Andrew Jackson

Search results

• 2015

  Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

  Guenther, C., Kind, B., Reijns, M. A. M., Berndt, N., Martinez-Bueno, M., Wolf, C., Tuengler, V., Chara, O., Lee, Y. A., Huebner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K. R., Ramantani, G., Bauerfeind, A., Morris, D. L., & 25 othersGraham, D. S. C., Bubeck, D., Leitch, A., Ralston, S. H., Blackburn, E. A., Gahr, M., Witte, T., Vyse, T. J., Melchers, I., Mangold, E., Noethen, M. M., Aringer, M., Kuhn, A., Luethke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J. D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M. E., Jackson, A. P. & Lee-Kirsch, M. A., Jan 2015, In: Journal of Clinical Investigation. 125, 1, p. 413-424 12 p.

  Research output: Contribution to journal › Article › peer-review

  • DNA 100%
  • Autoimmunity 100%
  • Ribonucleotide 100%
  • Ribonuclease 100%
  • Systemic Autoimmunity 100%
• 2014

  Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

  Martin, C-A., Ahmad, I., Klingseisen, A., Hussain, M. S., Bicknell, L. S., Leitch, A., Nürnberg, G., Toliat, M. R., Murray, J. E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M. E., Heyn, P., Müller, R., Hoffmann, I., Daire, V. C., & 18 othersDollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A. T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J., Höhne, W., Hurles, M. E., Noegel, A. A., Baig, S. M., Nürnberg, P. & Jackson, A. P., Dec 2014, In: Nature Genetics. 46, 12, p. 1283–1292 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Centriole 100%
  • Biogenesis 100%
  • Growth 100%
  • Nested Gene 40%

• A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

  Chen, C-T., Hehnly, H., Yu, Q., Farkas, D., Zheng, G., Redick, S. D., Hung, H-F., Samtani, R., Jurczyk, A., Akbarian, S., Wise, C., Jackson, A., Bober, M., Guo, Y., Lo, C. & Doxsey, S., 6 Oct 2014, In: Current biology : CB. 24, 19, p. 2327-34 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Centrosome 100%
  • Protein 100%
  • Mouse 50%
  • Phenotype 33%
  • Fibroblast 33%

• Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

  Pizzi, S., Sertic, S., Orcesi, S., Cereda, C., Bianchi, M., Jackson, A. P., Lazzaro, F., Plevani, P. & Muzi-Falconi, M., 30 Sept 2014, In: Human Molecular Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • DNA 100%
  • Genome Instability 100%
  • Reduction (Chemistry) 100%
  • Ribonuclease 75%
  • Mutation 50%

• RNase H in health and disease

  Reijns, M. A. M. & Jackson, A. P., 1 Aug 2014, In: Biochemical Society Transactions. 42, 4, p. 717-25 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Lysozyme 100%
  • Health 100%
  • RNase H 100%
  • Nucleic Acid 60%
  • Ribonuclease 60%

• Hypomorphic PCNA mutation underlies a human DNA repair disorder

  Baple, E. L., Chambers, H., Cross, H. E., Fawcett, H., Nakazawa, Y., Chioza, B. A., Harlalka, G. V., Mansour, S., Sreekantan-Nair, A., Patton, M. A., Muggenthaler, M., Rich, P., Wagner, K., Coblentz, R., Stein, C. K., Last, J. I., Taylor, A. M. R., Jackson, A. P., Ogi, T., Lehmann, A. R., & 2 othersGreen, C. M. & Crosby, A. H., 1 Jul 2014, In: Journal of Clinical Investigation. 124, 7, p. 3137-3146

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • DNA Repair 100%
  • Proliferating Cell Nuclear Antigen 100%
  • DNA Replication 40%
  • Protein 40%

• Thrombotic microangiopathy associated with interferon beta

  Hunt, D., Kavanagh, D., Drummond, I., Weller, B., Overell, J., Bellamy, C., Evans, S., Jackson, A. & Chandran, S., 27 Mar 2014, In: New England Journal of Medicine. 370, 13, p. 1270-1 2 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• RNA:DNA hybrids are a novel molecular pattern sensed by TLR9

