Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Adeline Fluteau"'
1
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions
Autor: Andrea McEwan, Megha Chandrashekhar, Olga Murina, Maryou B. Lambros, Valerie G. Brunton, Daniel Durocher, Angelo Agathanggelou, Martin A M Reijns, Jason Moffat, Tatjana Stankovic, Michal Zimmermann, Stephane Angers, Traver Hart, Adeline Fluteau, Michael Aregger, Paul Moss, Morwenna Muir, Wei Yuan, Rachel C. Challis, Matthew Clarke, Andrew P. Jackson, Shankara Paneesha, Johann S. de Bono, Žygimantė Tarnauskaitė
Publikováno v: Zimmermann, M, Murina, O, Reijns, M A M, Agathanggelou, A, Challis, R, Tarnauskaite, Z, Muir, M, Fluteau, A, Aregger, M, McEwan, A, Yuan, W, Clarke, M, Lambros, M B, Paneesha, S, Moss, P, Chandrashekhar, M, Angers, S, Moffat, J, Brunton, V G, Hart, T, de Bono, J, Stankovic, T, Jackson, A P & Durocher, D 2019, ' CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions ', Nature, vol. 559, no. 7713, pp. 285–289 . https://doi.org/10.1038/s41586-018-0291-z
The observation that BRCA1- and BRCA2-deficient cells are sensitive to inhibitors of poly(ADP–ribose) polymerase (PARP) has spurred the development of cancer therapies that use these inhibitors to target deficiencies in homologous recombination. Th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c31459b4e5a8c1168b596ef85f70c55
https://doi.org/10.1038/s41586-018-0291-z
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2
DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency
Autor: Clare V, Logan, Jennie E, Murray, David A, Parry, Andrea, Robertson, Roberto, Bellelli, Žygimantė, Tarnauskaitė, Rachel, Challis, Louise, Cleal, Valerie, Borel, Adeline, Fluteau, Javier, Santoyo-Lopez, Tim, Aitman, Inês, Barroso, Donald, Basel, Louise S, Bicknell, Himanshu, Goel, Hao, Hu, Chad, Huff, Michele, Hutchison, Caroline, Joyce, Rachel, Knox, Amy E, Lacroix, Sylvie, Langlois, Shawn, McCandless, Julie, McCarrier, Kay A, Metcalfe, Rose, Morrissey, Nuala, Murphy, Irène, Netchine, Susan M, O'Connell, Ann Haskins, Olney, Nandina, Paria, Jill A, Rosenfeld, Mark, Sherlock, Erin, Syverson, Perrin C, White, Carol, Wise, Yao, Yu, Margaret, Zacharin, Indraneel, Banerjee, Martin, Reijns, Michael B, Bober, Robert K, Semple, Simon J, Boulton, Jonathan J, Rios, Nicola, Williams
Publikováno v: Logan, C, Murray, J, Parry, D, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Borel, V, Fluteau, A, Santoyo-Lopez, J, SGP Consortium,, Aitman, T, Barroso, I, Basel, D, Bicknell, L, Goel, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Langlois, S, McCandless, S, McCarrier, J, Morrissey, R, Murphy, N, Netchine, I, O'Connell, S M, Olney, A H, Paria, N, Rosenfeld, J A, Sherlock, M, Syverson, E, White, P, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, M B, Semple, R, Boulton, S J, Rios, J J, Jackson, A & Robertson, A 2018, ' DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1038-1044 . https://doi.org/10.1016/j.ajhg.2018.10.024
American Journal of Human Genetics
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5251341d775fe05227776575d532ec23
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5
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4
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Autor: Lynn Greenhalgh, Janine Altmüller, Bernd Wollnik, Gökhan Yigit, Michael B. Bober, Sarah McGlasson, Andrew N. Blackford, Louise S. Bicknell, Matthew E. Hurles, Holger Thiele, Peter Nürnberg, Carol Anne Martin, Karen J. Mackenzie, Kaalak Reddy, Andrea Leitch, Grant S. Stewart, Margaret E. Harley, Luciana Chessa, Adeline Fluteau, Stephen P. Jackson, Martin R. Higgs, Olga Murina, Mihail Halachev, Martin A M Reijns, Simone Sabbioneda, Mahmoud Salim, Anastasia Zlatanou, Nursel Elcioglu, Andrew P. Jackson, Mohamad Maghnie
Publikováno v: Nature genetics
Harley, M E, Murina, O, Leitch, A, Higgs, M, Bicknell, L S, Yigit, G, Blackford, A, Zlatanou, A, Mackenzie, K J, Reddy, K, Halachev, M, McGlasson, S, Reijns, M A M, Fluteau, A, Martin, C-A, Sabbioneda, S, Elcioglu, N H, Altmuller, J, Thiele, H, Greenhalgh, L, Chessa, L, Maghnie, M, Salim, M, Bober, M B, Nurnberg, P, Jackson, S P, Hurles, M E, Wollnik, B, Stewart, G S & Jackson, A P 2016, ' TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism ', Nature Genetics, vol. 48, no. 1, pp. 36-43 . https://doi.org/10.1038/ng.3451
DNA lesions encountered by replicative polymerases threaten genome stability and cell cycleprogression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitinligase, in patients with microcephalic primordial dwarfism/S
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42cde41bd5505ee27973df43b1ce1a0d
https://doi.org/10.1038/ng.3451
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6
cGAS surveillance of micronuclei links genome instability to innate immunity
