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Page 1
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
J Clin Invest. 2023 Apr 3;133(7):e152784. doi: 10.1172/JCI152784.
J Clin Invest. 2023.
PMID: 36795492
Free PMC article.
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Westrip CAE, Paul F, Al-Murshedi F, Qaitoon H, Cham B, Fletcher SC, Hendrix E, Boora U, Ng AYJ, Bonnard C, Najafi M, Alawbathani S, Lambert I, Fox G, Venkatesh B, Bertoli-Avella A, Tan ES, Al-Maawali A, Reversade B, Coleman ML.
Westrip CAE, et al. Among authors: boora u.
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.
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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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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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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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