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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB, Rom O, Surakka I, Graham SE, Zhou W, Roychowdhury T, Fritsche LG, Gagliano Taliun SA, Sidore C, Liu Y, Gabrielsen ME, Skogholt AH, Wolford B, Overton W, Zhao Y, Chen J, Zhang H, Hornsby WE, Acheampong A, Grooms A, Schaefer A, Zajac GJM, Villacorta L, Zhang J, Brumpton B, Løset M, Rai V, Lundegaard PR, Olesen MS, Taylor KD, Palmer ND, Chen YD, Choi SH, Lubitz SA, Ellinor PT, Barnes KC, Daya M, Rafaels N, Weiss ST, Lasky-Su J, Tracy RP, Vasan RS, Cupples LA, Mathias RA, Yanek LR, Becker LC, Peyser PA, Bielak LF, Smith JA, Aslibekyan S, Hidalgo BA, Arnett DK, Irvin MR, Wilson JG, Musani SK, Correa A, Rich SS, Guo X, Rotter JI, Konkle BA, Johnsen JM, Ashley-Koch AE, Telen MJ, Sheehan VA, Blangero J, Curran JE, Peralta JM, Montgomery C, Sheu WH, Chung RH, Schwander K, Nouraie SM, Gordeuk VR, Zhang Y, Kooperberg C, Reiner AP, Jackson RD, Bleecker ER, Meyers DA, Li X, Das S, Yu K, LeFaive J, Smith A, Blackwell T, Taliun D, Zollner S, Forer L, Schoenherr S, Fuchsberger C, Pandit A, Zawistowski M, Kheterpal S, Brummett CM, Natarajan P, Schlessinger D, Lee S, Kang HM, Cucca F, Holmen OL, Åsvold BO, Boehnke M, Kathiresan S, Abecasis GR, Chen YE, Willer CJ, Hveem K. Nielsen JB, et al. Among authors: telen mj. Nat Commun. 2020 Dec 18;11(1):6417. doi: 10.1038/s41467-020-20086-3. Nat Commun. 2020. PMID: 33339817 Free PMC article.
Genetic polymorphisms associated with priapism in sickle cell disease.
Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ. Elliott L, et al. Among authors: telen mj. Br J Haematol. 2007 May;137(3):262-7. doi: 10.1111/j.1365-2141.2007.06560.x. Br J Haematol. 2007. PMID: 17408468 Free article.
MYH9 and APOL1 are both associated with sickle cell disease nephropathy.
Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ. Ashley-Koch AE, et al. Among authors: telen mj. Br J Haematol. 2011 Nov;155(3):386-94. doi: 10.1111/j.1365-2141.2011.08832.x. Epub 2011 Sep 13. Br J Haematol. 2011. PMID: 21910715 Free PMC article.
Reply: Practice guideline for pulmonary hypertension in sickle cell: direct evidence needed before universal adoption.
Klings ES, Machado RF, Morris CR, Gordeuk VR, Kato GJ, Ataga KI, Castro O, Hsu L, Telen MJ, Krishnamurti L, Steinberg MH, Gladwin MT; ATS Clinical Guidelines for the Diagnosis and Treatment of Pulmonary Hypertension in Sickle Cell Disease Committee. Klings ES, et al. Among authors: telen mj. Am J Respir Crit Care Med. 2014 Jul 15;190(2):238-40. doi: 10.1164/rccm.201404-0733LE. Am J Respir Crit Care Med. 2014. PMID: 25025360 Free PMC article. No abstract available.
209 results