@article{MartratMaxwellTominagaetal.2011, author = {Martrat, Griselda and Maxwell, Christopher A. and Tominaga, Emiko and Porta-de-la-Riva, Montserrat and Bonifaci, N{\´u}ria and G{\´o}mez-Bald{\´o}, Laia and Bogliolo, Massimo and L{\´a}zaro, Conxi and Blanco, Ignacio and Brunet, Joan and Neveling, Kornelia and et al,}, title = {Exploring the link between MORF4L1 and risk of breast cancer}, series = {Breast Cancer Research}, volume = {13}, journal = {Breast Cancer Research}, number = {R40}, doi = {10.1186/bcr2862}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-169119}, pages = {1-14}, year = {2011}, abstract = {Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.92 and 0.72, P2df = 0.76 and 0.07, respectively. Conclusions: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.}, language = {en} } @article{BousquetFarrellCrooksetal.2016, author = {Bousquet, J. and Farrell, J. and Crooks, G. and Hellings, P. and Bel, E. H. and Bewick, M. and Chavannes, N. H. and Correia de Sousa, J. and Cruz, A. A. and Haahtela, T. and Joos, G. and Khaltaev, N. and Malva, J. and Muraro, A. and Nogues, M. and Palkonen, S. and Pedersen, S. and Robalo-Cordeiro, C. and Samolinski, B. and Strandberg, T. and Valiulis, A. and Yorgancioglu, A. and Zuberbier, T. and Bedbrook, A. and Aberer, W. and Adachi, M. and Agusti, A. and Akdis, C. A. and Akdis, M. and Ankri, J. and Alonso, A. and Annesi-Maesano, I. and Ansotegui, I. J. and Anto, J. M. and Arnavielhe, S. and Arshad, H. and Bai, C. and Baiardini, I. and Bachert, C. and Baigenzhin, A. K. and Barbara, C. and Bateman, E. D. and Begh{\´e}, B. and Ben Kheder, A. and Bennoor, K. S. and Benson, M. and Bergmann, K. C. and Bieber, T. and Bindslev-Jensen, C. and Bjermer, L. and Blain, H. and Blasi, F. and Boner, A. L. and Bonini, M. and Bonini, S. and Bosnic-Anticevitch, S. and Boulet, L. P. and Bourret, R. and Bousquet, P. J. and Braido, F. and Briggs, A. H. and Brightling, C. E. and Brozek, J. and Buhl, R. and Burney, P. G. and Bush, A. and Caballero-Fonseca, F. and Caimmi, D. and Calderon, M. A. and Calverley, P. M. and Camargos, P. A. M. and Canonica, G. W. and Camuzat, T. and Carlsen, K. H. and Carr, W. and Carriazo, A. and Casale, T. and Cepeda Sarabia, A. M. and Chatzi, L. and Chen, Y. Z. and Chiron, R. and Chkhartishvili, E. and Chuchalin, A. G. and Chung, K. F. and Ciprandi, G. and Cirule, I. and Cox, L. and Costa, D. J. and Custovic, A. and Dahl, R. and Dahlen, S. E. and Darsow, U. and De Carlo, G. and De Blay, F. and Dedeu, T. and Deleanu, D. and De Manuel Keenoy, E. and Demoly, P. and Denburg, J. A. and Devillier, P. and Didier, A. and Dinh-Xuan, A. T. and Djukanovic, R. and Dokic, D. and Douagui, H. and Dray, G. and Dubakiene, R. and Durham, S. R. and Dykewicz, M. S. and El-Gamal, Y. and Emuzyte, R. and Fabbri, L. M. and Fletcher, M. and Fiocchi, A. and Fink Wagner, A. and Fonseca, J. and Fokkens, W. J. and Forastiere, F. and Frith, P. and Gaga, M. and Gamkrelidze, A. and Garces, J. and Garcia-Aymerich, J. and Gemicioğlu, B. and Gereda, J. E. and Gonz{\´a}lez Diaz, S. and Gotua, M. and Grisle, I. and Grouse, L. and Gutter, Z. and Guzm{\´a}n, M. A. and Heaney, L. G. and Hellquist-Dahl, B. and Henderson, D. and Hendry, A. and Heinrich, J. and Heve, D. and Horak, F. and