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The fine-scale and complex architecture of human copy-number variation.
- G. Perry, A. Ben-Dor, +14 authors C. Lee
- Biology, Medicine
- American journal of human genetics
- 3 March 2008
Despite considerable excitement over the potential functional significance of copy-number variants (CNVs), we still lack knowledge of the fine-scale architecture of the large majority of CNV regions… Expand
The transcriptional landscape and mutational profile of lung adenocarcinoma.
All cancers harbor molecular alterations in their genomes. The transcriptional consequences of these somatic mutations have not yet been comprehensively explored in lung cancer. Here we present the… Expand
Digenome-seq: genome-wide profiling of CRISPR-Cas9 off-target effects in human cells
Although RNA-guided genome editing via the CRISPR-Cas9 system is now widely used in biomedical research, genome-wide target specificities of Cas9 nucleases remain controversial. Here we present… Expand
Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers
Follicular thyroid carcinoma (FTC) and benign follicular adenoma (FA) are indistinguishable by preoperative diagnosis due to their similar histological features. Here we report the first RNA… Expand
Viral Load Kinetics of MERS Coronavirus Infection.
- M. Oh, W. Park, +17 authors Nam Kyung Kim
- The New England journal of medicine
- 28 September 2016
Middle East respiratory syndrome coronavirus continues to circulate in the Middle East. During a recent outbreak in Korea, changes in MERS coronavirus viral load were determined during the course of… Expand
A public resource facilitating clinical use of genomes
- M. Ball, J. Thakuria, +42 authors G. Church
- Medicine, Computer Science
- Proceedings of the National Academy of Sciences
- 13 July 2012
We introduce the Genome-Environment-Trait Evidence (GET-Evidence) system for recording and organizing variant evaluations according to standard evidence guidelines, creating a public forum for reaching consensus on interpretation of clinically relevant variants. Expand
Hypoxic condition- and high cell density-induced expression of Redd1 is regulated by activation of hypoxia-inducible factor-1alpha and Sp1 through the phosphatidylinositol 3-kinase/Akt signaling…
Redd1, a recently discovered stress-response gene, is regulated by hypoxia via hypoxia-inducible factor 1 (HIF-1) and by DNA damage via p53/p63; however, the signaling pathway by which its expression… Expand
The opsonin MFG-E8 is a ligand for the αvβ5 integrin and triggers DOCK180-dependent Rac1 activation for the phagocytosis of apoptotic cells
Abstract Opsonization of apoptotic cells facilitates recognition by phagocytes for the rapid clearance of potentially inflammatory cellular material. The secreted glycoprotein Milk Fat Globule… Expand
p53 induction and activation of DDR1 kinase counteract p53‐mediated apoptosis and influence p53 regulation through a positive feedback loop
DDR1, discoidin domain receptor 1, belongs to a subfamily of tyrosine kinase receptors with an extracellular domain homologous to Dictyostellium discoideum protein discoidin 1. We showed that DDR1 is… Expand
The opsonin MFG-E8 is a ligand for the alphavbeta5 integrin and triggers DOCK180-dependent Rac1 activation for the phagocytosis of apoptotic cells.
Opsonization of apoptotic cells facilitates recognition by phagocytes for the rapid clearance of potentially inflammatory cellular material. The secreted glycoprotein Milk Fat Globule Factor-E8… Expand