Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Kott, Esther, Legendre, Marie, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Montantin, Guy, Duquesnoy, Philippe, Piterboth, William, Amram, Daniel, Bassinet, Laurence, Beucher, Julie, Beydon, Nicole, Deneuville, Eric, Houdouin, Véronique, Journel, Hubert, Just, Jocelyne, Nathan, Nadia, Tamalet, Aline, Collot, Nathalie, Jeanson, Ludovic, Le Gouez, Morgane, Vallette, Benoit, Vojtek, Anne-Marie, Epaud, Ralph, Coste, André, Clement, Annick, Housset, Bruno, Louis, Bruno, Escudier, Estelle, Amselem, Serge
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Journal Article
BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression
Yu, Lei, Jearawiriyapaisarn, Natee, Lee, Mary P, Hosoya, Tomonori, Wu, Qingqing, Myers, Greggory, Lim, Kim-Chew, Kurita, Ryo, Nakamura, Yukio, Vojtek, Anne B, Rual, Jean-François, Engel, James Douglas
Published in Genes & development (01.12.2018)
Published in Genes & development (01.12.2018)
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Journal Article
Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
Duquesnoy, Philippe, Escudier, Estelle, Vincensini, Laetitia, Freshour, Judy, Bridoux, Anne-Marie, Coste, André, Deschildre, Antoine, de Blic, Jacques, Legendre, Marie, Montantin, Guy, Tenreiro, Henrique, Vojtek, Anne-Marie, Loussert, Céline, Clément, Annick, Escalier, Denise, Bastin, Philippe, Mitchell, David R., Amselem, Serge
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
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Journal Article
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
Papon, Jean-François, Bassinet, Laurence, Cariou-Patron, Gwenaëlle, Zerah-Lancner, Francoise, Vojtek, Anne-Marie, Blanchon, Sylvain, Crestani, Bruno, Amselem, Serge, Coste, Andre, Housset, Bruno, Escudier, Estelle, Louis, Bruno
Published in Orphanet journal of rare diseases (11.10.2012)
Published in Orphanet journal of rare diseases (11.10.2012)
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Polycistronic RNA polymerase II expression vectors for RNA interference based on BIC/miR-155
Chung, Kwan-Ho, Hart, Christopher C., Al-Bassam, Sarmad, Avery, Adam, Taylor, Jennifer, Patel, Paresh D., Vojtek, Anne B., Turner, David L.
Published in Nucleic acids research (13.04.2006)
Published in Nucleic acids research (13.04.2006)
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Journal Article
common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
Duriez, Bénédicte, Duquesnoy, Philippe, Escudier, Estelle, Bridoux, Anne-Marie, Escalier, Denise, Rayet, Isabelle, Marcos, Elisabeth, Vojtek, Anne-Marie, Bercher, Jean-François, Amselem, Serge
Published in Proceedings of the National Academy of Sciences - PNAS (27.02.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (27.02.2007)
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Journal Article
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Blanchon, Sylvain, Legendre, Marie, Copin, Bruno, Duquesnoy, Philippe, Montantin, Guy, Kott, Esther, Dastot, Florence, Jeanson, Ludovic, Cachanado, Marine, Rousseau, Alexandra, Papon, Jean François, Beydon, Nicole, Brouard, Jacques, Crestani, Bruno, Deschildre, Antoine, Désir, Julie, Dollfus, Hélène, Leheup, Bruno, Tamalet, Aline, Thumerelle, Caroline, Vojtek, Anne-Marie, Escalier, Denise, Coste, André, de Blic, Jacques, Clément, Annick, Escudier, Estelle, Amselem, Serge
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Journal Article
POSH is an intracellular signal transducer for the axon outgrowth inhibitor Nogo66
Dickson, Heather M, Zurawski, Jonathan, Zhang, Huanqing, Turner, David L, Vojtek, Anne B
Published in The Journal of neuroscience (06.10.2010)
Published in The Journal of neuroscience (06.10.2010)
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Journal Article
Akt2 Negatively Regulates Assembly of the POSH-MLK-JNK Signaling Complex
Figueroa, Claudia, Tarras, Samantha, Taylor, Jennifer, Vojtek, Anne B
Published in The Journal of biological chemistry (28.11.2003)
Published in The Journal of biological chemistry (28.11.2003)
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Journal Article
Akt Regulates Basic Helix-Loop-Helix Transcription Factor-Coactivator Complex Formation and Activity during Neuronal Differentiation
Vojtek, Anne B., Taylor, Jennifer, DeRuiter, Stacy L., Yu, Jenn-Yah, Figueroa, Claudia, Kwok, Roland P. S., Turner, David L.
Published in Molecular and Cellular Biology (01.07.2003)
Published in Molecular and Cellular Biology (01.07.2003)
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Journal Article
Simultaneous Inhibition of GSK3α and GSK3β Using Hairpin siRNA Expression Vectors
Yu, Jenn-Yah, Taylor, Jennifer, DeRuiter, Stacy L, Vojtek, Anne B, Turner, David L
Published in Molecular therapy (01.02.2003)
Published in Molecular therapy (01.02.2003)
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Journal Article
The scaffold protein POSH regulates axon outgrowth
Taylor, Jennifer, Chung, Kwan-Ho, Figueroa, Claudia, Zurawski, Jonathan, Dickson, Heather M, Brace, E J, Avery, Adam W, Turner, David L, Vojtek, Anne B
Published in Molecular biology of the cell (01.12.2008)
Published in Molecular biology of the cell (01.12.2008)
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Journal Article
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape
Hou, Peng, Estrada, Lourdes, Kinley, Andrew W., Parsons, J. Thomas, Vojtek, Anne B., Gorski, Jerome L.
Published in Human molecular genetics (15.08.2003)
Published in Human molecular genetics (15.08.2003)
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