.Full Text Link to Item
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Chen, Y. T., D. R. Mattison, L. Feigenbaum, H. Fukui, and J. D. Schulman. “Reduction in oocyte number following prenatal exposure to a diet high in galactose.” Science 214, no. 4525 (December 4, 1981): 1145–47. https://doi.org/10.1126/science.7302587.Full Text Link to Item
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Chen, Y. T., T. E. Worthy, and R. S. Krooth. “Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two.” Somatic Cell Genet 4, no. 3 (May 1978): 265–98. https://doi.org/10.1007/BF01542843.Full Text Link to Item
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Conference Papers
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Matern, D., H. H. Seydewitz, D. Bali, C. Lang, and Y. T. Chen. “Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation.” In European Journal of Pediatrics, Supplement, 161:S10–19, 2002. https://doi.org/10.1007/bf02679989.Full Text
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