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Iwei Yeh, Thomas Botton, Eric Talevich, A Hunter Shain, Alyssa J Sparatta, Arnaud de la Fouchardiere, Thaddeus W Mully, Jeffrey P North, Maria C Garrido, Alexander Gagnon, Swapna S Vemula, Timothy H McCalmont, Philip E LeBoit, Boris C Bastian
Oncogenic gene fusions have been identified in many cancers and many serve as biomarkers or targets for therapy. Here we identify six different melanocytic tumours with genomic rearrangements of MET fusing the kinase domain of MET in-frame to six different N-terminal partners. These tumours lack activating mutations in other established melanoma oncogenes. We functionally characterize two of the identified fusion proteins (TRIM4-MET and ZKSCAN1-MET) and find that they constitutively activate the mitogen-activated protein kinase (MAPK), phosphoinositol-3 kinase (PI3K) and phospholipase C gamma 1 (PLCĪ³1) pathways...
2015: Nature Communications
Megan K Mulligan, Xusheng Wang, Adrienne L Adler, Khyobeni Mozhui, Lu Lu, Robert W Williams
GABA type-A receptors are essential for fast inhibitory neurotransmission and are critical in brain function. Surprisingly, expression of receptor subunits is highly variable among individuals, but the cause and impact of this fluctuation remains unknown. We have studied sources of variation for all 19 receptor subunits using massive expression data sets collected across multiple brain regions and platforms in mice and humans. Expression of Gabra1, Gabra2, Gabrb2, Gabrb3, and Gabrg2 is highly variable and heritable among the large cohort of BXD strains derived from crosses of fully sequenced parents--C57BL/6J and DBA/2J...
2012: PloS One
Herman van Dekken, Hugo W Tilanus, Wim C J Hop, Winand N M Dinjens, Josiane C Wink, Kees J Vissers, Ronald van Marion
Survival rates of adenocarcinomas of the gastroesophageal junction (GEJ) are low, because these tumors are generally in an advanced stage by the time they are detected. Chromosomal regions 1q32, 7q21, and 8p22 display critical alterations in GEJ cancers; however, the genes underlying alterations in these genomic areas are largely unknown. To delineate overexpressed genes, we performed array comparative genomic hybridization (aCGH) and mRNA expression analysis of 15 GEJ adenocarcinoma samples using a fine-tiling cDNA array covering chromosome segments 1q31...
February 2009: Cancer Genetics and Cytogenetics
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