Zobrazeno 1 - 10
of 15
pro vyhledávání: '"MESH: Ataxia Telangiectasia"'
Publikováno v:
Movement Disorders
Movement Disorders, Wiley, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, Wiley, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
International audience; alpha-Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor apraxia (AOA) type 2 (AOA2). More recently, slightly elevated A
Autor:
Felipe Suarez, Moussab Tatfi, Kenzo-Hugo Hillion, Emeline Perthame, Marie-Agnès Dillies, Olivier Hermine, Hervé Ménager
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases, 2021, 16 (1), pp.288. ⟨10.1186/s13023-021-01904-3⟩
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases, 2021, 16 (1), pp.288. ⟨10.1186/s13023-021-01904-3⟩
Background Epstein–Barr virus (EBV) targets B-cells where it establishes a latent infection. EBV can transform B-cells in vitro and is recognized as an oncogenic virus, especially in the setting of immune compromise. Indeed, immunodeficient patient
Autor:
Philippe Pérot, Hans D. Ochs, Bénédicte Neven, David Buchbinder, Jasjit Singh, Christine Bodemer, E.V. Deripapa, Louise E. Vaz, Despina Moshous, Fabian Hauck, Kathleen E. Sullivan, Christoph Klein, Anna Shcherbina, Michael H. Albert, Shahrzad Bakhtiar, Felipe Suarez, Anita Rack, Diane J. Nugent, Francisco A. Bonilla, Marc Eloit, Alfons Krol, Ludmila Perelygina, Mikko Seppänen
Publikováno v:
Journal of Clinical Immunology
Journal of Clinical Immunology, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
J Clin Immunol
Journal of Clinical Immunology, Springer Verlag, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
Journal of Clinical Immunology, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
J Clin Immunol
Journal of Clinical Immunology, Springer Verlag, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
International audience; The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef272ce9bd72e6295c2cb501554a6f4
http://hdl.handle.net/10138/299978
http://hdl.handle.net/10138/299978
Autor:
David G. Schatz, Iannis Aifantis, Panagiotis Ntziachristos, Mariann Micsinai, Joy M. H. Wang, Ludovic Deriano, Yuval Kluger, Jeffrey A. Jeddeloh, Elphège P. Nora, Matthew Rodesch, Julie Chaumeil, Yanhong Ji, Jane A. Skok
Publikováno v:
Cell Reports
Cell Reports, 2013, 3 (2), pp.359-70. ⟨10.1016/j.celrep.2013.01.024⟩
CELL REPORTS
Cell Reports, Vol 3, Iss 2, Pp 359-370 (2013)
Cell Reports, Elsevier Inc, 2013, 3 (2), pp.359-70. ⟨10.1016/j.celrep.2013.01.024⟩
Cell Reports, 2013, 3 (2), pp.359-70. ⟨10.1016/j.celrep.2013.01.024⟩
CELL REPORTS
Cell Reports, Vol 3, Iss 2, Pp 359-370 (2013)
Cell Reports, Elsevier Inc, 2013, 3 (2), pp.359-70. ⟨10.1016/j.celrep.2013.01.024⟩
International audience; V(D)J recombination is essential for generating a diverse array of B and T cell receptors that can recognize and combat foreign antigens. As with any recombination event, tight control is essential to prevent the occurrence of
Autor:
Agustin Barnadas, Harry Ostrer, Søren M. Bentzen, David Azria, Rebecca Elliott, C.A. Koch, John Yarnold, Petra Seibold, M. Molla, Christian Nicolaj Andreassen, Laura Fachal, Ana Vega, David P. Dearnaley, Emma Hall, Barry S. Rosenstein, Sarah L. Kerns, Michael Blackshaw, Piet Ost, Matthew Parliament, Marie Overgaard, Jamie A. Cesaretti, Catharine M L West, Teresa Ramón y Cajal, Michael Sia, Charlotte E. Coles, Orland Diez, Dirk De Ruysscher, Matthew R. Sydes, Jenny Chang-Claude, Antonio Gómez-Caamaño, Jan Alsner, Christopher J. Talbot, Maria J. Fuentes-Raspall, Odilia Popanda, Gillian C. Barnett, Jens Overgaard, Neil G. Burnet, Hubert Thierens, Leila Dorling, Sara Gutiérrez-Enríquez, R. Paul Symonds, Danny Vesprini, Alison M. Dunning, Kim De Ruyck
Publikováno v:
Radiotherapy and Oncology, 121(3), 431-439. Elsevier Ireland Ltd
Radiotherapy and Oncology
Radiotherapy and Oncology, Elsevier, 2016, 121 (3), pp.431-439. ⟨10.1016/j.radonc.2016.06.017⟩