  Rigby, R. E., Webb, L. M., Mackenzie, K. J., Li, Y., Leitch, A., Reijns, M. A. M., Lundie, R. J., Revuelta, A., Davidson, D. J., Diebold, S., Modis, Y., MacDonald, A. S. & Jackson, A. P., 18 Mar 2014, In: EMBO Journal. 33, 6, p. 542-558 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • DNA RNA Hybridization 100%
  • TLR9 100%
  • Innate Immune System 50%
  • Innate Immunity 50%
  • Interferon Production 25%
• 2013

  The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

  Köhler, S., Doelken, S. C., Mungall, C. J., Bauer, S., Firth, H. V., Bailleul-Forestier, I., Black, G. C. M., Brown, D. L., Brudno, M., Campbell, J., Fitzpatrick, D. R., Eppig, J. T., Jackson, A. P., Freson, K., Girdea, M., Helbig, I., Hurst, J. A., Jähn, J., Jackson, L. G., Kelly, A. M., & 27 othersLedbetter, D. H., Mansour, S., Martin, C. L., Moss, C., Mumford, A., Ouwehand, W. H., Park, S-M., Riggs, E. R., Scott, R. H., Sisodiya, S., Vooren, S. V., Wapner, R. J., Wilkie, A. O. M., Wright, C. F., Vulto-van Silfhout, A. T., Leeuw, N. D., de Vries, B. B. A., Washingthon, N. L., Smith, C. L., Westerfield, M., Schofield, P., Ruef, B. J., Gkoutos, G. V., Haendel, M., Smedley, D., Lewis, S. E. & Robinson, P. N., 11 Nov 2013, In: Nucleic Acids Research.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Linking 100%
  • Ontology 100%
  • Classes 40%
  • Database 30%
  • Interoperability 20%

• ECAT-V: where clinical and research training meet

  Argyle, D. J., Iredale, J. P., Jackson, A. P. & Walker, B. R., 19 Oct 2013, In: Veterinary Record. 173, 15, p. 364-5 2 p.

  Research output: Contribution to journal › Article › peer-review

  • Research Training 100%
  • Program 100%
  • Research 66%
  • Training 33%
  • Applicant 33%

• Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

  Murray, J. E., Bicknell, L. S., Yigit, G., Duker, A. L., van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M. H., Wise, C. A., Brandon, J., Kleefstra, T., Warris, A., van der Flier, M., Bamforth, J. S., Doonanco, K., Adès, L., Ma, A., Field, M., Johnson, D., & 9 othersShackley, F., Firth, H., Woods, C. G., Nürnberg, P., Gatti, R. A., Hurles, M., Bober, M. B., Wollnik, B. & Jackson, A. P., 10 Oct 2013, In: Human Mutation: Variation, Informatics and Disease.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Ligase 100%
  • Growth Disorder 100%
  • Patient 100%
  • Growth 100%
  • Mutation 83%

• Cerebral organoids model human brain development and microcephaly

  Lancaster, M. A., Renner, M., Martin, C-A., Wenzel, D., Bicknell, L. S., Hurles, M. E., Homfray, T., Penninger, J. M., Jackson, A. P. & Knoblich, J. A., 19 Sept 2013, In: Nature. 501, 7467, p. 373-9 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Microcephaly 100%
  • Brain Development 100%
  • Brain 60%
  • Development 40%
  • Nerve Cell Differentiation 20%

• Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutières Syndrome

  Rice, G. I., Reijns, M., Coffin, S. R., Forte, G. M. A., Anderson, B. H., Szynkiewicz, M., Gornall, H., Gent, D., Leitch, A., Botella, M. P., Fazzi, E., Gener, B., Lagae, L., Olivieri, I., Orcesi, S., Swoboda, K., Perrino, F. W., Jackson, A. & Crow, Y. J., Aug 2013, In: Human Mutation: Variation, Informatics and Disease. p. 1066-1070 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Ribonuclease 100%
  • Lysozyme 100%
  • Protein 60%
  • Exon 60%

• Replication Proteins and Human Disease

  Jackson, A. P., Laskey, R. A. & Coleman, N., 23 Jul 2013, In: Cold Spring Harbor perspectives in biology.

