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321 results

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Page 1
Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.
Kavanagh D, McGlasson S, Jury A, Williams J, Scolding N, Bellamy C, Gunther C, Ritchie D, Gale DP, Kanwar YS, Challis R, Buist H, Overell J, Weller B, Flossmann O, Blunden M, Meyer EP, Krucker T, Evans SJ, Campbell IL, Jackson AP, Chandran S, Hunt DP. Kavanagh D, et al. Among authors: jackson ap. Blood. 2016 Dec 15;128(24):2824-2833. doi: 10.1182/blood-2016-05-715987. Epub 2016 Sep 23. Blood. 2016. PMID: 27663672 Free PMC article.
Thrombotic microangiopathy associated with interferon beta.
Hunt D, Kavanagh D, Drummond I, Weller B, Bellamy C, Overell J, Evans S, Jackson A, Chandran S. Hunt D, et al. N Engl J Med. 2014 Mar 27;370(13):1270-1. doi: 10.1056/NEJMc1316118. N Engl J Med. 2014. PMID: 24670186 Free PMC article. No abstract available.
Type I interferon dysregulation and neurological disease.
McGlasson S, Jury A, Jackson A, Hunt D. McGlasson S, et al. Nat Rev Neurol. 2015 Sep;11(9):515-23. doi: 10.1038/nrneurol.2015.143. Epub 2015 Aug 25. Nat Rev Neurol. 2015. PMID: 26303851 Review.
Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.
McGlasson S, Rannikmäe K, Bevan S, Logan C, Bicknell LS, Jury A; UK Young Lacunar Stroke Study; Jackson AP, Markus HS, Sudlow C, Hunt DPJ. McGlasson S, et al. Among authors: jackson ap. Wellcome Open Res. 2017 Nov 2;2:106. doi: 10.12688/wellcomeopenres.12631.1. eCollection 2017. Wellcome Open Res. 2017. PMID: 29387804 Free PMC article.
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
Zimmermann M, Murina O, Reijns MAM, Agathanggelou A, Challis R, Tarnauskaitė Ž, Muir M, Fluteau A, Aregger M, McEwan A, Yuan W, Clarke M, Lambros MB, Paneesha S, Moss P, Chandrashekhar M, Angers S, Moffat J, Brunton VG, Hart T, de Bono J, Stankovic T, Jackson AP, Durocher D. Zimmermann M, et al. Among authors: jackson ap. Nature. 2018 Jul;559(7713):285-289. doi: 10.1038/s41586-018-0291-z. Epub 2018 Jul 4. Nature. 2018. PMID: 29973717 Free PMC article.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. Harley ME, et al. Among authors: jackson sp, jackson ap. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23. Nat Genet. 2016. PMID: 26595769 Free PMC article.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: jackson ap. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP. Heyn P, et al. Among authors: jackson ap. Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26. Nat Genet. 2019. PMID: 30478443 Free PMC article.
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP. Martin CA, et al. Among authors: jackson ap. Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26. Nat Genet. 2014. PMID: 25344692 Free PMC article.
321 results