cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Uggenti, Carolina, Lepelley, Alice, Depp, Marine, Badrock, Andrew P., Rodero, Mathieu P., El-Daher, Marie-Thérèse, Rice, Gillian I., Dhir, Somdutta, Wheeler, Ann P., Dhir, Ashish, Albawardi, Waad, Frémond, Marie-Louise, Seabra, Luis, Doig, Jennifer, Blair, Natalie, Martin-Niclos, Maria José, Della Mina, Erika, Rubio-Roldán, Alejandro, García-Pérez, Jose L., Sproul, Duncan, Rehwinkel, Jan, Hertzog, Jonny, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Baruteau, Julien, Brochard, Karine, Buckley, Jonathan, Cavallera, Vanessa, Cereda, Cristina, De Waele, Liesbeth M. H., Dobbie, Angus, Doummar, Diane, Elmslie, Frances, Koch-Hogrebe, Margarete, Kumar, Ram, Lamb, Kate, Livingston, John H., Majumdar, Anirban, Lorenço, Charles Marques, Orcesi, Simona, Peudenier, Sylviane, Rostasy, Kevin, Salmon, Caroline A., Scott, Christiaan, Tonduti, Davide, Touati, Guy, Valente, Marialuisa, van der Linden, Hélio, Van Esch, Hilde, Vermelle, Marie, Webb, Kate, Jackson, Andrew P., Reijns, Martin A. M., Gilbert, Nick, Crow, Yanick J.
Published in Nature genetics (01.12.2020)
Published in Nature genetics (01.12.2020)
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Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair
Ghodgaonkar, Medini Manohar, Lazzaro, Federico, Olivera-Pimentel, Maite, Artola-Borán, Mariela, Cejka, Petr, Reijns, Martin A., Jackson, Andrew P., Plevani, Paolo, Muzi-Falconi, Marco, Jiricny, Josef
Published in Molecular cell (09.05.2013)
Published in Molecular cell (09.05.2013)
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Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response
Mackenzie, Karen J, Carroll, Paula, Lettice, Laura, Tarnauskaitė, Žygimantė, Reddy, Kaalak, Dix, Flora, Revuelta, Ailsa, Abbondati, Erika, Rigby, Rachel E, Rabe, Björn, Kilanowski, Fiona, Grimes, Graeme, Fluteau, Adeline, Devenney, Paul S, Hill, Robert E, Reijns, Martin AM, Jackson, Andrew P
Published in The EMBO journal (15.04.2016)
Published in The EMBO journal (15.04.2016)
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Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development
Reijns, Martin A.M., Rabe, Björn, Rigby, Rachel E., Mill, Pleasantine, Astell, Katy R., Lettice, Laura A., Boyle, Shelagh, Leitch, Andrea, Keighren, Margaret, Kilanowski, Fiona, Devenney, Paul S., Sexton, David, Grimes, Graeme, Holt, Ian J., Hill, Robert E., Taylor, Martin S., Lawson, Kirstie A., Dorin, Julia R., Jackson, Andrew P.
Published in Cell (25.05.2012)
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Lagging-strand replication shapes the mutational landscape of the genome
Reijns, Martin A. M., Kemp, Harriet, Ding, James, Marion de Procé, Sophie, Jackson, Andrew P., Taylor, Martin S.
Published in Nature (London) (26.02.2015)
Published in Nature (London) (26.02.2015)
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Köhler, Sebastian, Doelken, Sandra C, Mungall, Christopher J, Bauer, Sebastian, Firth, Helen V, Bailleul-Forestier, Isabelle, Black, Graeme C M, Brown, Danielle L, Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R, Eppig, Janan T, Jackson, Andrew P, Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A, Jähn, Johanna, Jackson, Laird G, Kelly, Anne M, Ledbetter, David H, Mansour, Sahar, Martin, Christa L, Moss, Celia, Mumford, Andrew, Ouwehand, Willem H, Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H, Sisodiya, Sanjay, Van Vooren, Steven, Wapner, Ronald J, Wilkie, Andrew O M, Wright, Caroline F, Vulto-van Silfhout, Anneke T, de Leeuw, Nicole, de Vries, Bert B A, Washingthon, Nicole L, Smith, Cynthia L, Westerfield, Monte, Schofield, Paul, Ruef, Barbara J, Gkoutos, Georgios V, Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N
Published in Nucleic acids research (01.01.2014)
Published in Nucleic acids research (01.01.2014)
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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A. M., Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P.