Autor: Ann P. Wheeler, Hannah Sutcliffe, Karen J. Mackenzie, Marcin Nowotny, Andrew P. Jackson, Carol Anne Martin, Adeline Fluteau, Andrea Leitch, Nelly Olova, Martin A M Reijns, Jacqueline K. Rainger, Nick Gilbert, Daniel J. Simpson, Tamir Chandra, Ruby T. Osborn, Paula Carroll, Olga Murina
Publikováno v: Mackenzie, K J, Carroll, P, Martin, C-A, Murina, O, Fluteau, A, Simpson, D J, Olova, N, Sutcliffe, H, Rainger, J K, Leitch, A, Osborn, R T, Wheeler, A P, Nowotny, M, Gilbert, N, Chandra, T, Reijns, M A M & Jackson, A P 2017, ' cGAS surveillance of micronuclei links genome instability to innate immunity ', Nature, vol. 548, no. 7668, pp. 461–465 . https://doi.org/10.1038/nature23449
Nature
DNA is strictly compartmentalized within the nucleus to prevent autoimmunity; despite this, cyclic GMP-AMP synthase (cGAS), a cytosolic sensor of double-stranded DNA, is activated in autoinflammatory disorders and by DNA damage. Precisely how cellula
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ebda9dc1d4221df7152fae797cdd93
https://hdl.handle.net/20.500.11820/31a6d610-03c0-4889-bfc5-e1eae98e4907
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7
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Autor: Shelagh Joss, Gabriela Soares, Alan J. Quigley, Carol Wise, Paula Carroll, Carol Anne Martin, Andrew P. Jackson, Charlotte Keith, Jennie E. Murray, Angela L. Duker, Andrea Leitch, Ahmed E. Fetit, Philippe Gautier, Michael B. Bober, Paola Vagnarelli, Louise S. Bicknell, Emma Hall, Shubha R. Phadke, João Silva, Mihail Halachev, Adeline Fluteau, Karen J. Mackenzie, Andrew J. Wood
Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Wood, A J & Vagnarelli, P & Jackson, A P 2016, ' Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis ', Genes and Development, vol. 30, no. 19, pp. 2158-2172 . https://doi.org/10.1101/gad.286351.116
Correction to Martin et al. available at: Genes & Development 30 (19): 2158 (http://genesdev.cshlp.org/content/31/9/953.full.pdf+html). Compaction of chromosomes is essential for accurate segregation of the genome duringmitosis. In vertebrates, two c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0933962cc08024e9a7453613c6870fcc
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8
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response
Autor: Graeme R. Grimes, Erika Abbondati, Martin A M Reijns, Ailsa Revuelta, Adeline Fluteau, Robert E. Hill, Žygimantė Tarnauskaitė, Paul S. Devenney, Rachel E. Rigby, Karen J. Mackenzie, Fiona Kilanowski, Andrew P. Jackson, Björn Rabe, Laura A. Lettice, Flora L. Dix, Kaalak Reddy, Paula Carroll
Publikováno v: Mackenzie, K J, Carroll, P, Lettice, L, Tarnauskaite, Z, Reddy, K, Dix, F, Revuelta, A, Abbondati, E, Rigby, R E, Rabe, B, Kilanowski, F, Grimes, G R, Fluteau, A, Devenney, P S, Hill, R E, Reijns, M A M & Jackson, A P 2016, ' Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response ', EMBO Journal, vol. 35, no. 8, pp. 831-844 . https://doi.org/10.15252/embj.201593339
Aicardi–Goutières syndrome (AGS) provides a monogenic model of nucleic acid‐mediated inflammation relevant to the pathogenesis of systemic autoimmunity. Mutations that impair ribonuclease (RNase) H2 enzyme function are the most frequent cause of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe67d0068015571f7a2094305894249
https://www.pure.ed.ac.uk/ws/files/24272499/Ribonclease_H2_mutationas_induce_a_cGAS_STING_dependent_innate_immune_response.pdf
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10
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
Autor: Duncan Sproul, Lourdes Ibáñez, Robin C. Allshire, Joseph A. Marsh, Valérie Cormier-Daire, Stephen P. Robertson, Patricia C. Heyn, Andrew Dauber, Juri Rappsilber, Adeline Fluteau, Francesca Taglini, Martin A M Reijns, Giorgia Sebastiani, Andrew P. Jackson, Rachel C. Challis, Carol Anne Martin, Vivian Hwa, David A. Parry, Chin-To Fong, Fiona Kilanowski, Tatsiana Auchynnikava, Kate Gibson, Clare V. Logan
Publikováno v: Nature genetics
Heyn, P, Logan, C V, Fluteau, A, Challis, R C, Auchynnikava, T, Martin, C-A, Marsh, J A, Taglini, F, Kilanowski, F, Parry, D, Cormier-Daire, V, Fong, C-T, Gibson, K, Hwa, V, Ibanez, L, Robertson, S P, Sebastiani, G, Rappsilber, J, Allshire, R C, Reijns, M A M, Dauber, A, Sproul, D & Jackson, A P 2019, ' Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions ', Nature Genetics, vol. 51, no. 1, pp. 96–105 . https://doi.org/10.1038/s41588-018-0274-x
NATURE GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes the DNA methyltransferase DNMT3A. These mutations cause microcephalic dwarf
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0801846e9bff0009ec87b0dff0eb8b2f
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