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Page 1
Downregulation of ribosome biogenesis during early forebrain development.
Chau KF, Shannon ML, Fame RM, Fonseca E, Mullan H, Johnson MB, Sendamarai AK, Springel MW, Laurent B, Lehtinen MK. Chau KF, et al. Among authors: sendamarai ak. Elife. 2018 May 10;7:e36998. doi: 10.7554/eLife.36998. Elife. 2018. PMID: 29745900 Free PMC article.
UBE2O remodels the proteome during terminal erythroid differentiation.
Nguyen AT, Prado MA, Schmidt PJ, Sendamarai AK, Wilson-Grady JT, Min M, Campagna DR, Tian G, Shi Y, Dederer V, Kawan M, Kuehnle N, Paulo JA, Yao Y, Weiss MJ, Justice MJ, Gygi SP, Fleming MD, Finley D. Nguyen AT, et al. Among authors: sendamarai ak. Science. 2017 Aug 4;357(6350):eaan0218. doi: 10.1126/science.aan0218. Science. 2017. PMID: 28774900 Free PMC article.
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.
Roychowdhury T, Lu H, Hornsby WE, Crone B, Wang GT, Guo DC, Sendamarai AK, Devineni P, Lin M, Zhou W, Graham SE, Wolford BN, Surakka I, Wang Z, Chang L, Zhang J, Mathis M, Brummett CM, Melendez TL, Shea MJ, Kim KM, Deeb GM, Patel HJ, Eliason J, Eagle KA, Yang B, Ganesh SK, Brumpton B, Åsvold BO, Skogholt AH, Hveem K; VA Million Veteran Program; Pyarajan S, Klarin D, Tsao PS, Damrauer SM, Leal SM, Milewicz DM, Chen YE, Garcia-Barrio MT, Willer CJ. Roychowdhury T, et al. Among authors: sendamarai ak. Am J Hum Genet. 2021 Sep 2;108(9):1578-1589. doi: 10.1016/j.ajhg.2021.06.016. Epub 2021 Jul 14. Am J Hum Genet. 2021. PMID: 34265237 Free PMC article.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: sendamarai ak. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Among authors: sendamarai ak. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 Free PMC article.
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
Mangum JE, Hardee JP, Fix DK, Puppa MJ, Elkes J, Altomare D, Bykhovskaya Y, Campagna DR, Schmidt PJ, Sendamarai AK, Lidov HG, Barlow SC, Fischel-Ghodsian N, Fleming MD, Carson JA, Patton JR. Mangum JE, et al. Among authors: sendamarai ak. Sci Rep. 2016 May 20;6:26202. doi: 10.1038/srep26202. Sci Rep. 2016. PMID: 27197761 Free PMC article.
20 results