Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jaclyn S. Goldstein"'
Autor:
Hui-Ting Chou, Luise Apelt, Daniel P. Farrell, Susan Roehl White, Jonathan Woodsmith, Vladimir Svetlov, Jaclyn S. Goldstein, Andrew R. Nager, Zixuan Li, Jean Muller, Hélène Dollfus, Evgeny Nudler, Ulrich Stelzl, Frank DiMaio, Thomas Walz, Maxence V. Nachury
representative structures of all domain models that were used when modeling the domains of the BBsome. Structures are built using Rosetta abinitio, or Rosetta CM.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::015870f3ac42d73d9d9aecf23ab2b47e
Autor:
Nadège Gigot, Anne Dieux, Yannis Duffourd, Bernard Aral, Lydie Burglen, Bérénice Doray, Olivier Rosnet, Alice Goldenberg, Martijn A. Huynen, Oliver E. Blacque, Brunella Franco, André Mégarbané, Diane Doummar, Ernie M.H.F. Bongers, Anne Fargeot-Espaliat, Clarisse Baumann, Judith St-Onge, Daniel Birnbaum, Sophie Saunier, Thibaut Eguether, Jean-François Deleuze, Estelle Lopez, Dominique Gaillard, Geneviève Pierquin, Shubha R. Phadke, Michel R. Leroux, Rachel H. Giles, Tania Attié-Bitach, Jaclyn S. Goldstein, Isabelle Desguerres, Elisabeth Steichen-Gersdorf, Brigitte Gilbert-Dussardier, Manuela Morleo, Jesús Argente, Jean Baptiste Rivière, Gregory J. Pazour, Christel Thauvin-Robinet, Julien Thevenon, Albert David, Maxence V. Nachury, Laurence Faivre, Philippe Loget, Véronique Chevrier, Bruno Reversade, Laurence Jego, Ange Line Bruel, Vicente Herranz-Pérez, Laurent Pasquier, Colin A. Johnson, John B. Wallingford, Valérie Cormier-Daire, Inusha Panigrahi
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3936f44f5b3a91a3dfb197d651c272
https://doi.org/10.1136/jmedgenet-2016-104436
https://doi.org/10.1136/jmedgenet-2016-104436
Autor:
Evgeny Nudler, Vladimir Svetlov, Hélène Dollfus, Ulrich Stelzl, Thomas Walz, Daniel P. Farrell, Susan Roehl White, Jonathan Woodsmith, Luise Apelt, Frank DiMaio, Jaclyn S. Goldstein, Jean Muller, Zixuan Li, Maxence V. Nachury, Andrew R. Nager, Hui-Ting Chou
Publikováno v:
Structure
The unique membrane composition of cilia is maintained by a diffusion barrier at the transition zone that is breached when the BBSome escorts signaling receptors out of cilia. Understanding how the BBSome removes proteins from cilia has been hampered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65b86b96f4b7e069376bd70d1ba6c0a2
https://doi.org/10.1016/j.str.2019.06.006
https://doi.org/10.1016/j.str.2019.06.006
Autor:
José Manuel García-Verdugo, Vicente Herranz-Pérez, Fan Ye, Didier Portran, Jaclyn S. Goldstein, Maxence V. Nachury, Andrew R. Nager
Publikováno v:
Cell
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Nager, AR; Goldstein, JS; Herranz-Perez, V; Portran, D; Ye, F; Manuel Garcia-Verdugo, J; et al.(2017). An Actin Network Dispatches Ciliary GPCRs into Extracellular Vesicles to Modulate Signaling. CELL, 168(1-2), 252-+. doi: 10.1016/j.cell.2016.11.036. UCSF: Retrieved from: http://www.escholarship.org/uc/item/63q845dh
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Nager, AR; Goldstein, JS; Herranz-Perez, V; Portran, D; Ye, F; Manuel Garcia-Verdugo, J; et al.(2017). An Actin Network Dispatches Ciliary GPCRs into Extracellular Vesicles to Modulate Signaling. CELL, 168(1-2), 252-+. doi: 10.1016/j.cell.2016.11.036. UCSF: Retrieved from: http://www.escholarship.org/uc/item/63q845dh
Signaling receptors dynamically exit cilia upon activation of signaling pathways such as Hedgehog. Here, we find that when activated G protein-coupled receptors (GPCRs) fail to undergo BBSome-mediated retrieval from cilia back into the cell, these GP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2194888a865b857fb4d98ed42c43082f
https://europepmc.org/articles/PMC5235987/
https://europepmc.org/articles/PMC5235987/