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| 1 | Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update显示文摘Ornithine transcarbamylase(OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle.OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. This is the fifth mutation update for human OTC with previous updates reported in 1993, 1995, 2002, and 2006. In the2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publicly available genomic data and examination of phenotype/genotype correlations from patients participating in the Urea Cycle Disorders Consortium Longitudinal Study and the first to evaluate the suitability of systematic computational approaches to predict severity of disease associated with different types of OTC mutations. | Ljubica Caldovic Iman Abdikarim Sahas Narain Mendel Tuchman Hiroki Morizono | 2015 | Journal of Genetics and Genomics2015，42，5： | 19 |
| 2 | 疼痛闸门控制学说的构建与解构显示文摘1.概述
疼痛闸门控制学说的里程碑式的文章发表至今己接近50年,作者Melzack和Wall对疼痛机制做出了清晰的描述,后续的研究都参照闸门控制学说来进行评价,因此对这篇文章的讨论能够为该领域当时及之后的发展提供一个视窗,为现代疼痛理论的发展奠定坚实的理论基础。周围神经病变和电刺激研究为我们描绘了从外周依次经过脊髓、脑干和丘脑投射至皮层的疼痛通路。利用与疼痛机制有重要关联的刺激行为的观察结果建立了新的疼痛概念,闸门控制学说推动了此后疼痛机制的研究。 | Mendell LM 刘婷婷 | 2014 | 中国疼痛医学杂志2014，20，10： | 16 |
| 3 | New GATEWAY vectors for High Throughput Analyses of Protein-Protein Interactions by Bimolecular Fluorescence Complementation显示文摘 | Christian Gehl Rainer Waadt Jorg Kudla Ralf-R. Mendel Robert Hansch | 2009 | Molecular Plant2009，2，5： | 11 |
| 4 | Duchenne 肌肉发达的营养障碍: CRISPR/Cas9 处理显示文摘 | Jerry R Mendell Louise R Rodino-Klapac | 2016 | Cell Research2016，26，5： | 6 |
| 5 | MicroRNAs in Stress Signaling and Human Disease显示文摘 | Joshua T. Mendell Eric N. Olson | 2012 | Cell2012，，6： | 4 |
| 6 | The relationship between reduction in low-density lipoprotein cholesterol by statins and reduction in risk of cardiovascular outcomes: An updated meta-analysis显示文摘 | Philippa J. Delahoy Dianna J. Magliano Kate Webb Mendel Grobler Danny Liew | 2009 | Clinical Therapeutics2009，，2： | 2 |
| 7 | Cell biology of molybdenum显示文摘 | Ralf R. Mendel Florian Bittner | 2006 | BBA - Molecular Cell Research2006，，7： | 2 |
| 8 | miRiad Roles for the miR-17-92 Cluster in Development and Disease显示文摘 | Joshua T. Mendell | 2008 | Cell2008，，2： | 2 |
| 9 | Involvement of Human Micro-RNA in Growth and Response to Chemotherapy in Human Cholangiocarcinoma Cell Lines显示文摘 | Fanyin Meng Roger Henson Molly Lang Hania Wehbe Shail Maheshwari Joshua T. Mendell Jinmai Jiang Thomas D. Schmittgen Tushar Patel | 2006 | Gastroenterology2006，，7： | 2 |
| 10 | 以色列一家大型转诊中心1991-2010年高血压急症的发生率显示文摘高血压急症(hypertensive emergency,HE)是一种危及生命的情况,需要立即降压。虽然HE发生率一直在下降,但在一些国家近来有所增加。该回顾性研究旨在评估一个大型医疗中心20年(1991-2010)HE的发生率。 | 刘莉 叶鹏 Leiba A Cohen-Arazi O Mendel L Holtzman EJ Grossman E | 2016 | 中华高血压杂志2016，24，1： | 2 |
| 11 | Therapeutic microRNA Delivery Suppresses Tumorigenesis in a Murine Liver Cancer Model显示文摘 | Janaiah Kota Raghu R. Chivukula Kathryn A. O’Donnell Erik A. Wentzel Chrystal L. Montgomery Hun-Way Hwang Tsung-Cheng Chang Perumal Vivekanandan Michael Torbenson K. Reed Clark Jerry R. Mendell Joshua T. Mendell | 2009 | Cell2009，，6： | 2 |
| 12 | Transactivation of miR-34a by p53 Broadly Influences Gene Expression and Promotes Apoptosis显示文摘 | Tsung-Cheng Chang Erik A. Wentzel Oliver A. Kent Kalyani Ramachandran Michael Mullendore Kwang Hyuck Lee Georg Feldmann Munekazu Yamakuchi Marcella Ferlito Charles J. Lowenstein Dan E. Arking Michael A. Beer Anirban Maitra Joshua T. Mendell | 2007 | Molecular Cell2007，，： | 2 |
| 13 | Cumulant-based approach to the harmonic retrivel and related problems显示文摘 | A Swami J M Mendel | 1991 | IEEE Trans Acoust Speech Signal Processing1991，39，： | 2 |
| 14 | Signal processing with higher-order spectra显示文摘 | Nikias C L Mendel J M | 1993 | IEEE Signal Processing Magazine1993，10，3： | 2 |
| 15 | Physiologic properties of unmyelinated fiberprojection to the spinal cord显示文摘 | | 1966 | Exp Neurol1966，16，： | 1 |
| 16 | Fuzzy basis functions,universal approximation and orthogonal least-square learning显示文摘 | MENDEL J M | 1992 | IEEE Trans Neural Netw1992，3，5： | 1 |
| 17 | Fuzzy logic systems for engineering: a tutorial显示文摘 | Mendel J M | 1995 | Proceedings of IEEE1995，83，3： | 1 |
| 18 | The C-S lyases of higher plants:preparation and properties of homogeneous alliin lyase from garlic (Allium sativum) 显示文摘 | Nock Linda P Mazelis Mendel | 1986 | Archives of Biochemistry and Biophysics1986，249，1： | 1 |
| 19 | Type-2 fuzzy logic systems显示文摘 | Karnik N Mendel J Liang Q | 1999 | IEEE Transactions on Fuzzy Systems1999，7，6： | 1 |
| 20 | When the message goes awry:diseaseproducing mutations that influence mRNA content and performance显示文摘 | Mendell J T Dietz H C | 2001 | Cell2001，107，4： | 1 |
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