Zobrazeno 1 - 10
of 11
pro vyhledávání: '"631/208/514/2254"'
Autor:
Greene, Daniel, Genomics England Research Consortium, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud PJ, Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D, Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire LS, Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L, Morisaki, Hiroko, Ahmed, Zubair M, Birdsey, Graeme M, Freson, Kathleen, Mumford, Andrew, Turro, Ernest
Publikováno v:
Nature Medicine, 29, 3, pp. 679-688
Nature Medicine, 29, 679-688
Nature medicine
Nature Medicine, 29, 679-688
Nature medicine
Acknowledgements: This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a03cc9c8c028ea67cd79c4f4fd8438
Autor:
Kuchenbaecker, Karoline, Gilly, Arthur, Suveges, Daniel, Southam, Lorraine, Giannakopoulou, Olga, Kilian, Britt, Tsafantakis, Emmanouil, Karaleftheri, Maria, Farmaki, Aliki-Eleni, Gurdasani, Deepti, Kundu, Kousik, Sandhu, Manjinder S, Danesh, John, Butterworth, Adam, Barroso, In��s, Dedoussis, George, Zeggini, Eleftheria
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Sci. Rep. 12:1131 (2022)
Scientific Reports
Sci. Rep. 12:1131 (2022)
Scientific Reports
Haematological traits are linked to cardiovascular, metabolic, infectious and immune disorders, as well as cancer. Here, we examine the role of genetic variation in shaping haematological traits in two isolated Mediterranean populations. Using whole-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb097072bbca46faaa5b73c7e1fa5fc
Autor:
Vasileios Kargas, Mélanie Parisot, Norberto Escudero-Urquijo, Alexis Bertrand, Christine Bellanné-Chantelot, Jean Donadieu, Mohammed Zarhrate, Patrick Nitschke, Cécile Masson, Laëtitia Kermasson, Beatriz Goyenechea, Sophie Kaltenbach, Alan J. Warren, David Traynor, Stefano Fumagalli, Li Jin, Blandine Beaupain, Bruno Reversade, Ahmed Z. Boukerrou, Peter J. Bond, M. Rossmann, Olivier Alibeu, Jean-Alain Martignoles, Christine Bole-Feysot, Jonathan Moreil, Shengjiang Tan, François Delhommeau, Patrick Revy, Kong Boo Phua, Alexandre Faille, Aurore Pouliet, Christine Hilcenko, Frédéric Tores, Isabelle Radford-Weiss, Ai Ling Koh, Isabelle Callebaut, Jean-Pierre de Villartay
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature communications, 12(1):5044. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature communications, 12(1):5044. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in Shwachman-Diamond syndrome (SDS), a le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a0a029184f8fcc8469d2a5ac081086
https://hal.archives-ouvertes.fr/hal-03366072
https://hal.archives-ouvertes.fr/hal-03366072
Autor:
Inger Greve Alsos, David Bravo Nogues, Adriana Alberti, Jialu Cao, Youri Lammers, Thorfinn Sand Korneliussen, Yubin Zhang, Alexandra Rouillard, Eske Willerslev, Antonio Fernandez-Guerra, John Inge Svendsen, Jeffrey T. Rasic, David W. Beilman, Patrick Wincker, Per Möller, Fernando Racimo, Christoph Dockter, Alexei Tikhonov, Marie Kristine Føreid Merkel, Anna Cherezova, Julie Esdale, Lasse Vinner, Daniel Money, Duane G. Froese, Bianca De Sanctis, Anthony Ruter, Hannah L. Owens, Hugh McColl, Richard Durbin, Galina Gusarova, David J. Meltzer, Neil R. Edwards, James Haile, Nicolaj K. Larsen, Yingchun Xing, Kurt H. Kjær, Jan Mangerud, Mary E. Edwards, Kristian K. Kjeldsen, Mikkel Winther Pedersen, Birgitte Skadhauge, Carsten Rahbek, Grigory Fedorov, Eric Coissac, Ludovic Orlando, Anders A. Bjørk, Y. L. Wang, Philip B. Holden, Ana Prohaska
Publikováno v:
Nature
Nature, Nature Publishing Group, 2021, 598 (7882), pp.634-640. ⟨10.1038/s41586-021-04016-x⟩
Wang, Y, Pedersen, M W, Alsos, I G, De Sanctis, B, Racimo, F, Prohaska, A, Coissac, E, Owens, H L, Merkel, M K F, Fernandez-Guerra, A, Rouillard, A, Lammers, Y, Alberti, A, Denoeud, F, Money, D, Ruter, A H, McColl, H, Larsen, N K, Cherezova, A A, Edwards, M E, Fedorov, G B, Haile, J, Orlando, L, Vinner, L, Korneliussen, T S, Beilman, D W, Bjørk, A A, Cao, J, Dockter, C, Esdale, J, Gusarova, G, Kjeldsen, K K, Mangerud, J, Rasic, J T, Skadhauge, B, Svendsen, J I, Tikhonov, A, Wincker, P, Xing, Y, Zhang, Y, Froese, D G, Rahbek, C, Nogues, D B, Holden, P B, Edwards, N R, Durbin, R, Meltzer, D J, Kjær, K H, Möller, P & Willerslev, E 2021, ' Late Quaternary dynamics of Arctic biota from ancient environmental genomics ', Nature . https://doi.org/10.1038/s41586-021-04016-x
Nature, 2021, 598 (7882), pp.634-640. ⟨10.1038/s41586-021-04016-x⟩
Nature, Nature Publishing Group, 2021, 598 (7882), pp.634-640. ⟨10.1038/s41586-021-04016-x⟩
