Literature DB >> 27130043

HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma.

Zhengping Zhuang1, Chunzhang Yang2, Ales Ryska3, Yuan Ji4, Yingyong Hou4, Sky D Graybill5, Petra Bullova6, Irina A Lubensky7, Günter Klöppel8, Karel Pacak9.   

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Year:  2016        PMID： 27130043      PMCID： PMC4899235          DOI： 10.1530/ERC-16-0148

Source DB:  PubMed          Journal:  Endocr Relat Cancer        ISSN： 1351-0088            Impact factor:   5.678


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  10 in total

1.  Duodenal gangliocytic paraganglioma. An immunohistochemical and ultrastructural study and a hypothesis concerning its origin.

Authors:  T Perrone; R K Sibley; J Rosai
Journal:  Am J Surg Pathol       Date:  1985-01       Impact factor: 6.394

2.  Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Authors:  Iñaki Comino-Méndez; Aguirre A de Cubas; Carmen Bernal; Cristina Álvarez-Escolá; Carolina Sánchez-Malo; César L Ramírez-Tortosa; Susana Pedrinaci; Elena Rapizzi; Tonino Ercolino; Giampaolo Bernini; Alessandra Bacca; Rocío Letón; Guillermoó Pita; María R Alonso; Luis J Leandro-García; Alvaro Gómez-Graña; Lucía Inglada-Pérez; Veronika Mancikova; Cristina Rodríguez-Antona; Massimo Mannelli; Mercedes Robledo; Alberto Cascón
Journal:  Hum Mol Genet       Date:  2013-02-14       Impact factor: 6.150

3.  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

4.  Neuroendocrine tumours of the duodenum. Clinical aspects, pathomorphology and therapy.

Authors:  Helmut Witzigmann; Clemens Loracher; Felix Geissler; Theodor Wagner; Andrea Tannapfel; Dirk Uhlmann; Karel Caca; Johann Hauss; John Adolf Hehl
Journal:  Langenbecks Arch Surg       Date:  2001-11-06       Impact factor: 3.445

5.  Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.

Authors:  Hidemi Toyoda; Jyunya Hirayama; Yuka Sugimoto; Keiichi Uchida; Kohshi Ohishi; Masahiro Hirayama; Yoshihiro Komada
Journal:  Pediatrics       Date:  2014-05-12       Impact factor: 7.124

6.  In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

Authors:  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; Patricia L M Dahia
Journal:  Endocr Relat Cancer       Date:  2013-05-21       Impact factor: 5.678

7.  The approach to the patient with paraganglioma.

Authors:  Hartmut P H Neumann; Charis Eng
Journal:  J Clin Endocrinol Metab       Date:  2009-08       Impact factor: 5.958

8.  New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Authors:  Karel Pacak; Ivana Jochmanova; Tamara Prodanov; Chunzhang Yang; Maria J Merino; Tito Fojo; Josef T Prchal; Arthur S Tischler; Ronald M Lechan; Zhengping Zhuang
Journal:  J Clin Oncol       Date:  2013-03-18       Impact factor: 44.544

9.  HIF-2alpha maintains an undifferentiated state in neural crest-like human neuroblastoma tumor-initiating cells.

Authors:  Alexander Pietras; Loen M Hansford; A Sofie Johnsson; Esther Bridges; Jonas Sjölund; David Gisselsson; Matilda Rehn; Siv Beckman; Rosa Noguera; Samuel Navarro; Jörg Cammenga; Erik Fredlund; David R Kaplan; Sven Påhlman
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-16       Impact factor: 11.205

10.  A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.

Authors:  Patricia L M Dahia; Ken N Ross; Matthew E Wright; César Y Hayashida; Sandro Santagata; Marta Barontini; Andrew L Kung; Gabriela Sanso; James F Powers; Arthur S Tischler; Richard Hodin; Shannon Heitritter; Francis Moore; Robert Dluhy; Julie Ann Sosa; I Tolgay Ocal; Diana E Benn; Deborah J Marsh; Bruce G Robinson; Katherine Schneider; Judy Garber; Seth M Arum; Márta Korbonits; Ashley Grossman; Pascal Pigny; Sérgio P A Toledo; Vania Nosé; Cheng Li; Charles D Stiles
Journal:  PLoS Genet       Date:  2005-07-25       Impact factor: 5.917
  10 in total
  8 in total

1.  Gangliocytic Paraganglioma: a Diagnostic Pitfall of Rare Neuroendocrine Tumor.

Authors:  Yoichiro Okubo
Journal:  Endocr Pathol       Date:  2017-06       Impact factor: 3.943

2.  USP33 deubiquitinates and stabilizes HIF-2alpha to promote hypoxia response in glioma stem cells.

Authors:  Aili Zhang; Zhi Huang; Weiwei Tao; Kui Zhai; Qiulian Wu; Jeremy N Rich; Wenchao Zhou; Shideng Bao
Journal:  EMBO J       Date:  2022-02-22       Impact factor: 11.598

3.  Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Authors:  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; Karel Pacak
Journal:  Endocr Relat Cancer       Date:  2016-09-27       Impact factor: 5.678

4.  HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.

Authors:  Daniel Tarade; Claire M Robinson; Jeffrey E Lee; Michael Ohh
Journal:  Nat Commun       Date:  2018-08-22       Impact factor: 14.919

Review 5.  Targeting HIF-2α in the Tumor Microenvironment: Redefining the Role of HIF-2α for Solid Cancer Therapy.

Authors:  Leah Davis; Matthias Recktenwald; Evan Hutt; Schuyler Fuller; Madison Briggs; Arnav Goel; Nichole Daringer
Journal:  Cancers (Basel)       Date:  2022-02-28       Impact factor: 6.639

6.  Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster.

Authors:  Stephanie M J Fliedner; Uma Shankavaram; Geena Marzouca; Abdel Elkahloun; Ivana Jochmanova; Roland Daerr; W Marston Linehan; Henri Timmers; Arthur S Tischler; Konstantinos Papaspyrou; Jürgen Brieger; Ronald de Krijger; Jan Breza; Graeme Eisenhofer; Zhengping Zhuang; Hendrik Lehnert; Karel Pacak
Journal:  Neoplasia       Date:  2016-09       Impact factor: 5.715

Review 7.  A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Authors:  Bernardo Dias Pereira; Tiago Nunes da Silva; Ana Teresa Bernardo; Rui César; Henrique Vara Luiz; Karel Pacak; Luísa Mota-Vieira
Journal:  Int J Endocrinol       Date:  2018-03-20       Impact factor: 3.257

8.  Diagnosis, Pathological Findings, and Clinical Management of Gangliocytic Paraganglioma: A Systematic Review.

Authors:  Yoichiro Okubo; Emi Yoshioka; Masaki Suzuki; Kota Washimi; Kae Kawachi; Yoichi Kameda; Tomoyuki Yokose
Journal:  Front Oncol       Date:  2018-07-27       Impact factor: 6.244
  8 in total

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