Search Results

You are looking at 91 - 100 of 185 items for :

  • hereditary pheochromocytoma x
  • Refine by Access: All content x
Clear All
Free access

Zhengping Zhuang, Chunzhang Yang, Ales Ryska, Yuan Ji, Yingyong Hou, Sky D Graybill, Petra Bullova, Irina A Lubensky, Günter Klöppel, and Karel Pacak

the pathogenesis of cancer. This notion was nicely presented in a study of Toledo et al ., where HIF2α mutants in HEK293, renal cell carcinoma 786-0, or rat pheochromocytoma PC12 cell lines, showed increased stability, resistance to VHL

Free access

Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, Ajith V Kumar, William M Drake, Donato Iacovazzo, Kassiani Skordilis, Daniel Berney, Ma’en Al-Mrayat, Bernard Khoo, and Scott A Akker

/ddq206 ) Burnichon N Cascon A Schiavi F Morales NP Comino-Mendez I Abermil N Inglada-Perez L de Cubas AA Amar L Barontini M 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma

Restricted access

Kimberly Perez, Heather Jacene, Jason L Hornick, Chao Ma, Nuno Vaz, Lauren K Brais, Holly Alexander, William Baddoo, Kristina Astone, Edward D Esplin, John Garcia, Daniel M Halperin, Matthew H Kulke, and Jennifer A Chan

Background Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors (NETs) that share a neural crest origin and are histologically indistinguishable. PHEOs account for 90% of cases and arise in the adrenal medulla

Open access

Paul Benjamin Loughrey, Federico Roncaroli, Estelle Healy, Philip Weir, Madhu Basetti, Ruth T Casey, Steven J Hunter, and Márta Korbonits

N Inglada-Pérez L de Cubas AA Amar L Barontini M 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma . Clinical Cancer Research 18 2828 – 2837 . ( ) Burnichon

Free access

Esther Korpershoek, Nanne K Kloosterhof, Angelique Ziel-van der Made, Hanneke Korsten, Lindsey Oudijk, Jan Trapman, Winand N M Dinjens, and Ronald R de Krijger

cause of hereditary pheochromocytoma . Nature Genetics 43 663 – 667 . ( doi:10.1038/ng.861 ). Chung YJ Jonkers J Kitson H Fiegler H Humphray S Scott C Hunt S Yu Y Nishijima I Velds A 2004 A whole-genome mouse BAC

Free access

Arthur Varoquaux, Electron Kebebew, Fréderic Sebag, Katherine Wolf, Jean-François Henry, Karel Pacak, and David Taïeb

paraganglia sites. They can occur as sporadic or hereditary tumors, with the latter accounting for at least 40% of cases. Of all known genetic mutations, those in the succinate dehydrogenase ( SDHx ) complex subunit D ( SDHD ) gene are currently the leading

Free access

E Kim, E M Rath, V H M Tsang, A P Duff, B G Robinson, W B Church, D E Benn, T Dwight, and R J Clifton-Bligh

– 4774 . ( doi:10.1210/jc.2002-020525 ). Gimenez-Roqueplo AP Dahia PL Robledo M 2012 An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes . Hormone and Metabolic Research 44 328 – 333 . ( doi:10

Free access

Margo Dona, Selma Waaijers, Susan Richter, Graeme Eisenhofer, Jeroen Korving, Sarah M Kamel, Jeroen Bakkers, Elena Rapizzi, Richard J Rodenburg, Jan Zethof, Marnix Gorissen, Gert Flik, Peter M T Deen, and Henri J L M Timmers

of a heterozygous SDH mutation are at risk of developing pheochromocytomas and paragangliomas (PPGLs), although usually a second hit in the form of a somatic mutation in the unaffected SDHB allele is required for the development of PPGLs. PPGLs

Free access

Elena Rapizzi, Rossella Fucci, Elisa Giannoni, Letizia Canu, Susan Richter, Paolo Cirri, and Massimo Mannelli

metabolism. In this scenario, the relevance of mitochondria as central metabolic organelles that play a pivotal role in cell biochemical functions is once again in vogue. A clear example can be found in some tumors, like pheochromocytomas (PHEO) and

Free access

P N Span, J U Rao, S B J Oude Ophuis, J W M Lenders, F C G J Sweep, P Wesseling, B Kusters, F H van Nederveen, R R de Krijger, A R M M Hermus, and H J L M Timmers

Introduction Paragangliomas (PGLs) are catecholamine-producing tumors that originate from chromaffin cells of the adrenal medulla (pheochromocytoma proper) or from sympathetic neuronal tissue in extra-adrenal locations of the abdomen or chest