Prchal JT - Search Results

1

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

Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, Popovic V, Stratakis CA, Prchal JT, Pacak K. Zhuang Z, et al. Among authors: prchal jt. N Engl J Med. 2012 Sep 6;367(10):922-30. doi: 10.1056/NEJMoa1205119. N Engl J Med. 2012. PMID: 22931260 Free PMC article.

2

Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Yang C, Hong CS, Prchal JT, Balint MT, Pacak K, Zhuang Z. Yang C, et al. Among authors: prchal jt. Hum Genome Var. 2015 Dec 10;2:15053. doi: 10.1038/hgv.2015.53. eCollection 2015. Hum Genome Var. 2015. PMID: 27081557 Free PMC article.

3

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Därr R, Nambuba J, Del Rivero J, Janssen I, Merino M, Todorovic M, Balint B, Jochmanova I, Prchal JT, Lechan RM, Tischler AS, Popovic V, Miljic D, Adams KT, Prall FR, Ling A, Golomb MR, Ferguson M, Nilubol N, Chen CC, Chew E, Taïeb D, Stratakis CA, Fojo T, Yang C, Kebebew E, Zhuang Z, Pacak K. Därr R, et al. Among authors: prchal jt. Endocr Relat Cancer. 2016 Dec;23(12):899-908. doi: 10.1530/ERC-16-0231. Epub 2016 Sep 27. Endocr Relat Cancer. 2016. PMID: 27679736 Free PMC article.

4

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

Yang C, Sun MG, Matro J, Huynh TT, Rahimpour S, Prchal JT, Lechan R, Lonser R, Pacak K, Zhuang Z. Yang C, et al. Among authors: prchal jt. Blood. 2013 Mar 28;121(13):2563-6. doi: 10.1182/blood-2012-10-460972. Epub 2013 Jan 29. Blood. 2013. PMID: 23361906 Free PMC article.

5

New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Pacak K, Jochmanova I, Prodanov T, Yang C, Merino MJ, Fojo T, Prchal JT, Tischler AS, Lechan RM, Zhuang Z. Pacak K, et al. Among authors: prchal jt. J Clin Oncol. 2013 May 1;31(13):1690-8. doi: 10.1200/JCO.2012.47.1912. Epub 2013 Mar 18. J Clin Oncol. 2013. PMID: 23509317 Free PMC article.

6

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, Grossmann M, Pacak K, Prchal JT. Lorenzo FR, et al. Among authors: prchal jt. J Mol Med (Berl). 2013 Apr;91(4):507-12. doi: 10.1007/s00109-012-0967-z. Epub 2012 Oct 23. J Mol Med (Berl). 2013. PMID: 23090011 Free PMC article.

7

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Lanikova L, Lorenzo F, Yang C, Vankayalapati H, Drachtman R, Divoky V, Prchal JT. Lanikova L, et al. Among authors: prchal jt. Blood. 2013 May 9;121(19):3918-24. doi: 10.1182/blood-2012-11-469296. Epub 2013 Mar 28. Blood. 2013. PMID: 23538339 Free PMC article.

8

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.

Tashi T, Scott Reading N, Wuren T, Zhang X, Moore LG, Hu H, Tang F, Shestakova A, Lorenzo F, Burjanivova T, Koul P, Guchhait P, Wittwer CT, Julian CG, Shah B, Huff CD, Gordeuk VR, Prchal JT, Ge R. Tashi T, et al. Among authors: prchal jt. J Mol Med (Berl). 2017 Jun;95(6):665-670. doi: 10.1007/s00109-017-1519-3. Epub 2017 Feb 23. J Mol Med (Berl). 2017. PMID: 28233034

9

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

Lorenzo FR, Yang C, Lanikova L, Butros L, Zhuang Z, Prchal JT. Lorenzo FR, et al. Among authors: prchal jt. Br J Haematol. 2013 Sep;162(6):851-3. doi: 10.1111/bjh.12431. Epub 2013 Jun 17. Br J Haematol. 2013. PMID: 23772956 Free PMC article. No abstract available.

10

RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.

Kapralova K, Lanikova L, Lorenzo F, Song J, Horvathova M, Divoky V, Prchal JT. Kapralova K, et al. Among authors: prchal jt. Blood. 2014 Jan 16;123(3):391-4. doi: 10.1182/blood-2013-10-534222. Epub 2013 Dec 2. Blood. 2014. PMID: 24297870 Free PMC article.

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