Literature DB >> 35489703

Somatic Mosaicism of EPAS1 Mutations in Pacak-Zhuang Syndrome.

Herui Wang1, Zhengping Zhuang1, Jared S Rosenblum1, Karel Pacak2.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35489703      PMCID： PMC9271630          DOI： 10.1016/j.eprac.2022.04.012

Source DB:  PubMed          Journal:  Endocr Pract        ISSN： 1530-891X            Impact factor:   3.701


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  3 in total

1.  Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.

Authors:  Zhengping Zhuang; Chunzhang Yang; Felipe Lorenzo; Maria Merino; Tito Fojo; Electron Kebebew; Vera Popovic; Constantine A Stratakis; Josef T Prchal; Karel Pacak
Journal:  N Engl J Med       Date:  2012-09-06       Impact factor: 91.245

2.  Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.

Authors:  Junne Kamihara; Kayla V Hamilton; Jessica A Pollard; Catherine M Clinton; Jill A Madden; Jasmine Lin; Alma Imamovic; Catherine B Wall; Ari J Wassner; Brent R Weil; Matthew M Heeney; Sara O Vargas; William G Kaelin; Katherine A Janeway; Rodolfo F Perini; Naseem J Zojwalla; Stephan D Voss; Steven G DuBois
Journal:  N Engl J Med       Date:  2021-11-25       Impact factor: 176.079

3.  Developmental vascular malformations in EPAS1 gain-of-function syndrome.

Authors:  Jared S Rosenblum; Herui Wang; Pauline M Dmitriev; Anthony J Cappadona; Panagiotis Mastorakos; Chen Xu; Abhishek Jha; Nancy Edwards; Danielle R Donahue; Jeeva Munasinghe; Matthew A Nazari; Russell H Knutsen; Bruce R Rosenblum; James G Smirniotopoulos; Alberto Pappo; Robert F Spetzler; Alexander Vortmeyer; Mark R Gilbert; Dorian B McGavern; Emily Chew; Beth A Kozel; John D Heiss; Zhengping Zhuang; Karel Pacak
Journal:  JCI Insight       Date:  2021-03-08
  3 in total

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