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Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Genet Med. 2023 Sep;25(9):100893. doi: 10.1016/j.gim.2023.100893. Epub 2023 May 11.
Genet Med. 2023.
PMID: 37179472
Free article.
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
Fletcher SC, Hall C, Kennedy TJ, Pajusalu S, Wojcik MH, Boora U, Li C, Oja KT, Hendrix E, Westrip CA, Andrijes R, Piasecka SK, Singh M, El-Asrag ME, Ptasinska A, Tillmann V, Higgs MR, Carere DA, Beggs AD, Pappas J, Rabin R, Smerdon SJ, Stewart GS, Õunap K, Coleman ML.
Fletcher SC, et al. Among authors: boora u.
J Clin Invest. 2023 Apr 3;133(7):e152784. doi: 10.1172/JCI152784.
J Clin Invest. 2023.
PMID: 36795492
Free PMC article.
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Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN).
Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z, Maher ER.
Lu X, et al. Among authors: boora u.
Oncogene. 2014 Feb 20;33(8):956-65. doi: 10.1038/onc.2013.27. Epub 2013 Feb 18.
Oncogene. 2014.
PMID: 23416984
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Gene expression and protein array studies of folliculin-regulated pathways.
Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, Maher ER.
Reiman A, et al. Among authors: boora u.
Anticancer Res. 2012 Nov;32(11):4663-70.
Anticancer Res. 2012.
PMID: 23155228
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Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER.
Nahorski MS, et al. Among authors: boora u.
Hum Mutat. 2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12.
Hum Mutat. 2011.
PMID: 21538689
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