Literature DB >> 29601261

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease.

Anand Vaidya1, Shahida K Flores2, Zi-Ming Cheng2, Marlo Nicolas2, Yilun Deng2, Alexander R Opotowsky3, Delmar M Lourenço4, Justine A Barletta1, Huma Q Rana5, M Adelaide Pereira4, Rodrigo A Toledo6, Patricia L M Dahia7.   

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Year:  2018        PMID： 29601261      PMCID： PMC5972530          DOI： 10.1056/NEJMc1716652

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  Pheochromocytoma and paraganglioma in cyanotic congenital heart disease.

Authors:  Alexander R Opotowsky; Lilamarie E Moko; Jonathan Ginns; Marlon Rosenbaum; Matthias Greutmann; Jamil Aboulhosn; Abbie Hageman; Yuli Kim; Lisa X Deng; Jasmine Grewal; Ali N Zaidi; Ghadeera Almansoori; Erwin Oechslin; Michael Earing; Michael J Landzberg; Michael N Singh; Fred Wu; Anand Vaidya
Journal:  J Clin Endocrinol Metab       Date:  2015-01-12       Impact factor: 5.958

Review 2.  Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity.

Authors:  Patricia L M Dahia
Journal:  Nat Rev Cancer       Date:  2014-01-20       Impact factor: 60.716

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.  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

5.  Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

Authors:  Kristin Astrom; Joel E Cohen; Joan E Willett-Brozick; Christopher E Aston; Bora E Baysal
Journal:  Hum Genet       Date:  2003-06-17       Impact factor: 4.132
  5 in total
  15 in total

1.  ISL1 loss-of-function mutation contributes to congenital heart defects.

Authors:  Lan Ma; Juan Wang; Li Li; Qi Qiao; Ruo-Min Di; Xiu-Mei Li; Ying-Jia Xu; Min Zhang; Ruo-Gu Li; Xing-Biao Qiu; Xun Li; Yi-Qing Yang
Journal:  Heart Vessels       Date:  2018-11-02       Impact factor: 2.037

2.  Differential HIF2α Protein Expression in Human Carotid Body and Adrenal Medulla under Physiologic and Tumorigenic Conditions.

Authors:  Lucía Celada; Tamara Cubiella; Jaime San-Juan-Guardado; Andrés San José Martínez; Nuria Valdés; Paula Jiménez-Fonseca; Ignacio Díaz; Jose María Enguita; Aurora Astudillo; Enol Álvarez-González; Luisa María Sierra; María-Dolores Chiara
Journal:  Cancers (Basel)       Date:  2022-06-17       Impact factor: 6.575

Review 3.  Special situations in pheochromocytomas and paragangliomas: pregnancy, metastatic disease, and cyanotic congenital heart diseases.

Authors:  Marta Araujo-Castro; Lía Nattero Chavez; Alberto Martínez Lorca; Javier Molina-Cerrillo; Teresa Alonso-Gordoa; Eider Pascual-Corrales
Journal:  Clin Exp Med       Date:  2021-09-30       Impact factor: 5.057

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.  Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease.

Authors:  Swashti Agarwal; Ishita Jindal; Andrea Balazs; David Paul
Journal:  J Endocr Soc       Date:  2019-09-05

6.  Anaesthetic management of a large paraganglioma resection in a woman with isolated L-looped transposition of the great arteries: a case report.

Authors:  Ling Lan; Penghao Liu; Yuan Tian; Bo Zhu; Le Shen; Yuguang Huang
Journal:  BMC Anesthesiol       Date:  2020-04-06       Impact factor: 2.217

7.  High Prevalence and Early Occurrence of Skeletal Complications in EGFR Mutated NSCLC Patients With Bone Metastases.

Authors:  Marta Laganà; Cristina Gurizzan; Elisa Roca; Diego Cortinovis; Diego Signorelli; Filippo Pagani; Anna Bettini; Lucia Bonomi; Silvia Rinaldi; Rossana Berardi; Marco Filetti; Raffaele Giusti; Sara Pilotto; Michele Milella; Salvatore Intagliata; Alice Baggi; Alessio Cortellini; Hector Soto Parra; Matteo Brighenti; Fausto Petrelli; Chiara Bennati; Paolo Bidoli; Marina Chiara Garassino; Alfredo Berruti
Journal:  Front Oncol       Date:  2020-11-12       Impact factor: 6.244

8.  Functional significance of germline EPAS1 variants.

Authors:  Trisha Dwight; Edward Kim; Karine Bastard; Diana E Benn; Graeme Eisenhofer; Susan Richter; Massimo Mannelli; Elena Rapizzi; Aleksander Prejbisz; Mariola Pęczkowska; Karel Pacak; Roderick Clifton-Bligh
Journal:  Endocr Relat Cancer       Date:  2021-02       Impact factor: 5.678

Review 9.  New insights on the pathogenesis of paraganglioma and pheochromocytoma.

Authors:  Vitaly Kantorovich; Karel Pacak
Journal:  F1000Res       Date:  2018-09-20

10.  Pheochromocytoma in Congenital Cyanotic Heart Disease.

Authors:  Carmen Aresta; Gianfranco Butera; Antonietta Tufano; Giorgia Grassi; Livio Luzi; Stefano Benedini
Journal:  Case Rep Endocrinol       Date:  2018-09-25
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