Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Effect of TBCD and its regulatory interactor Arl2 on tubulin and microtubule integrity
Tian, Guoling, Thomas, Simi, Cowan, Nicholas J.
Published in Cytoskeleton (Hoboken, N.J.) (01.11.2010)
Published in Cytoskeleton (Hoboken, N.J.) (01.11.2010)
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Journal Article
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway
Tian, Guoling, Jaglin, Xavier H., Keays, David A., Francis, Fiona, Chelly, Jamel, Cowan, Nicholas J.
Published in Human molecular genetics (15.09.2010)
Published in Human molecular genetics (15.09.2010)
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Journal Article
Regulation of Androgen Receptor-Mediated Transcription by RPB5 Binding Protein URI/RMP
Mita, Paolo, Savas, Jeffrey N., Djouder, Nabil, Yates, John R., Ha, Susan, Ruoff, Rachel, Schafler, Eric D., Nwachukwu, Jerome C., Tanese, Naoko, Cowan, Nicholas J., Zavadil, Jiri, Garabedian, Michael J., Logan, Susan K.
Published in Molecular and Cellular Biology (01.09.2011)
Published in Molecular and Cellular Biology (01.09.2011)
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Journal Article
Prefoldin-Nascent Chain Complexes in the Folding of Cytoskeletal Proteins
Hansen, William J., Cowan, Nicholas J., Welch, William J.
Published in The Journal of cell biology (19.04.1999)
Published in The Journal of cell biology (19.04.1999)
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Journal Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Journal Article
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos
Feng, Ruizhi, Yan, Zheng, Li, Bin, Yu, Min, Sang, Qing, Tian, Guoling, Xu, Yao, Chen, Biaobang, Qu, Ronggui, Sun, Zhaogui, Sun, Xiaoxi, Jin, Li, He, Lin, Kuang, Yanping, Cowan, Nicholas J, Wang, Lei
Published in Journal of medical genetics (01.10.2016)
Published in Journal of medical genetics (01.10.2016)
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Journal Article
Functional Overlap between Retinitis Pigmentosa 2 Protein and the Tubulin-specific Chaperone Cofactor C
Bartolini, Francesca, Bhamidipati, Arunashree, Thomas, Scott, Schwahn, Uwe, Lewis, Sally A., Cowan, Nicholas J.
Published in The Journal of biological chemistry (26.04.2002)
Published in The Journal of biological chemistry (26.04.2002)
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Journal Article
Tubulin-Specific Chaperones: Components of a Molecular Machine That Assembles the α/β Heterodimer
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Reference
Book Chapter
Journal Article
Cryptic Out-of-Frame Translational Initiation of TBCE Rescues Tubulin Formation in Compound Heterozygous HRD
Tian, Guoling, Huang, Melissa C., Parvari, Ruti, Diaz, George A., Cowan, Nicholas J.
Published in Proceedings of the National Academy of Sciences - PNAS (05.09.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (05.09.2006)
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Journal Article
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway
Edvardson, Shimon, Tian, Guoling, Cullen, Hayley, Vanyai, Hannah, Ngo, Linh, Bhat, Saiuj, Aran, Adi, Daana, Muhannad, Da'amseh, Naderah, Abu-Libdeh, Bassam, Cowan, Nicholas J, Heng, Julian Ik-Tsen, Elpeleg, Orly
Published in Human molecular genetics (01.11.2016)
Published in Human molecular genetics (01.11.2016)
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Journal Article
Cytosolic Arl2 Is Complexed with Cofactor D and Protein Phosphatase 2A
Shern, Jack F., Sharer, J.Daniel, Pallas, David C., Bartolini, Francesca, Cowan, Nicholas J., Reed, Matthew S., Pohl, Jan, Kahn, Richard A.
Published in The Journal of biological chemistry (17.10.2003)
Published in The Journal of biological chemistry (17.10.2003)
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Journal Article
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
Luscan, Romain, Mechaussier, Sabrina, Paul, Antoine, Tian, Guoling, Gérard, Xavier, Defoort-Dellhemmes, Sabine, Loundon, Natalie, Audo, Isabelle, Bonnin, Sophie, LeGargasson, Jean-François, Dumont, Julien, Goudin, Nicolas, Garfa-Traoré, Meriem, Bras, Marc, Pouliet, Aurore, Bessières, Bettina, Boddaert, Nathalie, Sahel, José-Alain, Lyonnet, Stanislas, Kaplan, Josseline, Cowan, Nicholas J., Rozet, Jean-Michel, Marlin, Sandrine, Perrault, Isabelle
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Journal Article
Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans
Keays, David A., Tian, Guoling, Poirier, Karine, Huang, Guo-Jen, Siebold, Christian, Cleak, James, Oliver, Peter L., Fray, Martin, Harvey, Robert J., Molnár, Zoltán, Piñon, Maria C., Dear, Neil, Valdar, William, Brown, Steve D.M., Davies, Kay E., Rawlins, J. Nicholas P., Cowan, Nicholas J., Nolan, Patrick, Chelly, Jamel, Flint, Jonathan
Published in Cell (12.01.2007)
Published in Cell (12.01.2007)
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Journal Article
The influence of tillage on N2O fluxes from an intensively managed grazed grassland in Scotland
Cowan, Nicholas J, Levy, Peter E, Reay, David S, Skiba, Ute M
Published in Biogeosciences (29.08.2016)
Published in Biogeosciences (29.08.2016)
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Journal Article
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability
Breuss, Martin W, Nguyen, Thai, Srivatsan, Anjana, Leca, Ines, Tian, Guoling, Fritz, Tanja, Hansen, Andi H, Musaev, Damir, McEvoy-Venneri, Jennifer, James, Kiely N, Rosti, Rasim O, Scott, Eric, Tan, Uner, Kolodner, Richard D, Cowan, Nicholas J, Keays, David A, Gleeson, Joseph G
Published in Human molecular genetics (15.01.2017)
Published in Human molecular genetics (15.01.2017)
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Journal Article
Restoring understory and riparian areas in oil palm plantations does not increase greenhouse gas fluxes
Drewer, Julia, Tarigan, Ribka Sionita, Banin, Lindsay F., White, Stella, Raine, Elizabeth, Luke, Sarah H., Turner, Edgar C., Skiba, Ute, Cowan, Nicholas J., Dewi, Jassica Prajna, Advento, Andreas Dwi, Aryawan, Anak Agung Ketut, Caliman, Jean-Pierre, Pujianto
Published in Frontiers in Forests and Global Change (22.05.2024)
Published in Frontiers in Forests and Global Change (22.05.2024)
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