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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Kondo Y, et al. Among authors: macwana s. JCI Insight. 2018 Jul 26;3(14):e121596. doi: 10.1172/jci.insight.121596. eCollection 2018 Jul 26. JCI Insight. 2018. PMID: 30046013 Free PMC article.
Genetic associations of LYN with systemic lupus erythematosus.
Lu R, Vidal GS, Kelly JA, Delgado-Vega AM, Howard XK, Macwana SR, Dominguez N, Klein W, Burrell C, Harley IT, Kaufman KM, Bruner GR, Moser KL, Gaffney PM, Gilkeson GS, Wakeland EK, Li QZ, Langefeld CD, Marion MC, Divers J, Alarcón GS, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Reveille JD, McGwin G Jr, Vilá LM, Petri MA, Bae SC, Cho SK, Bang SY, Kim I, Choi CB, Martin J, Vyse TJ, Merrill JT, Harley JB, Alarcón-Riquelme ME; BIOLUPUS and GENLES Multicenter Collaborations; Nath SK, James JA, Guthridge JM. Lu R, et al. Among authors: macwana sr. Genes Immun. 2009 Jul;10(5):397-403. doi: 10.1038/gene.2009.19. Epub 2009 Apr 16. Genes Immun. 2009. PMID: 19369946 Free PMC article.
Herpes zoster vaccination in SLE: a pilot study of immunogenicity.
Guthridge JM, Cogman A, Merrill JT, Macwana S, Bean KM, Powe T, Roberts V, James JA, Chakravarty EF. Guthridge JM, et al. Among authors: macwana s. J Rheumatol. 2013 Nov;40(11):1875-80. doi: 10.3899/jrheum.130170. Epub 2013 Sep 15. J Rheumatol. 2013. PMID: 24037550 Free PMC article. Clinical Trial.
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
Guthridge JM, Lu R, Sun H, Sun C, Wiley GB, Dominguez N, Macwana SR, Lessard CJ, Kim-Howard X, Cobb BL, Kaufman KM, Kelly JA, Langefeld CD, Adler AJ, Harley IT, Merrill JT, Gilkeson GS, Kamen DL, Niewold TB, Brown EE, Edberg JC, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Kimberly RP, Freedman BI, Stevens AM, Boackle SA, Criswell LA, Vyse TJ, Behrens TW, Jacob CO, Alarcón-Riquelme ME, Sivils KL, Choi J, Joo YB, Bang SY, Lee HS, Bae SC, Shen N, Qian X, Tsao BP, Scofield RH, Harley JB, Webb CF, Wakeland EK, James JA, Nath SK, Graham RR, Gaffney PM. Guthridge JM, et al. Among authors: macwana sr. Am J Hum Genet. 2014 Apr 3;94(4):586-98. doi: 10.1016/j.ajhg.2014.03.008. Am J Hum Genet. 2014. PMID: 24702955 Free PMC article.
Adults with systemic lupus exhibit distinct molecular phenotypes in a cross-sectional study.
Guthridge JM, Lu R, Tran LT, Arriens C, Aberle T, Kamp S, Munroe ME, Dominguez N, Gross T, DeJager W, Macwana SR, Bourn RL, Apel S, Thanou A, Chen H, Chakravarty EF, Merrill JT, James JA. Guthridge JM, et al. Among authors: macwana sr. EClinicalMedicine. 2020 Mar 4;20:100291. doi: 10.1016/j.eclinm.2020.100291. eCollection 2020 Mar. EClinicalMedicine. 2020. PMID: 32154507 Free PMC article.
31 results