Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eric D. Boyden"'
Autor:
Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovée, Twinkal C Pansuriya, Sérgio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P Kozakewich, James R Kasser, Jon G Seidman, Kyle C Kurek, Matthew L Warman
Publikováno v:
PLoS Genetics, Vol 7, Iss 4, p e1002050 (2011)
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EX
Externí odkaz:
https://doaj.org/article/5bdd2086ded74319acfef993578bc155
Autor:
Sebastian Kalamajski, H. Rosemarie Davidson, A. Belinda Campos-Xavier, Eugênia Ribeiro Valadares, Goranka Tanackovich, Andrea Superti-Furga, Christine Hall, Daniel H. Cohn, Massimiliano Rossi, Generoso Andria, R. Curtis Rogers, Shiro Ikegawa, Diana Ballhausen, André Mégarbané, Michael D. Briggs, Sheila Unger, David L. Rimoin, Claire L. Hartley, Rainer König, Richard H Scott, Luisa Bonafé, Ralph S. Lachman, Eric D. Boyden, John F. Bateman, Pierre-Simon Jouk, Geert Mortier, Philippe Suarez, Trevor L. Cameron, Matthew L. Warman, Hirotake Sawada, Gen Nishimura
Publikováno v:
American journal of human genetics
The American journal of human genetics
The American journal of human genetics
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17693705418a6f70813311e158a09507
https://doi.org/10.1016/j.ajhg.2011.10.016
https://doi.org/10.1016/j.ajhg.2011.10.016
Autor:
Jürgen Brojatsch, Yee Guide Yeung, Eric D. Boyden, E. Richard Stanley, Adel M. Nour, Laura Santambrogio
Publikováno v:
Infection and Immunity. 77:1262-1271
Multiple microbial components trigger the formation of an inflammasome complex that contains pathogenspecific nucleotide oligomerization and binding domain (NOD)-like receptors (NLRs), caspase-1, and in some cases the scaffolding protein ASC. The NLR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40e9fa211f282cb1059c29543875ea66
https://doi.org/10.1128/iai.01032-08
https://doi.org/10.1128/iai.01032-08
Autor:
William F. Dietrich, Eric D. Boyden
Publikováno v:
Nature Genetics. 38:240-244
The pathogenesis of Bacillus anthracis, the bacterium that causes anthrax, depends on secretion of three factors that combine to form two bipartite toxins. Edema toxin, consisting of protective antigen (PA) and edema factor (EF), causes the edema ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84d9c6fa4b5a9c86354e592c8ec924a
https://doi.org/10.1038/ng1724
https://doi.org/10.1038/ng1724
Autor:
Matthew L. Warman, Luisa Bonafé, Eric D. Boyden, Belinda Campos-Xavier, Kyle C. Kurek, Elena Pedrini, Judith V.M.G. Bovée, Ravi Savarirayan, Livia Garavelli, Harry P.W. Kozakewich, Elena Andreucci, Jon G. Seidman, Wim Wuyts, Ingrid A. Holm, Bianca M. Regazzoni, Valérie Cormier-Daire, James R. Kasser, Andrea Superti-Furga, Sérgio B. Sousa, Margot E. Bowen, Miikka Vikkula, Mei Zhu, Caroline Pottinger, Shiro Ikegawa, Twinkal C. Pansuriya, Toshihiko Ogino, Luca Sangiorgi, Akinori Sakai
Publikováno v:
PLoS genetics
PLoS Genetics, Vol. 7, no.4, p. e1002050 (2011)
PLoS Genetics, 7(4)
PLoS Genetics, Vol 7, Iss 4, p e1002050 (2011)
Plos Genetics, vol. 7, no. 4, pp. e1002050
PLoS Genetics
PLoS Genetics, Vol. 7, no.4, p. e1002050 (2011)
PLoS Genetics, 7(4)
PLoS Genetics, Vol 7, Iss 4, p e1002050 (2011)
Plos Genetics, vol. 7, no. 4, pp. e1002050
PLoS Genetics
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c0f0133e1890dc07f17fb10b658ad98
https://hdl.handle.net/10067/896710151162165141
https://hdl.handle.net/10067/896710151162165141
Autor:
Luisa Bonafé, David R. Beier, Mary Prysak, Stanley F. Nelson, Shiro Ikegawa, Daniel H. Cohn, Vincent Funari, Minh Hong, Andrew D. Bolton, Lei Lu, Tom Kirchhausen, Andrea Superti-Furga, Noelle D. Dwyer, Eric D. Boyden, Barry Merriman, Jennifer L. Moran, Deborah Krakow, Danielle K. Manning, Patrick Smits, Matthew L. Warman
Publikováno v:
The New England journal of medicine, vol. 362, no. 3, pp. 206-216
BACKGROUND Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease. METHODS We screened mutagenized mice and observed a neonatal lethal sk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::364bdb8c03a896be0c2f6681e78a809e
https://pubmed.ncbi.nlm.nih.gov/20089978
https://pubmed.ncbi.nlm.nih.gov/20089978