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The prognostic role of intragenic copy number breakpoints and identification of...
Carvalho, Diana; Mackay, Alan; Bjerke, Lynn; Grundy, Richard G.; Lopes, Celeste; Reis, R. M.; Jones, ChrisBACKGROUND: Paediatric high grade glioma (pHGG) is a distinct biological entity to histologically similar tumours arising in older adults, and has differing copy number profiles and driver genetic alterations. As functionally important intragenic copy number aberrations (iCNA) and fusion genes begin to be identified in adult HGG, the same has not yet been done in the childhood setting. We applied an iCNA algori...
Loss of WNK2 expression by promoter gene methylation occurs in adult gliomas an...
Moniz, Sónia; Martinho, Olga; Pinto, Filipe; Sousa, Bárbara; Loureiro, Claúdia; Oliveira, Maria José; Moita, Luis Ferreira; Honavar, MrinaliniThe gene encoding protein kinase WNK2 was recently identified to be silenced by promoter hypermethylation in gliomas and meningiomas, suggesting a tumour-suppressor role in these brain tumours. Following experimental depletion in cell lines, WNK2 was further found to control GTP-loading of Rac1, a signalling guanosine triphosphatase involved in cell migration and motility. Here we show that WNK2 promoter methyl...
Microsatellite instability in pediatric high grade glioma is associated with ge...
Pereira, Marta Viana; Lee, Alicia; Popov, Sergey; Bax, Dorine A.; Al-Sarraj, Safa; Bridges, Leslie R.; Stávale, João N.; Jones, Chris; Reis, R. M.The authors would like to thank Dr. Steve Jackson's Laboratory at the University of Cambridge for the MRE11 antibody and Dr. Sandra Costa from ICVS, University of Minho, for the disease-free controls DNA ; High grade gliomas (HGG) are one of the leading causes of cancer-related deaths in children, and there is increasing evidence that pediatric HGG may harbor distinct molecular characteristics compared to adul...
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