  Research output: Contribution to journal › Article › peer-review

  • Replication Protein 100%
  • Mutation 20%
  • DNA Replication 20%
  • Nested Gene 20%

• A de novo SRCAP mutation associated with Floating-Harbor syndrome

  Uzak, A. S., Jackson, A. P., Murray, J. E., Bicknell, L. S. & Dundar, M., Jul 2013, In: Current opinion in biotechnology. 24, p. S100-S100 1 p.

  Research output: Contribution to journal › Meeting abstract › peer-review

• Quantifying single nucleotide variant detection sensitivity in exome sequencing

  Meynert, A., Bicknell, L., Jackson, A. & Taylor, M. S., 18 Jun 2013, In: BMC Bioinformatics. 14, 195, 195.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Single-Nucleotide Polymorphism 100%
  • Exome Sequencing 100%
  • Polymorphism 83%
  • Genotyping 50%
  • Allele 50%

• Identification of Small-Molecule Inhibitors of the Ribonuclease H2 Enzyme

  White, R., Saxty, B., Large, J., Kettleborough, C. A. & Jackson, A. P., Jun 2013, In: Journal of Biomolecular Screening. 18, 5, p. 610-620 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Small Molecule 100%
  • Ribonuclease 100%
  • Lysozyme 100%
  • Cell Function 20%
  • DNA RNA Hybridization 20%

• Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair

  Ghodgaonkar, M. M., Lazzaro, F., Olivera-Pimentel, M., Artola-Boran, M., Cejka, P., Reijns, M., Jackson, A., Plevani, P., Muzi-Falconi, M. & Jiricny, J., 9 May 2013, In: Molecular Cell. 50, 3, p. 323-332 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • DNA Mismatch Repair 100%
  • DNA 100%
  • Ribonucleotide 100%
  • Ribonuclease 37%
  • DNA Strand 25%

• ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

  Sarkozy, A., Hicks, D., Hudson, J., Laval, S. H., Barresi, R., Hilton-Jones, D., Deschauer, M., Harris, E., Rufibach, L., Hwang, E., Bashir, R., Walter, M. C., Krause, S., van den Bergh, P., Illa, I., Pénisson-Besnier, I., De Waele, L., Turnbull, D., Guglieri, M., Schrank, B., & 43 othersSchoser, B., Seeger, J., Schreiber, H., Gläser, D., Eagle, M., Bailey, G., Walters, R., Longman, C., Norwood, F., Winer, J., Muntoni, F., Hanna, M., Roberts, M., Bindoff, L. A., Brierley, C., Cooper, R. G., Cottrell, D. A., Davies, N. P., Gibson, A., Gorman, G. S., Hammans, S., Jackson, A. P., Khan, A., Lane, R., McConville, J., McEntagart, M., Al-Memar, A., Nixon, J., Panicker, J., Parton, M., Petty, R., Price, C. J., Rakowicz, W., Ray, P., Schapira, A. H., Swingler, R., Turner, C., Wagner, K. R., Maddison, P., Shaw, P. J., Straub, V., Bushby, K. & Lochmüller, H., 18 Apr 2013, In: Human Mutation: Variation, Informatics and Disease.

  Research output: Contribution to journal › Article › peer-review

  • Male 100%
  • Prevalence 100%
  • Gene Mutation 100%
  • Analysis 100%
  • Exon 100%

• Head circumference needs to be measured Reply

  Murray, J. & Jackson, A., Feb 2013, In: Developmental Medicine & Child Neurology (DMCN). 55, 2, p. 194-194 1 p.