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
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Kinetoplastid Phylogenomics Reveals the Evolutionary Innovations Associated with the Origins of Parasitism
Jackson, Andrew P., Otto, Thomas D., Aslett, Martin, Armstrong, Stuart D., Bringaud, Frederic, Schlacht, Alexander, Hartley, Catherine, Sanders, Mandy, Wastling, Jonathan M., Dacks, Joel B., Acosta-Serrano, Alvaro, Field, Mark C., Ginger, Michael L., Berriman, Matthew
Published in Current biology (25.01.2016)
Published in Current biology (25.01.2016)
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Transcriptome, proteome and draft genome of Euglena gracilis
Ebenezer, ThankGod E, Zoltner, Martin, Burrell, Alana, Nenarokova, Anna, Novák Vanclová, Anna M G, Prasad, Binod, Soukal, Petr, Santana-Molina, Carlos, O'Neill, Ellis, Nankissoor, Nerissa N, Vadakedath, Nithya, Daiker, Viktor, Obado, Samson, Silva-Pereira, Sara, Jackson, Andrew P, Devos, Damien P, Lukeš, Julius, Lebert, Michael, Vaughan, Sue, Hampl, Vladimίr, Carrington, Mark, Ginger, Michael L, Dacks, Joel B, Kelly, Steven, Field, Mark C
Published in BMC biology (07.02.2019)
Published in BMC biology (07.02.2019)
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DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain
Zhang, Jing, Bellani, Marina A., James, Ryan C., Pokharel, Durga, Zhang, Yongqing, Reynolds, John J., McNee, Gavin S., Jackson, Andrew P., Stewart, Grant S., Seidman, Michael M.
Published in Nature communications (07.08.2020)
Published in Nature communications (07.08.2020)
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Daire, Valérie Cormier, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P
Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
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Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature
Kavanagh, David, McGlasson, Sarah, Jury, Alexa, Williams, Jac, Scolding, Neil, Bellamy, Chris, Gunther, Claudia, Ritchie, Diane, Gale, Daniel P., Kanwar, Yashpal S., Challis, Rachel, Buist, Holly, Overell, James, Weller, Belinda, Flossmann, Oliver, Blunden, Mark, Meyer, Eric P., Krucker, Thomas, Evans, Stephen J.W., Campbell, Iain L., Jackson, Andrew P., Chandran, Siddharthan, Hunt, David P.J.
Published in Blood (15.12.2016)
Published in Blood (15.12.2016)
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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Vivaxin genes encode highly immunogenic, non-variant antigens on the Trypanosoma vivax cell-surface
Romero-Ramirez, Alessandra, Casas-Sánchez, Aitor, Autheman, Delphine, Duffy, Craig W, Brandt, Cordelia, Clare, Simon, Harcourt, Katherine, André, Marcos Rogério, de Almeida Castilho Neto, Kayo José Garcia, Teixeira, Marta M. G, Machado, Rosangela Zacharias, Coombes, Janine, Flynn, Robin J, Wright, Gavin J, Jackson, Andrew P
Published in PLoS neglected tropical diseases (21.09.2022)
Published in PLoS neglected tropical diseases (21.09.2022)
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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Published in Genetics in medicine (01.05.2016)
Published in Genetics in medicine (01.05.2016)
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Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Hiller, Björn, Hoppe, Anja, Haase, Christa, Hiller, Christina, Schubert, Nadja, Müller, Werner, Reijns, Martin A M, Jackson, Andrew P, Kunkel, Thomas A, Wenzel, Jörg, Behrendt, Rayk, Roers, Axel
Published in Cancer research (Chicago, Ill.) (15.10.2018)
Published in Cancer research (Chicago, Ill.) (15.10.2018)
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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Martin, Carol-Anne, Murray, Jennie E, Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J, Halachev, Mihail, Fetit, Ahmed E, Keith, Charlotte, Bicknell, Louise S, Fluteau, Adeline, Gautier, Philippe, Hall, Emma A, Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B, Duker, Angela, Wise, Carol A, Quigley, Alan J, Phadke, Shubha R, Wood, Andrew J, Vagnarelli, Paola, Jackson, Andrew P
Published in Genes & development (01.10.2016)
Published in Genes & development (01.10.2016)
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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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