Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Cale, Catherine M."'
Autor:
Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.
Publikováno v:
In The American Journal of Human Genetics 2 February 2017 100(2):281-296
Autor:
Bucciol, Giorgia, Moens, Leen, Ogishi, Masato, Rinchai, Darawan, Matuozzo, Daniela, Momenilandi, Mana, Kerrouche, Nacim, Cale, Catherine M, Treffeisen, Elsa R, Al Salamah, Mohammad, Al-Saud, Bandar K, Lachaux, Alain, Duclaux-Loras, Remi, Meignien, Marie, Bousfiha, Aziz, Benhsaien, Ibtihal, Shcherbina, Anna, Roppelt, Anna, COVID Human Genetic Effort, Gothe, Florian, Houhou-Fidouh, Nadhira, Hackett, Scott J, Bartnikas, Lisa M, Maciag, Michelle C, Alosaimi, Mohammed F, Chou, Janet, Mohammed, Reem W, Freij, Bishara J, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Béziat, Vivien, Zhang, Qian, Duncan, Christopher Ja, Hambleton, Sophie, Casanova, Jean-Laurent, Meyts, Isabelle
Publikováno v:
Journal of Clinical Investigation.
STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients' cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea498a7d264d01cd381c23afc2f98a56
https://doi.org/10.1172/jci168321
https://doi.org/10.1172/jci168321
Autor:
Lee, Pamela P., Woodbine, Lisa, Gilmour, Kimberly C., Bibi, Shahnaz, Cale, Catherine M., Amrolia, Persis J., Veys, Paul A., Davies, E. Graham, Jeggo, Penny A., Jones, Alison
Publikováno v:
In Clinical Immunology December 2013 149(3) Part B:464-474
Autor:
Cole, Theresa, Pearce, Mark S., Cant, Andrew J., Cale, Catherine M., Goldblatt, David, Gennery, Andrew R.
Publikováno v:
In The Journal of Allergy and Clinical Immunology November 2013 132(5):1150-1155
Autor:
Writzl, Karin, Cale, Catherine M., Pierce, Christine M., Wilson, Louise C., Hennekam, Raoul C.M.
Publikováno v:
In European Journal of Medical Genetics 2007 50(5):338-345
Autor:
Rao, Kanchan, Amrolia, Persis J., Jones, Alison, Cale, Catherine M., Naik, Paru, King, Doug, Davies, Graham E., Gaspar, H. Bobby, Veys, Paul A.
Publikováno v:
In Blood 15 January 2005 105(2):879-885
Publikováno v:
In Journal of Heart and Lung Transplantation 2005 24(9):1284-1288
Akademický článek
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Autor:
Battersby, Alexandra C., Braggins, Helen, Pearce, Mark S., Cale, Catherine M., Burns, Siobhan O., Hackett, Scott, Hughes, Stephen, Barge, Dawn, Goldblatt, David, Gennery, Andrew R.
Publikováno v:
In The Journal of Allergy and Clinical Immunology August 2017 140(2):628-630
Autor:
Shahni, Rojeen, Cale, Catherine M., Anderson, Glenn, Osellame, Laura D., Hambleton, Sophie, Jacques, Thomas S., Wedatilake, Yehani, Taanman, Jan-Willem, Chan, Emma, Qasim, Waseem, Plagnol, Vincent, Chalasani, Annapurna, Duchen, Michael R., Gilmour, Kimberly C., Rahman, Shamima
Publikováno v:
Brain
See Dasgupta et al. (doi:10.1093/awv237) for a scientific commentary on this article. Shahni et al. identify a novel mutation in STAT2, which encodes a component of the JAK-STAT cytokine signalling pathway, in three patients with severe neurological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66fcb0c8c42c117c7d010546481c7213
http://europepmc.org/articles/PMC5808733
http://europepmc.org/articles/PMC5808733