  Research output: Contribution to journal › Letter › peer-review
• 2012

  Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

  Bober, M. B., Niiler, T., Duker, A. L., Murray, J. E., Ketterer, T., Harley, M. E., Alvi, S., Flora, C., Rustad, C., Bongers, E. M. H. F., Bicknell, L. S., Wise, C. & Jackson, A. P., Nov 2012, In: The American Journal of Medical Genetics - Part A (AJMG). 158A, 11, p. 2719-25 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Growth 100%
  • Pericentrin 100%
  • Mutation 100%
  • Weight 100%
  • Postnatal Growth 66%

• Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

  de Munnik, S. A., Otten, B. J., Schoots, J., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Borm, G. F., Clayton-Smith, J., Deal, C. L., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M., & 18 othersRamadevi, A. R., Reardon, W., Ross, A., Sarda, P., Schrander-Stumpel, C. T. R. M., Sluiter, A. E., Temple, I. K., Terhal, P. A., Toutain, A., Wise, C. A., Wright, M., Skidmore, D. L., Samuels, M. E., Hoefsloot, L. H., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., Nov 2012, In: The American Journal of Medical Genetics - Part A (AJMG). 158A, 11, p. 2733-2742 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Gorlin Syndrome 100%
  • Growth 100%
  • Microcephaly 100%
  • Patient 44%
  • Height 44%

• A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

  Pagnamenta, A. T., Murray, J. E., Yoon, G., Akha, E. S., Harrison, V., Bicknell, L. S., Ajilogba, K., Stewart, H., Kini, U., Taylor, J. C., Keays, D. A., Jackson, A. P. & Knight, S. J. L., 1 Oct 2012, In: The American Journal of Medical Genetics - Part A (AJMG). 158A, 10, p. 2577-2582

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • CDK5RAP2 100%
  • Hearing 100%
  • Sensorineural Hearing Loss 100%
  • Microcephaly 100%

• LIG4 mutations are a common cause of microcephalic primordial dwarfism

  Murray, J. E., Bicknell, L. S., Bober, M., Wollnik, B. & Jackson, A. P., Sept 2012, In: Journal of Medical Genetics. 49, p. S20-S20 1 p.

  Research output: Contribution to journal › Meeting abstract › peer-review

• The Aicardi Goutieres syndrome RNaseH2 genes encode a key genome surveillance enzyme essential for removing ribonucleotides embedded in genomic DNA

  Jackson, A., Reijns, M. A. M., Rabe, B., Rigby, R. E., Mill, P., Astell, K. R., Lettice, L. A., Boyle, S., Leitch, A., Keighren, K., Kilanowski, F., Devenney, P. S., Sexton, D., Grimes, G., Holt, I. J., Taylor, M. S., Lawson, K. A. & Dorin, J. R., Sept 2012, In: Journal of Medical Genetics. 49, p. S31-S31 1 p.

  Research output: Contribution to journal › Meeting abstract

• Enzymatic removal of ribonucleotides from DNA is essential for Mammalian genome integrity and development

  Reijns, M. A. M., Rabe, B., Rigby, R. E., Mill, P., Astell, K. R., Lettice, L. A., Boyle, S., Leitch, A., Keighren, M., Kilanowski, F., Devenney, P. S., Sexton, D., Grimes, G., Holt, I. J., Hill, R. E., Taylor, M. S., Lawson, K. A., Dorin, J. R. & Jackson, A. P., 2012, In: Cell. 149, 5, p. 1008-22 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • DNA 100%
  • Development 100%
  • Ribonucleotide 100%
  • Ribonuclease 83%
  • Lysozyme 50%

• Exploring microcephaly and human brain evolution

  Murray, J. E. & Jackson, A. P., 2012, In: Developmental Medicine & Child Neurology (DMCN). 54, 7, p. 580-1 2 p.

  Research output: Contribution to journal › Article › peer-review

• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  de Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Clayton-Smith, J., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M., Ramadevi, A. R., Reardon, W., Ross, A., Sarda, P., & 14 othersSchrander-Stumpel, C. T. R. M., Schoots, J., Temple, I. K., Terhal, P. A., Toutain, A., Wise, C. A., Wright, M., Skidmore, D. L., Samuels, M. E., Hoefsloot, L. H., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., 2012, In: European Journal of Human Genetics. 20, 6, p. 598-606 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Pre-Replication Complex 100%
  • Genotyping 100%
  • Phenotype 100%
  • Gene Mutation 100%
• 2011

  Using crystallography and biophysics to understand mutations in the Aicardi-Goutieres Syndrome Ribonuclease H2 enzyme

  Reijns, M., Bubeck, D., Gibson, L. C. D., Graham, S. C., Leitch, A., Baillie, G. S., Jones, E. Y. & Jackson, A., Sept 2011, p. S30-S30. 1 p.

