- Clan Genomics and the Complex Architecture of Human Disease
[作者:Lupski, JR; Belmont, JW; Boerwinkle, E; Gibbs, RA,期刊:Cell, 页码:32-43 , 文章类型: Article,,卷期:2011年147-1]
- Human diseases are caused by alleles that encompass the full range of variant types, from single-nucleotide changes to copy-number variants, and these variations span a broad frequency spectrum, from the very rare to the...
- Metagenomics and Personalized Medicine
[作者:Virgin, HW; Todd, JA,期刊:Cell, 页码:44-56 , 文章类型: Article,,卷期:2011年147-1]
- The microbiome is a complex community of Bacteria, Archaea, Eukarya, and viruses that infect humans and live in our tissues. It contributes the majority of genetic information to our metagenome and, consequently, influen...
- Modeling Human Disease in Humans: The Ciliopathies
[作者:Novarino, G; Akizu, N; Gleeson, JG,期刊:Cell, 页码:70-79 , 文章类型: Review,,卷期:2011年147-1]
- Soon, the genetic basis of most human Mendelian diseases will be solved. The next challenge will be to leverage this information to uncover basic mechanisms of disease and develop new therapies. To understand how this tr...
- The Lin28/let-7 Axis Regulates Glucose Metabolism
[作者:Zhu, H; Shyh-Chang, N; Segre, AV; Shinoda, G; Shah, SP; Einhorn, WS; Takeuchi, A; Engreitz, JM; Hagan, JP; Kharas, MG; Urbach, A; Thornton, JE; Triboulet, R; Gregory, RI; Altshuler, D; Daley, GQ,期刊:Cell, 页码:81-94 , 文章类型: Article,,卷期:2011年147-1]
- The let-7 tumor suppressor microRNAs are known for their regulation of oncogenes, while the RNA-binding proteins Lin28a/b promote malignancy by inhibiting let-7 biogenesis. We have uncovered unexpected roles for the Lin2...
- Translocation-Capture Sequencing Reveals the Extent and Nature of Chromosomal Rearrangements in B Lymphocytes
[作者:Klein, IA; Resch, W; Jankovic, M; Oliveira, T; Yamane, A; Nakahashi, H; Di Virgilio, M; Bothmer, A; Nussenzweig, A; Robbiani, DF; Casellas, R; Nussenzweig, MC,期刊:Cell, 页码:95-106 , 文章类型: Article,,卷期:2011年147-1]
- Chromosomal rearrangements, including translocations, require formation and joining of DNA double strand breaks (DSBs). These events disrupt the integrity of the genome and are frequently involved in producing leukemias,...
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