Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Autor: Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, Barnes, Daniel R, Robinson, Bridget A, Mace, Peter D, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Belhadj, Sami, Berger, Lieke, Blok, Marinus J, Boonen, Susanne E, Borde, Julika, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J, Daly, Mary B, Dandiker, Sita, Davidson, Rosemarie, De La Hoya, Miguel, De Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F, Ehrencrona, Hans, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A, Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hansen, Thomas VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, SWE-BRCA Investigators, KConFab Investigators, HEBON Investigators, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Martens, John WM, McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Osorio, Ana, Ott, Claus-Eric, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C, Rønlund, Karina, Rosenberg, Efraim H, Rossing, Maria, Schmutzler, Rita K, Shah, Payal D, Sharif, Saba, Sharma, Priyanka, Side, Lucy E, Simard, Jacques, Singer, Christian F, Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Trainer, Alison H, Tripathi, Vishakha, Tung, Nadine, Van Engelen, Klaartje, Van Rensburg, Elizabeth J, Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N, Wevers, Marike R, Chenevix-Trench, Georgia, Spurdle, Amanda B, Antoniou, Antonis C, Walker, Logan C

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444b9427cde6163d24f6adc68f9fbbc1

Cell-autonomous Hedgehog signaling controls Th17 polarization and pathogenicity

Autor: Hanna, Joachim, Beke, Flavio, O’Brien, Louise M, Kapeni, Chrysa, Chen, Hung-Chang, Carbonaro, Valentina, Kim, Alexander B, Kishore, Kamal, Adolph, Timon E, Skjoedt, Mikkel-Ole, Skjoedt, Karsten, De La Roche, Marc, De La Roche, Maike

Funder: This work was supported by Cancer Research UK (MdlR (A22257), FB, LMOB, CK, H-CC, VC); Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (MdlR (WT107609); LMOB); Gates Cambridge Trust (AK); JH is undertaking

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8665152b0eaa613da6a5696702d076a7
https://www.repository.cam.ac.uk/handle/1810/340132

DNA damage-induced transcription stress triggers the genome-wide degradation of promoter-bound Pol II

Autor: Steurer, Barbara, Janssens, Roel C, Geijer, Marit E, Aprile-Garcia, Fernando, Geverts, Bart, Theil, Arjan F, Hummel, Barbara, Van Royen, Martin E, Evers, Bastiaan, Bernards, René, Houtsmuller, Adriaan B, Sawarkar, Ritwick, Marteijn, Jurgen

Funder: Oncode Institute
The precise regulation of RNA Polymerase II (Pol II) transcription after genotoxic stress is crucial for proper execution of the DNA damage-induced stress response. While stalling of Pol II on transcription-blocking lesi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834a9b8389b04eed753b66e9255fd0fa
https://www.repository.cam.ac.uk/handle/1810/339497

Drosophila �� Heavy -Spectrin is required in polarized ensheathing glia that form a diffusion-barrier around the neuropil

Autor: Pogodalla, Nicole, Kranenburg, Holger, Rey, Simone, Rodrigues, Silke, Cardona, Albert, Kl��mbt, Christian

In the central nervous system (CNS), functional tasks are often allocated to distinct compartments. This is also evident in the Drosophila CNS where synapses and dendrites are clustered in distinct neuropil regions. The neuropil is separated from neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d74a9e5a0aa48dd8bed2b252086dc191

Targeting the latent human cytomegalovirus reservoir for T-cell-mediated killing with virus-specific nanobodies

Autor: Nick D. Bergkamp, Raimond Heukers, Eleanor Y. Lim, John Sinclair, Ian J. Groves, Elizabeth G. Elder, Mark R. Wills, Martine J. Smit, Timo W.M. De Groof

Publikováno v: Nature Communications
De Groof, T W M, Elder, E G, Lim, E Y, Heukers, R, Bergkamp, N D, Groves, I J, Wills, M, Sinclair, J H & Smit, M J 2021, ' Targeting the latent human cytomegalovirus reservoir for T-cell-mediated killing with virus-specific nanobodies ', Nature Communications, vol. 12, 4436, pp. 1-11 . https://doi.org/10.1038/s41467-021-24608-5
Nature Communications, 12:4436, 1-11. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)

Latent human cytomegalovirus (HCMV) infection is characterized by limited gene expression, making latent HCMV infections refractory to current treatments targeting viral replication. However, reactivation of latent HCMV in immunosuppressed solid orga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41bce55fe63f4b0e1c1b610e51ef9a6c
https://www.repository.cam.ac.uk/handle/1810/325364