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Page 1
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: carroll p. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. Among authors: carroll p. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.
Mackenzie KJ, Carroll P, Lettice L, Tarnauskaitė Ž, Reddy K, Dix F, Revuelta A, Abbondati E, Rigby RE, Rabe B, Kilanowski F, Grimes G, Fluteau A, Devenney PS, Hill RE, Reijns MA, Jackson AP. Mackenzie KJ, et al. Among authors: carroll p. EMBO J. 2016 Apr 15;35(8):831-44. doi: 10.15252/embj.201593339. Epub 2016 Feb 22. EMBO J. 2016. PMID: 26903602 Free PMC article.
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study; Wood AJ, Vagnarelli P, Jackson AP. Martin CA, et al. Among authors: carroll p. Genes Dev. 2016 Oct 1;30(19):2158-2172. doi: 10.1101/gad.286351.116. Epub 2016 Oct 13. Genes Dev. 2016. PMID: 27737959 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: carroll p. 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.
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
Martin CA, Murray JE, Carroll P, Leitch A, MacKenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study,; Wood AJ, Vagnarelli P, Jackson AP. Martin CA, et al. Among authors: carroll p. Genes Dev. 2017 May 1;31(9):953. doi: 10.1101/gad.300871.117. Genes Dev. 2017. PMID: 28566537 Free PMC article. No abstract available.
cGAS surveillance of micronuclei links genome instability to innate immunity.
Mackenzie KJ, Carroll P, Martin CA, Murina O, Fluteau A, Simpson DJ, Olova N, Sutcliffe H, Rainger JK, Leitch A, Osborn RT, Wheeler AP, Nowotny M, Gilbert N, Chandra T, Reijns MAM, Jackson AP. Mackenzie KJ, et al. Among authors: carroll p. Nature. 2017 Aug 24;548(7668):461-465. doi: 10.1038/nature23449. Epub 2017 Jul 24. Nature. 2017. PMID: 28738408 Free PMC article.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A; Scottish Genomes Partnership; Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Members of the Scottish Genome Partnership include. Parry DA, et al. Among authors: carroll p. Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15. Genes Dev. 2020. PMID: 33060134 Free PMC article.
In silico protein interaction screening uncovers DONSON's role in replication initiation.
Lim Y, Tamayo-Orrego L, Schmid E, Tarnauskaite Z, Kochenova OV, Gruar R, Muramatsu S, Lynch L, Schlie AV, Carroll PL, Chistol G, Reijns MAM, Kanemaki MT, Jackson AP, Walter JC. Lim Y, et al. Among authors: carroll pl. Science. 2023 Sep 22;381(6664):eadi3448. doi: 10.1126/science.adi3448. Epub 2023 Sep 22. Science. 2023. PMID: 37590370 Free PMC article.
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Reijns MAM, Parry DA, Williams TC, Nadeu F, Hindshaw RL, Rios Szwed DO, Nicholson MD, Carroll P, Boyle S, Royo R, Cornish AJ, Xiang H, Ridout K; Genomics England Research Consortium; Colorectal Cancer Domain UK 100,000 Genomes Project; Schuh A, Aden K, Palles C, Campo E, Stankovic T, Taylor MS, Jackson AP. Reijns MAM, et al. Among authors: carroll p. Nature. 2022 Feb;602(7898):623-631. doi: 10.1038/s41586-022-04403-y. Epub 2022 Feb 9. Nature. 2022. PMID: 35140396 Free PMC article.
2,054 results