Hourihane, J. O'. B. and Howarth, P. and Humbert, M. and Hyland, M. E. and Illario, M. and Ivancevich, J. C. and Jardim, J. R. and Jares, E. J. and Jeandel, C. and Jenkins, C. and Johnston, S. L. and Jonquet, O. and Julge, K. and Jung, K. S. and Just, J. and Kaidashev, I. and Kaitov, M. R. and Kalayci, O. and Kalyoncu, A. F. and Keil, T. and Keith, P. K. and Klimek, L. and Koffi N'Goran, B. and Kolek, V. and Koppelman, G. H. and Kowalski, M. L. and Kull, I. and Kuna, P. and Kvedariene, V. and Lambrecht, B. and Lau, S. and Larenas‑Linnemann, D. and Laune, D. and Le, L. T. T. and Lieberman, P. and Lipworth, B. and Li, J. and Lodrup Carlsen, K. and Louis, R. and MacNee, W. and Magard, Y. and Magnan, A. and Mahboub, B. and Mair, A. and Majer, I. and Makela, M. J. and Manning, P. and Mara, S. and Marshall, G. D. and Masjedi, M. R. and Matignon, P. and Maurer, M. and Mavale‑Manuel, S. and Mel{\´e}n, E. and Melo‑Gomes, E. and Meltzer, E. O. and Menzies‑Gow, A. and Merk, H. and Michel, J. P. and Miculinic, N. and Mihaltan, F. and Milenkovic, B. and Mohammad, G. M. Y. and Molimard, M. and Momas, I. and Montilla‑Santana, A. and Morais‑Almeida, M. and Morgan, M. and M{\"o}sges, R. and Mullol, J. and Nafti, S. and Namazova‑Baranova, L. and Naclerio, R. and Neou, A. and Neffen, H. and Nekam, K. and Niggemann, B. and Ninot, G. and Nyembue, T. D. and O'Hehir, R. E. and Ohta, K. and Okamoto, Y. and Okubo, K. and Ouedraogo, S. and Paggiaro, P. and Pali‑Sch{\"o}ll, I. and Panzner, P. and Papadopoulos, N. and Papi, A. and Park, H. S. and Passalacqua, G. and Pavord, I. and Pawankar, R. and Pengelly, R. and Pfaar, O. and Picard, R. and Pigearias, B. and Pin, I. and Plavec, D. and Poethig, D. and Pohl, W. and Popov, T. A. and Portejoie, F. and Potter, P. and Postma, D. and Price, D. and Rabe, K. F. and Raciborski, F. and Radier Pontal, F. and Repka‑Ramirez, S. and Reitamo, S. and Rennard, S. and Rodenas, F. and Roberts, J. and Roca, J. and Rodriguez Ma{\~n}as, L. and et al,}, title = {Scaling up strategies of the chronic respiratory disease programme of the European Innovation Partnership on Active and Healthy Ageing (Action Plan B3: Area 5)}, series = {Clinical and Translational Allergy}, volume = {6}, journal = {Clinical and Translational Allergy}, number = {29}, doi = {10.1186/s13601-016-0116-9}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-166874}, year = {2016}, abstract = {Action Plan B3 of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) focuses on the integrated care of chronic diseases. Area 5 (Care Pathways) was initiated using chronic respiratory diseases as a model. The chronic respiratory disease action plan includes (1) AIRWAYS integrated care pathways (ICPs), (2) the joint initiative between the Reference site MACVIA-LR (Contre les MAladies Chroniques pour un VIeillissement Actif) and ARIA (Allergic Rhinitis and its Impact on Asthma), (3) Commitments for Action to the European Innovation Partnership on Active and Healthy Ageing and the AIRWAYS ICPs network. It is deployed in collaboration with the World Health Organization Global Alliance against Chronic Respiratory Diseases (GARD). The European Innovation Partnership on Active and Healthy Ageing has proposed a 5-step framework for developing an individual