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Items: 15

1.

Prolyl hydroxylase domain enzymes: important regulators of cancer metabolism.

Yang M, Su H, Soga T, Kranc KR, Pollard PJ.

Hypoxia (Auckl). 2014 Aug 30;2:127-142. Review.

2.

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B, Percy MJ, Hoogewijs D, Chowdhury R, Bento C, Arsenault PR, Richard S, Almeida H, Ewing J, Lambert F, McMullin MF, Schofield CJ, Lee FS.

Hypoxia (Auckl). 2014 Jul 1;2:71-90. Review.

3.

Oxygen-dependent Regulation of Erythropoietin Receptor Turnover and Signaling.

Heir P, Srikumar T, Bikopoulos G, Bunda S, Poon BP, Lee JE, Raught B, Ohh M.

J Biol Chem. 2016 Apr 1;291(14):7357-72. doi: 10.1074/jbc.M115.694562.

PMID:
26846855
4.

Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches.

Costa MH, Ortiga-Carvalho TM, Violante AD, Vaisman M.

Front Endocrinol (Lausanne). 2015 Aug 17;6:126. doi: 10.3389/fendo.2015.00126. Review.

5.

Pheochromocytoma and paraganglioma syndromes: genetics and management update.

Lefebvre M, Foulkes WD.

Curr Oncol. 2014 Feb;21(1):e8-e17. doi: 10.3747/co.21.1579.

6.

The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.

Qin Y, Deng Y, Ricketts CJ, Srikantan S, Wang E, Maher ER, Dahia PL.

Hum Mol Genet. 2014 May 1;23(9):2428-39. doi: 10.1093/hmg/ddt638.

7.

The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas.

Andreasson A, Kiss NB, Caramuta S, Sulaiman L, Svahn F, Bäckdahl M, Höög A, Juhlin CC, Larsson C.

Epigenetics. 2013 Dec;8(12):1347-54. doi: 10.4161/epi.26686.

8.

Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.

Jochmanová I, Yang C, Zhuang Z, Pacak K.

J Natl Cancer Inst. 2013 Sep 4;105(17):1270-83. doi: 10.1093/jnci/djt201. Review.

9.

Molecular and therapeutic advances in the diagnosis and management of malignant pheochromocytomas and paragangliomas.

Lowery AJ, Walsh S, McDermott EW, Prichard RS.

Oncologist. 2013;18(4):391-407. doi: 10.1634/theoncologist.2012-0410. Review.

10.

Thermal unfolding pathway of PHD2 catalytic domain in three different PHD2 species: computational approaches.

Hadi-Alijanvand H, Proctor EA, Goliaei B, Dokholyan NV, Moosavi-Movahedi AA.

PLoS One. 2012;7(10):e47061. doi: 10.1371/journal.pone.0047061.

11.

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

Yang C, Matro JC, Huntoon KM, Ye DY, Huynh TT, Fliedner SM, Breza J, Zhuang Z, Pacak K.

FASEB J. 2012 Nov;26(11):4506-16. doi: 10.1096/fj.12-210146.

12.
13.

Head and neck paragangliomas: clinical and molecular genetic classification.

Offergeld C, Brase C, Yaremchuk S, Mader I, Rischke HC, Gläsker S, Schmid KW, Wiech T, Preuss SF, Suárez C, Kopeć T, Patocs A, Wohllk N, Malekpour M, Boedeker CC, Neumann HP.

Clinics (Sao Paulo). 2012;67 Suppl 1:19-28. Review.

14.

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.

Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M, Gimenez-Roqueplo AP, Leporrier M, Casadevall N, Hermine O, Kiladjian JJ, Baruchel A, Fakhoury F, Bressac-de Paillerets B, Feunteun J, Mazure N, Pouysségur J, Wenger RH, Richard S, Gardie B.

Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644.

15.

Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.

Albiero E, Ruggeri M, Fortuna S, Finotto S, Bernardi M, Madeo D, Rodeghiero F.

Haematologica. 2012 Jan;97(1):123-7. doi: 10.3324/haematol.2010.039545.

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