نتائج البحث - Tian, Guoling

Tubulin-specific Chaperones: Components of a Molecular Machine that Assembles the α/β Heterodimer حسب Tian, Guoling, Cowan, Nicholas J.

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Effect of TBCD and its Regulatory Interactor Arl2 on Tubulin and Microtubule Integrity حسب Tian, Guoling, Thomas, Simi, Cowan, Nicholas J.

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MUTATIONS AFFECTING β-TUBULIN FOLDING AND DEGRADATION حسب Wang, Yaqing, Tian, Guoling, Cowan, Nicholas J., Cabral, Fernando

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Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD حسب Tian, Guoling, Huang, Melissa C., Parvari, Ruti, Diaz, George A., Cowan, Nicholas J.

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A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB حسب Tian, Guoling, Kong, Xiang-Peng, Jaglin, Xavier H., Chelly, Jamel, Keays, David, Cowan, Nicholas J.

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway حسب Tian, Guoling, Jaglin, Xavier H., Keays, David A., Francis, Fiona, Chelly, Jamel, Cowan, Nicholas J.

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Tubulin Subunits Exist in an Activated Conformational State Generated and Maintained by Protein Cofactors حسب Tian, Guoling, Lewis, Sally A., Feierbach, Becket, Stearns, Timothy, Rommelaere, Heidi, Ampe, Christophe, Cowan, Nicholas J.

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A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A حسب Tian, Guoling, Cristancho, Ana G., Dubbs, Holly A., Liu, Grant T., Cowan, Nicholas J., Goldberg, Ethan M.

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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway حسب 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

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Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos حسب 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

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Neuronal Inactivity Co-opts LTP Machinery to Drive Potassium Channel Splicing and Homeostatic Spike Widening حسب Li, Boxing, Suutari, Benjamin S., Sun, Simón(e) D., Luo, Zhengyi, Wei, Chuanchuan, Chenouard, Nicolas, Mandelberg, Nataniel J., Zhang, Guoan, Wamsley, Brie, Tian, Guoling, Sanchez, Sandrine, You, Sikun, Huang, Lianyan, Neubert, Thomas A., Fishell, Gordon, Tsien, Richard W.

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Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability حسب 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.

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Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans حسب 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

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease حسب 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

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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria حسب Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, Fallet-Bianco, Catherine, Phan-Dinh-Tuy, Françoise, Kong, Xiang Peng, Bomont, Pascale, Castelnau-Ptakhine, Laëtitia, Odent, Sylvie, Loget, Philippe, Kossorotoff, Manoelle, Snoeck, Irina, Plessis, Ghislaine, Parent, Philippe, Beldjord, Cherif, Cardoso, Carlos, Represa, Alfonso, Flint, Jonathan, Keays, David Anthony, Cowan, Nicholas Justin, Chelly, Jamel

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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities حسب Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Marie-Laure, Passemard, Sandrine, Verloes, Alain, Gressens, Pierre, Xie, Yunli, Robson, Kathryn J.H., Rani, Deepa Selvi, Thangaraj, Kumarasamy, Clausen, Tim, Chelly, Jamel, Cowan, Nicholas Justin, Keays, David Anthony

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Mutations in TUBB8 cause human oocyte meiotic arrest حسب Feng, Ruizhi, Sang, Qing, Kuang, Yanping, Sun, Xiaoxi, Yan, Zheng, Zhang, Shaozhen, Shi, Juanzi, Tian, Guoling, Luchniak, Anna, Fukuda, Yusuke, Li, Bin, Yu, Min, Chen, Junling, Xu, Yao, Guo, Luo, Qu, Ronggui, Wang, Xueqian, Sun, Zhaogui, Liu, Miao, Shi, Huijuan, Wang, Hongyan, Feng, Yi, Shao, Ruijin, Chai, Renjie, Li, Qiaoli, Xing, Qinghe, Zhang, Rui, Nogales, Eva, Jin, Li, He, Lin, Gupta, Mohan L., Cowan, Nicholas J., Wang, Lei

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly حسب Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, SaintPierre, Benjamin, 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

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Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations حسب Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R., Pagnamenta, Alistair, Wenninger-Weinzier, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Giudice, Ennio Del, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A., Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A., Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M., Cooper, Gregory M., Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J., Keays, David Anthony

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