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244 related items for PubMed ID: 24121508

  • 1. A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism.
    Arsenault PR, Pei F, Lee R, Kerestes H, Percy MJ, Keith B, Simon MC, Lappin TRJ, Khurana TS, Lee FS.
    J Biol Chem; 2013 Nov 22; 288(47):33571-33584. PubMed ID: 24121508
    [Abstract] [Full Text] [Related]

  • 2. Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.
    Tan Q, Kerestes H, Percy MJ, Pietrofesa R, Chen L, Khurana TS, Christofidou-Solomidou M, Lappin TR, Lee FS.
    J Biol Chem; 2013 Jun 14; 288(24):17134-44. PubMed ID: 23640890
    [Abstract] [Full Text] [Related]

  • 3. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
    Percy MJ, Furlow PW, Beer PA, Lappin TR, McMullin MF, Lee FS.
    Blood; 2007 Sep 15; 110(6):2193-6. PubMed ID: 17579185
    [Abstract] [Full Text] [Related]

  • 4. 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 Sep 15; 2():71-90. PubMed ID: 27774468
    [Abstract] [Full Text] [Related]

  • 5. The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-α.
    Song D, Peng K, Palmer BE, Lee FS.
    EMBO J; 2022 Nov 17; 41(22):e112059. PubMed ID: 36219563
    [Abstract] [Full Text] [Related]

  • 6. Notch Downregulation and Extramedullary Erythrocytosis in Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2-Deficient Mice.
    Myllymäki MNM, Määttä J, Dimova EY, Izzi V, Väisänen T, Myllyharju J, Koivunen P, Serpi R.
    Mol Cell Biol; 2017 Jan 15; 37(2):. PubMed ID: 27821476
    [Abstract] [Full Text] [Related]

  • 7. Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene.
    Moore JA, Hubbi ME, Wang C, Wang Y, Luo W, Hofmann S, Rambally S.
    J Investig Med High Impact Case Rep; 2020 Jan 15; 8():2324709620947256. PubMed ID: 32755251
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 97(1):123-7. PubMed ID: 21828119
    [Abstract] [Full Text] [Related]

  • 9. Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
    Lappin TR, Lee FS.
    Blood Rev; 2019 Sep 15; 37():100590. PubMed ID: 31350093
    [Abstract] [Full Text] [Related]

  • 10. Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans.
    Minervini G, Quaglia F, Tosatto SC.
    Sci Rep; 2016 Jan 12; 6():18716. PubMed ID: 26754054
    [Abstract] [Full Text] [Related]

  • 11. Identification of Small-Molecule PHD2 Zinc Finger Inhibitors that Activate Hypoxia Inducible Factor.
    Arsenault PR, Song D, Bergkamp M, Ravaschiere AM, Navalsky BE, Lieberman PM, Lee FS.
    Chembiochem; 2016 Dec 14; 17(24):2316-2323. PubMed ID: 27770548
    [Abstract] [Full Text] [Related]

  • 12. Erythrocytosis associated with a novel missense mutation in the HIF2A gene.
    van Wijk R, Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, Lee FS.
    Haematologica; 2010 May 14; 95(5):829-32. PubMed ID: 20007141
    [Abstract] [Full Text] [Related]

  • 13. Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.
    Al-Sheikh M, Moradkhani K, Lopez M, Wajcman H, Préhu C.
    Blood Cells Mol Dis; 2008 May 14; 40(2):160-5. PubMed ID: 17933562
    [Abstract] [Full Text] [Related]

  • 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 14; 97(1):9-14. PubMed ID: 21933857
    [Abstract] [Full Text] [Related]

  • 15. Integrity of the prolyl hydroxylase domain protein 2:erythropoietin pathway in aging mice.
    Li X, Sutherland S, Takeda K, Fong GH, Lee FS.
    Blood Cells Mol Dis; 2010 Jun 15; 45(1):9-19. PubMed ID: 20400342
    [Abstract] [Full Text] [Related]

  • 16. HIF-1α is a protective factor in conditional PHD2-deficient mice suffering from severe HIF-2α-induced excessive erythropoiesis.
    Franke K, Kalucka J, Mamlouk S, Singh RP, Muschter A, Weidemann A, Iyengar V, Jahn S, Wieczorek K, Geiger K, Muders M, Sykes AM, Poitz DM, Ripich T, Otto T, Bergmann S, Breier G, Baretton G, Fong GH, Greaves DR, Bornstein S, Chavakis T, Fandrey J, Gassmann M, Wielockx B.
    Blood; 2013 Feb 21; 121(8):1436-45. PubMed ID: 23264599
    [Abstract] [Full Text] [Related]

  • 17. Oxygen sensing: recent insights from idiopathic erythrocytosis.
    Lee FS, Percy MJ, McMullin MF.
    Cell Cycle; 2006 May 21; 5(9):941-5. PubMed ID: 16687917
    [Abstract] [Full Text] [Related]

  • 18. PHD2 mutation and congenital erythrocytosis with paraganglioma.
    Ladroue C, Carcenac R, Leporrier M, Gad S, Le Hello C, Galateau-Salle F, Feunteun J, Pouysségur J, Richard S, Gardie B.
    N Engl J Med; 2008 Dec 18; 359(25):2685-92. PubMed ID: 19092153
    [Abstract] [Full Text] [Related]

  • 19. Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
    Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR, Lee FS.
    J Biol Chem; 2009 Apr 03; 284(14):9050-8. PubMed ID: 19208626
    [Abstract] [Full Text] [Related]

  • 20. Cardiopulmonary phenotype associated with human PHD2 mutation.
    Talbot NP, Smith TG, Balanos GM, Dorrington KL, Maxwell PH, Robbins PA.
    Physiol Rep; 2017 Apr 03; 5(7):. PubMed ID: 28400504
    [Abstract] [Full Text] [Related]

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