  Research output: Contribution to conference › Abstract

• Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

  Bicknell, L. S., Walker, S., Klingseisen, A., Stiff, T., Leitch, A., Kerzendorfer, C., Martin, C-A., Yeyati, P., Al Sanna, N., Bober, M., Johnson, D., Wise, C., Jackson, A. P., O'Driscoll, M. & Jeggo, P. A., Apr 2011, In: Nature Genetics. 43, 4, p. 350-355 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Origin Recognition Complex 100%
  • Growth 100%
  • S Phase 50%
  • Centrosome 25%

• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Bicknell, L. S., Bongers, E. M. H. F., Leitch, A., Brown, S., Schoots, J., Harley, M. E., Aftimos, S., Al-Aama, J. Y., Bober, M., Brown, P. A. J., van Bokhoven, H., Dean, J., Edrees, A. Y., Feingold, M., Fryer, A., Hoefsloot, L. H., Kau, N., Knoers, N. V. A. M., Mackenzie, J., Opitz, J. M., & 7 othersSarda, P., Ross, A., Temple, I. K., Toutain, A., Wise, C. A., Wright, M. & Jackson, A. P., Apr 2011, In: Nature Genetics. 43, 4, p. 356-359 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Pre-Replication Complex 100%
  • Nested Gene 100%
  • Intellect 50%
  • Genetics 50%

• Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

  Majewski Osteodysplastic Primordial Dwarfism Study Group, Huang-Doran, I., Bicknell, L. S., Finucane, F. M., Rocha, N., Porter, K. M., Tung, Y. C. L., Szekeres, F., Krook, A., Nolan, J. J., O'Driscoll, M., Bober, M., O'Rahilly, S., Jackson, A. P. & Semple, R. K., Mar 2011, In: Diabetes . 60, 3, p. 925-935 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Diabetes 100%
  • Insulin Resistance 100%
  • Pericentrin 100%
  • Genetic Disorder 100%
  • Genetics 100%

• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L., Kayserili, H., Li, Y., Tuysuz, B., Nuernberg, G., Kiess, W., Koegl, M., Baessmann, I., Buruk, K., Toraman, B., Kayipmaz, S., Kul, S., Ikbal, M., Turner, D. J., Taylor, M., & 12 othersAerts, J., Scott, C., Milstein, K., Dollfus, H., Wieczorek, D., Brunner, H. G., Hurles, M., Jackson, A., Rauch, A., Nuernberg, P., Karaguzel, A. & Wollnik, B., Jan 2011, In: Nature Genetics. 43, 1, p. 23-26 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Protein 100%
  • DNA Damage Response 100%
  • Mutation 50%
  • Exome Sequencing 50%
  • Homozygosity 50%

• Mechanisms and pathways of growth failure in primordial dwarfism

  Klingseisen, A. & Jackson, A. P., 2011, In: Genes & Development. 25, 19, p. 2011-24 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Growth Disorder 100%
  • Growth 100%
  • Single Gene Disorder 50%
  • Microcephaly 50%
  • Organism 50%

• PCNA directs type 2 RNase H activity on DNA replication and repair substrates

  Bubeck, D., Reijns, M. A. M., Graham, S. C., Astell, K. R., Jones, E. Y. & Jackson, A. P., 2011, In: Nucleic Acids Research. 39, 9, p. 3652-66 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • DNA Replication 100%
  • DNA Repair 100%
  • Ribonuclease 100%
  • RNase H 100%
  • Lysozyme 42%

• SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

  Leung, J. W., Leitch, A., Wood, J. L., Shaw-Smith, C., Metcalfe, K., Bicknell, L. S., Jackson, A. P. & Chen, J., 2011, In: Journal of Biological Chemistry. 286, 24, p. 21393-400 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Chromosome Condensation 100%
  • Oncogene 100%
  • Association 100%
  • Microcephalin 100%
  • N-Terminus 66%