Wang, Y, Pedersen, M W, Alsos, I G, De Sanctis, B, Racimo, F, Prohaska, A, Coissac, E, Owens, H L, Merkel, M K F, Fernandez-Guerra, A, Rouillard, A, Lammers, Y, Alberti, A, Denoeud, F, Money, D, Ruter, A H, McColl, H, Larsen, N K, Cherezova, A A, Edwards, M E, Fedorov, G B, Haile, J, Orlando, L, Vinner, L, Korneliussen, T S, Beilman, D W, Bjørk, A A, Cao, J, Dockter, C, Esdale, J, Gusarova, G, Kjeldsen, K K, Mangerud, J, Rasic, J T, Skadhauge, B, Svendsen, J I, Tikhonov, A, Wincker, P, Xing, Y, Zhang, Y, Froese, D G, Rahbek, C, Nogues, D B, Holden, P B, Edwards, N R, Durbin, R, Meltzer, D J, Kjær, K H, Möller, P & Willerslev, E 2021, ' Late Quaternary dynamics of Arctic biota from ancient environmental genomics ', Nature . https://doi.org/10.1038/s41586-021-04016-x
Nature, 2021, 598 (7882), pp.634-640. ⟨10.1038/s41586-021-04016-x⟩
Acknowledgements: Acknowledgements: We thank D. H. Mann for his detailed and constructive comments; and T. Ager, J. Austin, T. B. Brand, A. Cooper, S. Funder, M. T. P. Gilbert, T. Jørgensen, N. J. Korsgaard, S. Liu, M. Meldgaard, P. V. S. Olsen, M.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2467087f8d377a71f0ada76ad45f01c7
https://hdl.handle.net/10037/23026
https://hdl.handle.net/10037/23026
Autor:
Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Van Der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-De Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van De Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal musc
Autor:
Jordan Ashworth, Steve Baker, Tran My Phuc, Carlijn Bogaardt, Guy E. Thwaites, Ngo Tri Tue, Mark E. J. Woolhouse
Publikováno v:
Scientific Data
Scientific Data, Vol 6, Iss 1, Pp 1-9 (2019)
Woolhouse, M, Ashworth, J, Bogaardt, C, Tue, N T, Baker, S, Thwaites, G & Phuc, T M 2019, ' Sample descriptors linked to metagenomic sequencing data from human and animal enteric samples from Vietnam ', Scientific Data, vol. 6, no. 1, pp. 202 . https://doi.org/10.1038/s41597-019-0215-2
Scientific Data, Vol 6, Iss 1, Pp 1-9 (2019)
Woolhouse, M, Ashworth, J, Bogaardt, C, Tue, N T, Baker, S, Thwaites, G & Phuc, T M 2019, ' Sample descriptors linked to metagenomic sequencing data from human and animal enteric samples from Vietnam ', Scientific Data, vol. 6, no. 1, pp. 202 . https://doi.org/10.1038/s41597-019-0215-2
There is still limited information on the diversity of viruses co-circulating in humans and animals. Here, we report data obtained from a large field collection of enteric samples taken from humans, pigs, rodents and other mammal hosts in Vietnam bet
Autor:
Grace McMacken, Judith Cossins, Seena Vengalil, Robert McFarland, Charu Deshpande, Rita Horvath, Astrid Pechmann, Helen Roper, Sunitha Balaraju, Robert W. Taylor, Saraswati Nashi, Nalini Atchayaram, Janbernd Kirschner, Kiran Polavarapu, David Beeson, Steven Laurie, Ana Töpf, Niranjan Prakash Mahajan, Veeramani Preethish Kumar, Ines A. Barbosa, Hanns Lochmüller
Publikováno v:
European Journal of Human Genetics
Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f20bae1015e38441624b4a45e35f05
https://www.repository.cam.ac.uk/handle/1810/310287
https://www.repository.cam.ac.uk/handle/1810/310287
Autor:
Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38a723c28be4202188c1e7c32db14993
Autor:
Wang, Yucheng, Pedersen, Mikkel Winther, Alsos, Inger Greve, De Sanctis, Bianca, Racimo, Fernando, Prohaska, Ana, Coissac, Eric, Owens, Hannah Lois, Merkel, Marie Kristine F��reid, Fernandez-Guerra, Antonio, Rouillard, Alexandra, Lammers, Youri, Alberti, Adriana, Denoeud, France, Money, Daniel, Ruter, Anthony H, McColl, Hugh, Larsen, Nicolaj Krog, Cherezova, Anna A, Edwards, Mary E, Fedorov, Grigory B, Haile, James, Orlando, Ludovic, Vinner, Lasse, Korneliussen, Thorfinn Sand, Beilman, David W, Bj��rk, Anders A, Cao, Jialu, Dockter, Christoph, Esdale, Julie, Gusarova, Galina, Kjeldsen, Kristian K, Mangerud, Jan, Rasic, Jeffrey T, Skadhauge, Birgitte, Svendsen, John Inge, Tikhonov, Alexei, Wincker, Patrick, Xing, Yingchun, Zhang, Yubin, Froese, Duane G, Rahbek, Carsten, Nogues, David Bravo, Holden, Philip B, Edwards, Neil R, Durbin, Richard, Meltzer, David J, Kj��r, Kurt H, M��ller, Per, Willerslev, Eske
During the last glacial-interglacial cycle, Arctic biotas experienced substantial climatic changes, yet the nature, extent and rate of their responses are not fully understood1-8. Here we report a large-scale environmental DNA metagenomic study of an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76ba09ec552fd93960caeb907d82afa8
Autor:
Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, De Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in Shwachman-Diamond syndrome (SDS), a le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::773dbe7725b9633ea56329c5d1a7f221