Searching journal content for articles similar to Därr et al. 23 (12): 899.

Displaying results 1-7 of 7
For checked items
  1. ...detected in patients with pheochromocytoma/paraganglioma-polycythemia. Journal of Molecular Medicine 93 93–104. (doi:10.1007/s00109-014-1205-7) Yang C, Hong CS, Prchal JT, Balint MT, Pacak K & Zhuang Z 2015b Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma...
  2. ...also been reported both in association with mutations of another Kreb’s cycle gene, fumarate hydratase (Clark et al. 2014), and mutations of TMEM127 (Qin et al. 2014, Hernandez et al. 2015). A new syndrome of paraganglioma andduodenal somatostatinoma associated with polycythemia Published...
  3. ...2 alpha (HIF2A) mutations are responsible for a newly discovered syndrome of multiple paragangliomas (PGL) and duodenal somatostatinomas associated with polycythemia (Pacak–Zhuang syndrome) (Zhuang et  al. 2012, Pacak et  al. 2013, Toyoda et  al. 2014). In this syndrome, found exclusively in females...
  4. ...with polycythemia and paraganglioma (Lorenzo et al. 2013) which, just like the first mutations identified, was demonstrated to decrease ubiquitination and degradation, thereby increasing the stability of HIF2a. Subsequent studies identified somatic EPAS1 mutations in pheochromocytomas and paragangliomas also...
  5. ...Agnieszka Maliszewska1, Rocı´o Leto´n1, A´lvaro Go´mez Gran˜a1, Carmen Bernal6, 7 1,3 2,8 Correspondence should be addressed to M Robledo Email [email protected] profiles are known to depend on genetic background, a number of questions related to Key Words " pheochromocytoma " paraganglioma " micro...
  6. ...regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genetics 1 72–80. (doi:10.1371/journal.pgen.0010008) Favier J, Buffet A & Gimenez-Roqueplo AP 2012 HIF2A mutations in paraganglioma with polycythemia. New England Journal of Medicine 367 2161 (author reply 2161–2162). (doi:10...
  7. ..., Rahimpour S, Prchal JT, Lechan R, Lonser R, Pacak K & Zhuang Z 2013 Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Blood 121 2563–2566. (doi:10.1182/ blood-2012-10-460972) Yao L, Barontini M, Niederle B, Jech M, Pfragner R & Dahia PL 2010...
For checked items