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1.

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.

Am J Hum Genet; 101(6): 1006-1012, 2017 Dec 07.

Artículo en Inglés | MEDLINE | ID: mdl-29198720

2.

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.

Hum Mol Genet; 26(2): 258-269, 2017 01 15.

Artículo en Inglés | MEDLINE | ID: mdl-28013290

3.

Mutations in TUBB8 and Human Oocyte Meiotic Arrest.

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.

N Engl J Med; 374(3): 223-32, 2016 Jan 21.

Artículo en Inglés | MEDLINE | ID: mdl-26789871

4.

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.

Hum Mol Genet; 25(21): 4635-4648, 2016 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-28158450

5.

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.

Am J Hum Genet; 97(6): 790-800, 2015 Dec 03.

Artículo en Inglés | MEDLINE | ID: mdl-26637975

6.

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.

J Med Genet; 53(10): 662-71, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-27273344

7.

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.

Hum Mol Genet; 19(18): 3599-613, 2010 Sep 15.

Artículo en Inglés | MEDLINE | ID: mdl-20603323

8.

Tuba8 is expressed at low levels in the developing mouse and human brain.

Braun, Andreas; Breuss, Martin; Salzer, Marion C; Flint, Jonathan; Cowan, Nicholas J; Keays, David A.

Am J Hum Genet; 86(5): 819-22; author reply 822-3, 2010 May 14.

Artículo en Inglés | MEDLINE | ID: mdl-20466094

9.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

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 T; Wenninger-Weinzierl, Andrea; Martinez-Reza, Maria Fernanda; Landler, Lukas; Lise, Stefano; Taylor, Jenny C; Terrone, Gaetano; Vitiello, Giuseppina; Del Giudice, Ennio; 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.

Neuron; 100(6): 1354-1368.e5, 2018 12 19.

Artículo en Inglés | MEDLINE | ID: mdl-30449657

10.

Bad chaperone.

Lewis, Sally A; Cowan, Nicholas J.

Nat Med; 8(11): 1202-3, 2002 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-12411941

11.

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.

Tian, Guoling; Cristancho, Ana G; Dubbs, Holly A; Liu, Grant T; Cowan, Nicholas J; Goldberg, Ethan M.

Mol Genet Genomic Med; 4(6): 599-603, 2016 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-27896282

12.

Tubulin-specific chaperones: components of a molecular machine that assembles the α/ß heterodimer.

Tian, Guoling; Cowan, Nicholas J.

Methods Cell Biol; 115: 155-71, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23973072

13.

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.

Nat Genet; 45(6): 639-47, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-23603762

14.

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.

Mol Cell Biol; 31(17): 3639-52, 2011 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-21730289

15.

Effect of TBCD and its regulatory interactor Arl2 on tubulin and microtubule integrity.

Tian, Guoling; Thomas, Simi; Cowan, Nicholas J.

Cytoskeleton (Hoboken); 67(11): 706-14, 2010 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-20740604

16.

A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

Tian, Guoling; Kong, Xiang-Peng; Jaglin, Xavier H; Chelly, Jamel; Keays, David; Cowan, Nicholas J.

Mol Biol Cell; 19(3): 1152-61, 2008 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-18199681

17.

Mutations in alpha-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.

Cell; 128(1): 45-57, 2007 Jan 12.

Artículo en Inglés | MEDLINE | ID: mdl-17218254

18.

Mutations affecting beta-tubulin folding and degradation.

Wang, Yaqing; Tian, Guoling; Cowan, Nicholas J; Cabral, Fernando.

J Biol Chem; 281(19): 13628-13635, 2006 May 12.

Artículo en Inglés | MEDLINE | ID: mdl-16554299

19.

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.

Proc Natl Acad Sci U S A; 103(36): 13491-6, 2006 Sep 05.

Artículo en Inglés | MEDLINE | ID: mdl-16938882

20.

Identification of a novel tubulin-destabilizing protein related to the chaperone cofactor E.

Bartolini, Francesca; Tian, Guoling; Piehl, Michelle; Cassimeris, Lynne; Lewis, Sally A; Cowan, Nicholas J.

J Cell Sci; 118(Pt 6): 1197-207, 2005 Mar 15.

Artículo en Inglés | MEDLINE | ID: mdl-15728251

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