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A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I. Tummala H, et al. Among authors: dokal i. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7. Proc Natl Acad Sci U S A. 2020. PMID: 32636268 Free PMC article.
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T. Tummala H, et al. Among authors: dokal ad, dokal i. Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9. Proc Natl Acad Sci U S A. 2018. PMID: 29987015 Free PMC article.
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T. Tummala H, et al. Among authors: dokal i. Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23. Am J Hum Genet. 2016. PMID: 27346687 Free PMC article.
161 results