• The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease

  Reijns, M. A. M., Bubeck, D., Gibson, L. C. D., Graham, S. C., Baillie, G. S., Jones, E. Y. & Jackson, A. P., 2011, In: Journal of Biological Chemistry. 286, 12, p. 10530-9 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • H2 System 100%
  • Ribonuclease 100%
  • Lysozyme 100%
  • Mutation 50%
  • C-Terminus 50%
• 2010

  Biomimetic and Biofeedback approaches for Brain Machine Interface

  Nazarpour, K. & Jackson, A., 14 Dec 2010, p. 207-211. 5 p.

  Research output: Contribution to conference › Paper › peer-review

  Open Access

  File

  • Biomimetics 100%
  • Biofeedback 100%
  • Macaca 33%
  • Haplorhini 33%
  • Recording 33%

• Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

  Pohjoismäki, J. L. O., Holmes, J. B., Wood, S. R., Yang, M-Y., Yasukawa, T., Reyes, A., Bailey, L. J., Cluett, T. J., Goffart, S., Willcox, S., Rigby, R. E., Jackson, A. P., Spelbrink, J. N., Griffith, J. D., Crouch, R. J., Jacobs, H. T. & Holt, I. J., 2010, In: Journal of Molecular Biology. 397, 5, p. 1144-55 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Mitochondrial DNA Replication 100%
  • RNA 100%
  • DNA RNA Hybridization 100%
  • Antibody 33%
  • Transmission Electron Microscopy 33%
• 2009

  Erratum: Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): Clinical features including sphincter disturbance in a large pedigree (Journal of Neurology, Neurosurgery and Psychiatry (2009) 80 (583-584))

  Miller, T. D., Jackson, A. P., Barresi, R., Smart, C. M., Eugenicos, M., Summers, D., Clegg, S., Straub, V. & Stone, J., May 2009, In: Journal of Neurology, Neurosurgery and Psychiatry. 80, 5, 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

• Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree

  Miller, T. D., Jackson, A. P., Barresi, R., Smart, C. M., Eugenicos, M., Summers, D., Clegg, S., Straub, V. & Stone, J., May 2009, In: Journal of Neurology, Neurosurgery & Psychiatry. 80, 5, p. 583-4 2 p.

  Research output: Contribution to journal › Article › peer-review

• 17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

  Sharkey, F. H., Morrison, N., Murray, R., Iremonger, J., Stephen, J., Maher, E., Tolmie, J. & Jackson, A., 2009, In: Cytogenetic and Genome Research. 127, 1, p. 61-66 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Phenotype 100%
  • Microdeletion Syndrome 100%
  • Learning 75%
  • Candidate Gene 25%
  • Spectrum 25%

• BRIT1/MCPH1 links chromatin remodelling to DNA damage response

  Peng, G., Yim, E-K., Dai, H., Jackson, A. P., Burgt, I. V. D., Pan, M-R., Hu, R., Li, K. & Lin, S-Y., 2009, In: Nature Cell Biology. 11, 7, p. 865-72 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Chromatin Remodeling 100%
  • DNA Damage Response 100%
  • DNA Damage 100%
  • Chromatin 80%
  • SWI/SNF 80%

• Diversifying microtubules in brain development

  Jackson, A. P., 2009, In: Nature Genetics. 41, 6, p. 638-40 3 p.

  Research output: Contribution to journal › Article › peer-review
• 2008

  Inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD): Extending the clinical features in a large pedigree

  Barresi, R., Miller, T. D., Jackson, A., Charlton, R., Stone, J. & Straub, V., Oct 2008, In: Neuromuscular Disorders. 18, 9-10, p. 766-766 1 p.

  Research output: Contribution to journal › Meeting abstract › peer-review

• Nucleic acid-mediated inflammatory diseases

  Rigby, R. E., Leitch, A. & Jackson, A. P., Sept 2008, In: BioEssays. 30, 9, p. 833-42 10 p.

