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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: jackson ap. 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.
Mutations in microcephalin cause aberrant regulation of chromosome condensation.
Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Trimborn M, et al. Among authors: jackson ap. Am J Hum Genet. 2004 Aug;75(2):261-6. doi: 10.1086/422855. Epub 2004 Jun 15. Am J Hum Genet. 2004. PMID: 15199523 Free PMC article.
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Crow YJ, et al. Among authors: jackson ap. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845398
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP. Crow YJ, et al. Among authors: jackson ap. Nat Genet. 2006 Aug;38(8):910-6. doi: 10.1038/ng1842. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845400
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, V… See abstract for full author list ➔ Rice G, et al. Among authors: jackson ap. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Nucleic acid-mediated inflammatory diseases.
Rigby RE, Leitch A, Jackson AP. Rigby RE, et al. Among authors: jackson ap. Bioessays. 2008 Sep;30(9):833-42. doi: 10.1002/bies.20808. Bioessays. 2008. PMID: 18693262 Review.
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. Kalay E, et al. Among authors: jackson ap. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131973 Free PMC article.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Bicknell LS, et al. Among authors: jackson ap. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. Nat Genet. 2011. PMID: 21358632 Free PMC article.
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Bicknell LS, et al. Among authors: jackson ap. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776. Nat Genet. 2011. PMID: 21358633
315 results