scaling up strategy: (1) what to scale up: (1-a) databases of good practices, (1-b) assessment of viability of the scaling up of good practices, (1-c) classification of good practices for local replication and (2) how to scale up: (2-a) facilitating partnerships for scaling up, (2-b) implementation of key success factors and lessons learnt, including emerging technologies for individualised and predictive medicine. This strategy has already been applied to the chronic respiratory disease action plan of the European Innovation Partnership on Active and Healthy Ageing.}, language = {en} } @article{AkshatAaboudAadetal.2019, author = {Akshat, Puri and Aaboud, M. and Aad, G. and Abbott, B. and Abdinov, O. and Abeloos, B. and Abhayasinghe, D. K. and Abidi, S. H. and Abou Zeid, O. S. and Abraham, N. L. and Abramowicz, H. and Abreu, H. and Abulaiti, Y. and Acharya, B. S. and Adachi, S. and Adam, L. and Adamczyk, L. and Adelman, J. and Adersberger, M. and Adiguzel, A. and Adye, T. and Affolder, A. A. and Afik, Y. and Agheorghiesei, C. and Aguilar-Saavedra, J. A. and Ahmadov, F. and Aiellil, G. and Akatsuka, S. and Akesson, T. P. A. and Akilli, E. and Akimov, A. V. and Alberghi, G. L. and Albert, J. and Albicocco, P. and Alconada Verzini, M. J. and Alderweireld, S. and Aleksa, M. and Aleksandrov, I. N. and Alexa, C. and Alexopoulos, T. and Alhroob, M. and Ali, B. and Alimonti, G. and Alison, J. and Andre, S. P. and Allaire, C. and Allbrooke, B. M. M. and Allen, B. W. and Allport, P. P. and Aloisio, A. and Alonso, A. and Alonso, F. and Alpigiani, C. and Alshehri, A. A. and Alstaty, M. I. and Alvarez, Gonzalez B. and Alvarez Piqueras, D. and Alviggi, M. G. and Amadio, B. T. and Amaral, Coutinho, Y. and Ambler, A. and Ambroz, L. and Amelung, C. and Amidei, D. and Amor Dos Santos, S. P. and Amoroso, S. and Amrouche, C. S. and Anastopoulos, C. and Ancu, L. S. and Andari, N. and Andeen, T. and Anders, C. F. and Anders, J. K. and Anderson, K. J. and Andreazza, A. and Andrei, V. and et al,}, title = {Measurement of angular and momentum distributions of charged particles within and around jets in Pb plus Pb and pp collisions at root s(NN)=5.02 TeV with ATLAS at the LHC : XXVIIth International Conference on Ultrarelativistic Nucleus-Nucleus Collisions (Quark Matter 2018)}, series = {Nuclear Physics A}, volume = {982}, journal = {Nuclear Physics A}, number = {2}, doi = {10.1016/j.nuclphysa.2018.09.021}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-224703}, pages = {177-179}, year = {2019}, abstract = {Studies of the fragmentation of jets into charged particles in heavy-ion collisions can help in understanding the mechanism of jet quenching by the hot and dense QCD matter created in such collisions, the quark-gluon plasma. These proceedings present a measurement of the angular distribution of charged particles around the jet axis in root s(NN) = 5.02 TeV Pb+Pb and pp collisions, done using the ATLAS detector at the LHC. The measurement is performed inside jets reconstructed with the anti-k(t) algorithm with radius parameter R = 0.4, and is extended to regions outside the jet cone. Results are presented as a function of Pb+Pb collision centrality, and both jet and charged-particle transverse momenta.}, language = {en} }