  Research output: Contribution to journal › Literature review › peer-review

  • Nucleic Acid 100%
  • Lysozyme 100%
  • Inflammatory Disorder 100%
  • Nested Gene 66%
  • Gene 66%

• Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

  Griffith, E., Walker, S., Martin, C-A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, N., Saggar, A., Hamel, B., Earnshaw, W. C., Jeggo, P. A., Jackson, A. P. & O'Driscoll, M., Feb 2008, In: Nature Genetics. 40, 2, p. 232-236 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • DNA Damage 100%
  • Brain Size 75%
  • Human 50%
  • Protein 50%
• 2007

  Clinical and molecular phenotype of Aicardi-Goutieres syndrome

  Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., Bergmann, C., Bertini, E., Biancheri, R., Blair, E. M., Blau, N., Bonthron, D. T., Briggs, T., Brueton, L. A., & 98 othersBrunner, H. G., Burke, C. J., Carr, I. M., Carvalho, D. R., Chandler, K. E., Christen, H-J., Corry, P. C., Cowan, F. M., Cox, H., D'Arrigo, S., Dean, J., De Laet, C., De Praeter, C., Dery, C., Ferrie, C. D., Flintoff, K., Frints, S. G. M., Garcia-Cazorla, A., Gener, B., Goizet, C., Goutieres, F., Green, A. J., Guet, A., Hamel, B. C. J., Hayward, B. E., Heiberg, A., Hennekam, R. C., Husson, M., Jackson, A. P., Jayatunga, R., Jiang, Y-H., Kant, S. G., Kao, A., King, M. D., Kingston, H. M., Klepper, J., van der Knaap, M. S., Kornberg, A. J., Kotzot, D., Kratzer, W., Lacombe, D., Lagae, L., Landrieu, P. G., Lanzi, G., Leitch, A., Lim, M. J., Livingston, J. H., Lourenco, C. M., Lyall, E. G. H., Lynch, S. A., Lyons, M. J., Marom, D., McClure, J. P., McWilliam, R., Melancon, S. B., Mewasingh, L. D., Moutard, M-L., Nischal, K. K., Ostergaard, J. R., Prendiville, J., Rasmussen, M., Rogers, R. C., Roland, D., Rosser, E. M., Rostasy, K., Roubertie, A., Sanchis, A., Schiffmann, R., Scholl-Burgi, S., Seal, S., Shalev, S. A., Corcoles, C. S., Sinha, G. P., Soler, D., Spiegel, R., Stephenson, J. B. P., Tacke, U., Tan, T. Y., Till, M., Tolmie, J. L., Tomlin, P., Vagnarelli, F., Valente, E. M., Van Coster, R. N. A., Van der Aa, N., Vanderver, A., Vles, J. S. H., Voit, T., Wassmer, E., Weschke, B., Whiteford, M. L., Willemsen, M. A. A., Zankl, A., Zuberi, S. M., Orcesi, S., Fazzi, E., Lebon, P. & Crow, Y. J., 2007, In: American Journal of Human Genetics. 81, 4, p. 713-25 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Phenotype 100%
  • Aicardi-Goutières syndrome 100%
  • Aicardi-Goutières Syndrome 100%
  • TREX1 40%

• Microcephalin coordinates mitosis in the syncytial Drosophila embryo

  Brunk, K., Vernay, B., Griffith, E., Reynolds, N. L., Strutt, D., Ingham, P. W. & Jackson, A. P., 2007, In: Journal of Cell Science. 120, Pt 20, p. 3578-88 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Mitosis 100%
  • Drosophila 100%
  • Microcephalin 100%
  • Cell Cycle 75%
  • Centrosome 50%
• 2006

  Microcephalin: a causal link between impaired damage response signalling and microcephaly

  O'Driscoll, M., Jackson, A. P. & Jeggo, P. A., 2006, In: Cell Cycle. 5, 20, p. 2339-44 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Telangiectasia 100%
  • Ataxia 100%
  • Microcephaly 100%
  • Microcephalin 100%
  • Cell Line 28%