Lappin TR - Search Results

1

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. Percy MJ, et al. Among authors: lappin tr. Blood. 2007 Sep 15;110(6):2193-6. doi: 10.1182/blood-2007-04-084434. Epub 2007 Jun 19. Blood. 2007. PMID: 17579185 Free PMC article.

2

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, Lappin TR. Percy MJ, et al. Among authors: lappin tr. Blood. 2003 Aug 1;102(3):1097-9. doi: 10.1182/blood-2002-10-3246. Epub 2003 Apr 17. Blood. 2003. PMID: 12702509 Free article.

3

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.

Percy MJ, Mooney SM, McMullin MF, Flores A, Lappin TR, Lee FS. Percy MJ, et al. Among authors: lappin tr. Mol Cancer. 2003 Sep 9;2:31. doi: 10.1186/1476-4598-2-31. Mol Cancer. 2003. PMID: 14521712 Free PMC article.

4

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.

Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF, Lee FS. Percy MJ, et al. Among authors: lappin tr. Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. doi: 10.1073/pnas.0508423103. Epub 2006 Jan 9. Proc Natl Acad Sci U S A. 2006. PMID: 16407130 Free PMC article.

5

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS. Percy MJ, et al. Among authors: lappin tr. N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123. N Engl J Med. 2008. PMID: 18184961 Free PMC article.

6

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR, McMullin MF, Lee FS. Percy MJ, et al. Among authors: lappin tr. Blood. 2008 Jun 1;111(11):5400-2. doi: 10.1182/blood-2008-02-137703. Epub 2008 Mar 31. Blood. 2008. PMID: 18378852 Free PMC article.

7

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. Arsenault PR, et al. J Biol Chem. 2013 Nov 22;288(47):33571-33584. doi: 10.1074/jbc.M113.482364. Epub 2013 Oct 11. J Biol Chem. 2013. PMID: 24121508 Free PMC article.

8

Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

Percy MJ, Gillespie MJ, Savage G, Hughes AE, McMullin MF, Lappin TR. Percy MJ, et al. Among authors: lappin tr. Blood. 2002 Nov 15;100(10):3447-9. doi: 10.1182/blood-2002-05-1405. Epub 2002 Jul 5. Blood. 2002. PMID: 12393396 Free article.

9

Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.

Lappin TR, Lee FS. Lappin TR, et al. Blood Rev. 2019 Sep;37:100590. doi: 10.1016/j.blre.2019.100590. Epub 2019 Jul 16. Blood Rev. 2019. PMID: 31350093 Free PMC article. Review.

10

Erythrocytosis due to a mutation in the erythropoietin receptor gene.

Percy MJ, McMullin MF, Roques AW, Westwood NB, Acharya J, Hughes AE, Lappin TR, Pearson TC. Percy MJ, et al. Among authors: lappin tr. Br J Haematol. 1998 Feb;100(2):407-10. doi: 10.1046/j.1365-2141.1998.00550.x. Br J Haematol. 1998. PMID: 9488636 Free article.

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