RADIOTHERAPY AND ONCOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Andreassen, C N, Rosenstein, B S, Kerns, S L, Ostrer, H, De Ruysscher, D, Cesaretti, J A, Barnett, G C, Dunning, A M, Dorling, L, West, C M L, Burnet, N G, Elliott, R, Coles, C, Hall, E, Fachal, L, Vega, A, Gómez-Caamaño, A, Talbot, C J, Symonds, R P, De Ruyck, K, Thierens, H, Ost, P, Chang-Claude, J, Seibold, P, Popanda, O, Overgaard, M, Dearnaley, D, Sydes, M R, Azria, D, Koch, C A, Parliament, M, Blackshaw, M, Sia, M, Fuentes-Raspall, M J, Ramon Y Cajal, T, Barnadas, A, Vesprini, D, Gutiérrez-Enríquez, S, Mollà, M, Díez, O, Yarnold, J R, Overgaard, J, Bentzen, S M, Alsner, J & International Radiogenomics Consortium (RgC) 2016, ' Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients ', Radiotherapy and Oncology, vol. 121, no. 3, pp. 431-439 . https://doi.org/10.1016/j.radonc.2016.06.017
Andreassen, C N, Rosenstein, B S, Kerns, S L, Ostrer, H, De Ruysscher, D, Cesaretti, J A, Barnett, G C, Dunning, A M, Dorling, L, West, C M L, Burnet, N G, Elliott, R, Coles, C, Hall, E, Fachal, L, Vega, A, Gómez-Caamaño, A, Talbot, C J, Symonds, R P, De Ruyck, K, Thierens, H, Ost, P, Chang-Claude, J, Seibold, P, Popanda, O, Overgaard, M, Dearnaley, D, Sydes, M R, Azria, D, Koch, C A, Parliament, M, Blackshaw, M, Sia, M, Fuentes-Raspall, M J, Ramon Y Cajal, T, Barnadas, A, Vesprini, D, Gutiérrez-Enríquez, S, Mollà, M, Díez, O, Yarnold, J R, Overgaard, J, Bentzen, S M, Alsner, J & International Radiogenomics Consortium (RgC) 2016, ' Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients ', Radiotherapy & Oncology . https://doi.org/10.1016/j.radonc.2016.06.017
Radiotherapy and Oncology
Radiotherapy and Oncology, Elsevier, 2016, 121 (3), pp.431-439. ⟨10.1016/j.radonc.2016.06.017⟩
RADIOTHERAPY AND ONCOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Andreassen, C N, Rosenstein, B S, Kerns, S L, Ostrer, H, De Ruysscher, D, Cesaretti, J A, Barnett, G C, Dunning, A M, Dorling, L, West, C M L, Burnet, N G, Elliott, R, Coles, C, Hall, E, Fachal, L, Vega, A, Gómez-Caamaño, A, Talbot, C J, Symonds, R P, De Ruyck, K, Thierens, H, Ost, P, Chang-Claude, J, Seibold, P, Popanda, O, Overgaard, M, Dearnaley, D, Sydes, M R, Azria, D, Koch, C A, Parliament, M, Blackshaw, M, Sia, M, Fuentes-Raspall, M J, Ramon Y Cajal, T, Barnadas, A, Vesprini, D, Gutiérrez-Enríquez, S, Mollà, M, Díez, O, Yarnold, J R, Overgaard, J, Bentzen, S M, Alsner, J & International Radiogenomics Consortium (RgC) 2016, ' Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients ', Radiotherapy and Oncology, vol. 121, no. 3, pp. 431-439 . https://doi.org/10.1016/j.radonc.2016.06.017
Andreassen, C N, Rosenstein, B S, Kerns, S L, Ostrer, H, De Ruysscher, D, Cesaretti, J A, Barnett, G C, Dunning, A M, Dorling, L, West, C M L, Burnet, N G, Elliott, R, Coles, C, Hall, E, Fachal, L, Vega, A, Gómez-Caamaño, A, Talbot, C J, Symonds, R P, De Ruyck, K, Thierens, H, Ost, P, Chang-Claude, J, Seibold, P, Popanda, O, Overgaard, M, Dearnaley, D, Sydes, M R, Azria, D, Koch, C A, Parliament, M, Blackshaw, M, Sia, M, Fuentes-Raspall, M J, Ramon Y Cajal, T, Barnadas, A, Vesprini, D, Gutiérrez-Enríquez, S, Mollà, M, Díez, O, Yarnold, J R, Overgaard, J, Bentzen, S M, Alsner, J & International Radiogenomics Consortium (RgC) 2016, ' Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients ', Radiotherapy & Oncology . https://doi.org/10.1016/j.radonc.2016.06.017
Purpose: Several small studies have indicated that the ATM rsl 801516 SNP is associated with risk of normal tissue toxicity after radiotherapy. However, the findings have not been consistent. In order to test this SNP in a well-powered study, an indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed3c24daed41f38a52930d0eada05be2
https://europepmc.org/articles/PMC5559879/
https://europepmc.org/articles/PMC5559879/
