Результати пошуку - Tian, Guoling
- Показ 1 - 19 результатів із 19
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MUTATIONS AFFECTING β-TUBULIN FOLDING AND DEGRADATION за авторством Wang, Yaqing, Tian, Guoling, Cowan, Nicholas J., Cabral, Fernando
Опубліковано 2006Текст -
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A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB за авторством Tian, Guoling, Kong, Xiang-Peng, Jaglin, Xavier H., Chelly, Jamel, Keays, David, Cowan, Nicholas J.
Опубліковано 2008Текст -
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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway за авторством Tian, Guoling, Jaglin, Xavier H., Keays, David A., Francis, Fiona, Chelly, Jamel, Cowan, Nicholas J.
Опубліковано 2010Текст -
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Tubulin Subunits Exist in an Activated Conformational State Generated and Maintained by Protein Cofactors за авторством Tian, Guoling, Lewis, Sally A., Feierbach, Becket, Stearns, Timothy, Rommelaere, Heidi, Ampe, Christophe, Cowan, Nicholas J.
Опубліковано 1997Текст -
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A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A за авторством Tian, Guoling, Cristancho, Ana G., Dubbs, Holly A., Liu, Grant T., Cowan, Nicholas J., Goldberg, Ethan M.
Опубліковано 2016Текст -
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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway за авторством 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
Опубліковано 2016Текст -
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Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos за авторством 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
Опубліковано 2016Текст -
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Neuronal Inactivity Co-opts LTP Machinery to Drive Potassium Channel Splicing and Homeostatic Spike Widening за авторством 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.
Опубліковано 2020Текст -
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Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability за авторством 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.
Опубліковано 2017Текст -
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Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans за авторством 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
Опубліковано 2007Текст -
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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease за авторством 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
Опубліковано 2017Текст -
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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria за авторством 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
Опубліковано 2009Текст -
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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities за авторством 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
Опубліковано 2012Текст -
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Mutations in TUBB8 cause human oocyte meiotic arrest за авторством 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
Опубліковано 2016Текст -
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly за авторством 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
Опубліковано 2013Текст -
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Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations за авторством 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
Опубліковано 2018Текст