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Items: 17

1.

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal JT.

Haematologica. 2019 Jul 9. pii: haematol.2019.216267. doi: 10.3324/haematol.2019.216267. [Epub ahead of print]

2.

Iron down-regulates leptin by suppressing protein O-GlcNAc modification in adipocytes, resulting in decreased levels of O-glycosylated CREB.

Gao Y, Liu J, Bai Z, Sink S, Zhao C, Lorenzo FR, McClain DA.

J Biol Chem. 2019 Apr 5;294(14):5487-5495. doi: 10.1074/jbc.RA118.005183. Epub 2019 Feb 1.

PMID:
30709903
3.

Adipose Tissue Transferrin and Insulin Resistance.

McClain DA, Sharma NK, Jain S, Harrison A, Salaye LN, Comeau ME, Langefeld CD, Lorenzo FR, Das SK.

J Clin Endocrinol Metab. 2018 Nov 1;103(11):4197-4208. doi: 10.1210/jc.2018-00770.

PMID:
30099506
4.

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD.

PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr.

5.

A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population.

Downie JM, Tashi T, Lorenzo FR, Feusier JE, Mir H, Prchal JT, Jorde LB, Koul PA.

PLoS One. 2016 Aug 4;11(8):e0160614. doi: 10.1371/journal.pone.0160614. eCollection 2016.

6.

A genetic mechanism for Tibetan high-altitude adaptation.

Lorenzo FR, Huff C, Myllymäki M, Olenchock B, Swierczek S, Tashi T, Gordeuk V, Wuren T, Ri-Li G, McClain DA, Khan TM, Koul PA, Guchhait P, Salama ME, Xing J, Semenza GL, Liberzon E, Wilson A, Simonson TS, Jorde LB, Kaelin WG Jr, Koivunen P, Prchal JT.

Nat Genet. 2014 Sep;46(9):951-6. doi: 10.1038/ng.3067. Epub 2014 Aug 17.

7.

Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome.

Pacak K, Chew EY, Pappo AS, Yang C, Lorenzo FR, Wilson MW, Aronow MB, Young JA, Popovic V, Zhuang Z.

Ophthalmology. 2014 Nov;121(11):2291-3. doi: 10.1016/j.ophtha.2014.06.019. Epub 2014 Aug 8. No abstract available.

8.

High altitude genetic adaptation in Tibetans: no role of increased hemoglobin-oxygen affinity.

Tashi T, Feng T, Koul P, Amaru R, Hussey D, Lorenzo FR, RiLi G, Prchal JT.

Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):27-9. doi: 10.1016/j.bcmd.2014.02.003. Epub 2014 Mar 4.

9.

Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.

Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT.

Haematologica. 2013 Dec;98(12):1972-9. doi: 10.3324/haematol.2013.086629. Epub 2013 Sep 27.

10.

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

Lorenzo FR, Yang C, Lanikova L, Butros L, Zhuang Z, Prchal JT.

Br J Haematol. 2013 Sep;162(6):851-3. doi: 10.1111/bjh.12431. Epub 2013 Jun 17. No abstract available.

11.

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.

J Mol Med (Berl). 2013 Apr;91(4):507-12. doi: 10.1007/s00109-012-0967-z. Epub 2012 Oct 23.

12.

Molecular basis of two novel mutations found in type I methemoglobinemia.

Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT.

Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi: 10.1016/j.bcmd.2011.01.005. Epub 2011 Feb 24.

13.

Genetic evidence for high-altitude adaptation in Tibet.

Simonson TS, Yang Y, Huff CD, Yun H, Qin G, Witherspoon DJ, Bai Z, Lorenzo FR, Xing J, Jorde LB, Prchal JT, Ge R.

Science. 2010 Jul 2;329(5987):72-5. doi: 10.1126/science.1189406. Epub 2010 May 13.

14.

Mutational events during the primary propagation and consecutive passages of hepatitis E virus strain JE03-1760F in cell culture.

Lorenzo FR, Tanaka T, Takahashi H, Ichiyama K, Hoshino Y, Yamada K, Inoue J, Takahashi M, Okamoto H.

Virus Res. 2008 Oct;137(1):86-96. doi: 10.1016/j.virusres.2008.06.005. Epub 2008 Jul 26.

PMID:
18620009
15.

Analysis of the full-length genome of hepatitis E virus isolates obtained from farm pigs in Mongolia.

Lorenzo FR, Tsatsralt-Od B, Ganbat S, Takahashi M, Okamoto H.

J Med Virol. 2007 Aug;79(8):1128-37.

PMID:
17597486
16.

Prevalence of hepatitis B, C, and delta virus infections among children in Mongolia: progress in childhood immunization.

Tsatsralt-Od B, Takahashi M, Endo K, Agiimaa D, Buyankhuu O, Ninomiya M, Lorenzo FR, Okamoto H.

J Med Virol. 2007 Aug;79(8):1064-74.

PMID:
17596839
17.

Identification and genomic characterization of a novel human torque teno virus of 3.2 kb.

Ninomiya M, Nishizawa T, Takahashi M, Lorenzo FR, Shimosegawa T, Okamoto H.

J Gen Virol. 2007 Jul;88(Pt 7):1939-44.

PMID:
17554026

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