Autor:
Yi-Fan Chou, Sandy Chang, Jane A. Skok, Marc Coussens, Ludovic Deriano, Alexander V. Alekseyenko, Asha S. Multani, David Roth, Julie Chaumeil
Publikováno v:
Nature
Nature, Nature Publishing Group, 2011, 471 (7336), pp.119-23. <10.1038/nature09755>
Nature, Nature Publishing Group, 2011, 471 (7336), pp.119-23. ⟨10.1038/nature09755⟩
Nature, Nature Publishing Group, 2011, 471 (7336), pp.119-23. <10.1038/nature09755>
Nature, Nature Publishing Group, 2011, 471 (7336), pp.119-23. ⟨10.1038/nature09755⟩
International audience; Misrepair of DNA double-strand breaks produced by the V(D)J recombinase (the RAG1/RAG2 proteins) at immunoglobulin (Ig) and T cell receptor (Tcr) loci has been implicated in pathogenesis of lymphoid malignancies in humans and
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2005, 14 (2), pp.307-18. ⟨10.1093/hmg/ddi027⟩
Human Molecular Genetics, Oxford University Press (OUP), 2005, 14 (2), pp.307-18. ⟨10.1093/hmg/ddi027⟩
International audience; Ten new patients with ataxia telangiectasia-like disorder (ATLD) from three unrelated Saudi Arabian families have been identified aged 5-37 representing the largest cohort of ATLD patients ever identified. They presented with
Autor:
Kai Lee Yap, Anthony Ting, Tiffany Siew Joo Lim, Vaidehi Krishnan, Etienne Schwob, Chee Seng Cheng, Léon Dirick, Hong Hwa Lim, Uttam Surana, San Ling Si-Hoe
Publikováno v:
Cell Cycle
Cell Cycle, Taylor & Francis, 2014, 6 (13), pp.1621-1630. ⟨10.4161/cc.6.13.4373⟩
ResearcherID
Cell Cycle, Taylor & Francis, 2014, 6 (13), pp.1621-1630. ⟨10.4161/cc.6.13.4373⟩
ResearcherID
International audience; DNA replication checkpoint is activated in response to replication stresses. It maintains the integrity of stalled replication forks and prevents premature segregation of largely unreplicated chromosomes. In budding yeast, Mec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac08ee66d5cf6a6e796354277e76585
https://hal.archives-ouvertes.fr/hal-03044284
https://hal.archives-ouvertes.fr/hal-03044284
Modernizing the Nonhomologous End-Joining Repertoire: Alternative and Classical NHEJ Share the Stage
Autor:
Ludovic Deriano, David Roth
Publikováno v:
Annual Review of Genetics
Annual Review of Genetics, 2013, 47 (1), pp.433-55. ⟨10.1146/annurev-genet-110711-155540⟩
Annual Review of Genetics, Annual Reviews, 2013, 47 (1), pp.433-55. ⟨10.1146/annurev-genet-110711-155540⟩
Annual Review of Genetics, 2013, 47 (1), pp.433-55. ⟨10.1146/annurev-genet-110711-155540⟩
Annual Review of Genetics, Annual Reviews, 2013, 47 (1), pp.433-55. ⟨10.1146/annurev-genet-110711-155540⟩
International audience; DNA double-strand breaks (DSBs) are common lesions that continually threaten genomic integrity. Failure to repair a DSB has deleterious consequences, including cell death. Misrepair is also fraught with danger, especially inap
Autor:
Panagiotis Ntziachristos, Ludovic Deriano, David Roth, Iannis Aifantis, Mariann Micsinai, Jane A. Skok, Yuval Kluger, Julie Chaumeil
Publikováno v:
Nature Communications
Nature Communications, 2013, 4, pp.2231. ⟨10.1038/ncomms3231⟩
Nature Communications, Nature Publishing Group, 2013, 4, pp.2231. ⟨10.1038/ncomms3231⟩
NATURE COMMUNICATIONS
Nature communications
Nature Communications, 2013, 4, pp.2231. ⟨10.1038/ncomms3231⟩
Nature Communications, Nature Publishing Group, 2013, 4, pp.2231. ⟨10.1038/ncomms3231⟩
NATURE COMMUNICATIONS
Nature communications
International audience; Tight control of antigen-receptor gene rearrangement is required to preserve genome integrity and prevent the occurrence of leukaemia and lymphoma. Nonetheless, mistakes can happen, leading to the generation of aberrant rearra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2495286ed26dbecf67d525e678232a3
https://hal-pasteur.archives-ouvertes.fr/pasteur-01471697/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-01471697/document