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Rodrigo A Toledo, Yuejuan Qin, Subramanya Srikantan, Nicole Paes Morales, Qun Li, Yilun Deng, Sang-Woo Kim, Maria Adelaide A Pereira, Sergio P A Toledo, Xiaoping Su, Ricardo C T Aguiar, and Patricia L M Dahia

to function as a tumor suppressor in lung adenocarcinoma and gliomas ( Acker et al . 2005 , Mazumdar et al . 2010 ). Furthermore, germline HIF2A mutations confer susceptibility to familial erythrocytosis, a disorder not typically associated with

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

Dear Editor, Somatic hypoxia-inducible factor 2 alpha ( HIF2A ) mutations are responsible for a newly discovered syndrome of multiple paragangliomas (PGL) and duodenal somatostatinomas associated with polycythemia (Pacak–Zhuang syndrome

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Jenny Welander, Adam Andreasson, Michael Brauckhoff, Martin Bäckdahl, Catharina Larsson, Oliver Gimm, and Peter Söderkvist

predicted four of the six amino acid substitutions to be damaging ( Table 1 ). Table 1 Details for apparently sporadic pheochromocytomas with mutation(s) in EPAS1 /HIF2A Case number Gender Age Malignancy, size Exon Mutation a Present in normal DNA b

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Roland Därr, Joan Nambuba, Jaydira Del Rivero, Ingo Janssen, Maria Merino, Milena Todorovic, Bela Balint, Ivana Jochmanova, Josef T Prchal, Ronald M Lechan, Arthur S Tischler, Vera Popovic, Dragana Miljic, Karen T Adams, F Ryan Prall, Alexander Ling, Meredith R Golomb, Michael Ferguson, Naris Nilubol, Clara C Chen, Emily Chew, David Taïeb, Constantine A Stratakis, Tito Fojo, Chunzhang Yang, Electron Kebebew, Zhengping Zhuang, and Karel Pacak

-mediated degradation, have been associated with secondary polycythemia and multiple PGLs ( Yang et al . 2014 ). Nevertheless, the occurrence of PGL together with polycythemia is rare ( Dionne et al . 2006 ). Somatic mutations in HIF2A ( EPAS1 ), affecting PHD

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Nicole Bechmann, Mats Leif Moskopp, Martin Ullrich, Bruna Calsina, Pål William Wallace, Susan Richter, Markus Friedemann, Katharina Langton, Stephanie M J Fliedner, Henri J L M Timmers, Svenja Nölting, Felix Beuschlein, Martin Fassnacht, Aleksander Prejbisz, Karel Pacak, Hans K Ghayee, Stefan R Bornstein, Peter Dieterich, Jens Pietzsch, Ben Wielockx, Mercedes Robledo, Nan Qin, and Graeme Eisenhofer

downregulation of Reln (Supplementary Fig. 14A). Knockdown in HIF2a in hPheo1 cells revealed in a significant downregulation of LAMB1 and COL4A2 (Supplementary Fig. 14B). Discussion Using a large cohort of patients with PPGLs, we established for

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Eamonn R Maher

, Yao et al . 2010 ). Recently, several groups have demonstrated that oncogenic mutations in HIF2A / EPAS1 leading to HIF2 stabilisation can be implicated in the pathogenesis of pheochromocytomas and paragangliomas ( Zhuang et al . 2012 , Comino

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Rodrigo Almeida Toledo

thus EPAS1 mutations are one of the most frequent genetic defects occurring in PPGLs. Table 1 List of thirty-nine somatic/mosaic mutations occurring in EPAS1/HIF2A gene in PPGLs patients. Patient # Clinical features Mutation type

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Trisha Dwight, Edward Kim, Karine Bastard, Diana E Benn, Graeme Eisenhofer, Susan Richter, Massimo Mannelli, Elena Rapizzi, Aleksander Prejbisz, Mariola Pęczkowska, Karel Pacak, and Roderick Clifton-Bligh

Murat A Cariou B 2014 Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome . Journal of Clinical Endocrinology and Metabolism 99 E369 – E373 . ( https://doi.org/10.1210/jc.2013-2600 ) Chen W Hill H Christie A Kim MS

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James F Powers, Brent Cochran, James D Baleja, Hadley D Sikes, Andrew D Pattison, Xue Zhang, Inna Lomakin, Annette Shepard-Barry, Karel Pacak, Sun Jin Moon, Troy F Langford, Kassi Taylor Stein, Richard W Tothill, Yingbin Ouyang, and Arthur S Tischler

norepinephrine and undetectable epinephrine ( Table 1 ). Transcriptome and immunoblots RS0 xenografts show high expression of canonical cluster 1 markers associated with the Hif2a regulatory network ( Table 2 ) and with hereditary SDHB mutations in the

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Bora E Baysal and Eamonn R Maher

). Missense mutations in VHL , EPAS1 ( HIF2A ), and PHD2 are associated with erythrocytosis. For example, endemic Chuvash polycythemia is caused by certain VHL missense germ line mutations ( Lee & Percy 2011 ). In contrast, SDHX mutations have yet to