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Items: 6

1.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Robert K. Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma Lopez, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A. Fishman, Mohammed Genead, Jeremy Schwartzentruber, Naimesh Solanki, Elias I. Traboulsi, Jingliang Cheng, Clare V. Logan, Martin McKibbin, Bruce E. Hayward, David A. Parry, Colin A. Johnson, Mohammed Nageeb, Finding of Rare Disease Genes (FORGE) Canada Consortium, James A. Poulter, Moin D. Mohamed, Hussain Jafri, Yasmin Rashid, Graham R. Taylor, Vafa Keser, Graeme Mardon, Huidan Xu, Chris F. Inglehearn, Qing Fu, Carmel Toomes, Rui Chen
Nat Genet. Author manuscript; available in PMC 2013 May 20.
Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1035–1039. Published online 2012 Jul 29. doi: 10.1038/ng.2356
PMCID:
PMC3657614
AbstractArticlePDF–1.4M
2.
NMNAT1 mutations cause Leber congenital amaurosis
Marni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, Chitra Kannabiran, Zoe Fonseca-Kelly, Christina Chakarova, Isabelle Audo, Donna S Mackay, Christina Zeitz, Arundhati Dev Borman, Magdalena Staniszewska, Rachna Shukla, Lakshmi Palavalli, Saddek Mohand-Said, Naushin H Waseem, Subhadra Jalali, Juan C Perin, Emily Place, Julian Ostrovsky, Rui Xiao, Shomi S Bhattacharya, Mark Consugar, Andrew R Webster, José-Alain Sahel, Anthony T Moore, Eliot L Berson, Qin Liu, Xiaowu Gai, Eric A. Pierce
Nat Genet. Author manuscript; available in PMC 2013 Mar 1.
Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1040–1045. Published online 2012 Jul 29. doi: 10.1038/ng.2361
PMCID:
PMC3454532
AbstractArticlePDF–915K
3.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
4.
Quantitative Proteomic Analysis Reveals the Deregulation of Nicotinamide Adenine Dinucleotide Metabolism and CD38 in Inflammatory Bowel Disease
LongGui Ning, Guodong Shan, Zeyu Sun, Fenming Zhang, Chengfu Xu, Xinhe Lou, Sha Li, Haojie Du, Hongtan Chen, Guoqiang Xu
Biomed Res Int. 2019; 2019: 3950628. Published online 2019 Apr 23. doi: 10.1155/2019/3950628
PMCID:
PMC6507272
AbstractArticlePDF–2.1M
5.
In Silico Insight into Potential Anti-Alzheimer’s Disease Mechanisms of Icariin
Zhijie Cui, Zhen Sheng, Xinmiao Yan, Zhiwei Cao, Kailin Tang
Int J Mol Sci. 2016 Jan; 17(1): 113. Published online 2016 Jan 15. doi: 10.3390/ijms17010113
PMCID:
PMC4730354
AbstractArticlePDF–1.2M
6.
Functional Classification of Cellular Proteome Profiles Support the Identification of Drug Resistance Signatures in Melanoma Cells
Verena Paulitschke, Verena Haudek-Prinz, Johannes Griss, Walter Berger, Thomas Mohr, Hubert Pehamberger, Rainer Kunstfeld, Christopher Gerner
J Proteome Res. 2013 Jul 5; 12(7): 3264–3276. Published online 2013 May 29. doi: 10.1021/pr400124w
PMCID:
PMC3733130
AbstractArticlePDF–8.9M

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