| Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy. | Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.
Schröter J, Syring H, Göhring G, Kölker S, Opladen T, Hoffmann GF, Syrbe S, Jung-Klawitter S. | 10/29/2022 |
| Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA, Sampson JR, Suri M, Gardham A, Cobben JM, Osio D, Fry AE, Genomics England Research Consortium, Taylor JC., Free PMC Article | 04/30/2022 |
| Defining the phenotypical spectrum associated with variants in TUBB2A. | Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K., Free PMC Article | 09/11/2021 |
| Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. | Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis.
Jin Y, Zhang S, Liu L., Free PMC Article | 05/22/2021 |
| De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. | De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S, Li J, Wu Y, Jiang Y. | 02/2/2021 |
| The results suggest that betaII-tubulin may facilitate cancer growth and metastasis and, to accomplish this, may not need to be in microtubule form. | Over-Expression of βII-Tubulin and Especially Its Localization in Cell Nuclei Correlates with Poorer Outcomes in Colorectal Cancer.
Ruksha K, Mezheyeuski A, Nerovnya A, Bich T, Tur G, Gorgun J, Luduena R, Portyanko A., Free PMC Article | 12/14/2019 |
| Consistent with the differential clinical and structural impact, TUBB2AA248V does not drastically affect TUBB2A binding to KIF1A, nor mitotic spindle bipolarity. Overall, our data demonstrate a pathogenic role of the p.D417N substitution that is different from previously reported TUBB2A mutations and expand the phenotypic spectrum associated with mutations in this gene. | Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E. | 02/16/2019 |
| TUBB2A missense mutation is associated with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. | De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. | 02/10/2018 |
| study associates mutations in TUBB2A with the spectrum of "tubulinopathy" phenotypes | De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB., Free PMC Article | 05/31/2014 |
| This is the first study showing that paclitaxel neuropathy risk is influenced by polymorphisms regulating the expression of a beta-tubulin gene. | Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.
Leandro-García LJ, Leskelä S, Jara C, Gréen H, Avall-Lundqvist E, Wheeler HE, Dolan ME, Inglada-Perez L, Maliszewska A, de Cubas AA, Comino-Méndez I, Mancikova V, Cascón A, Robledo M, Rodríguez-Antona C., Free PMC Article | 01/12/2013 |
| Class II beta-tubulin may be very useful for immunohistochemical diagnosis of classical Hodgkin's lymphoma. | Expression of β-tubulin isotypes in classical Hodgkin's lymphoma.
Choi JW, Lee JH, Kim YS. | 07/21/2012 |
| Data suggest that the increased betaII- and betaIII-tubulin contributed significantly to the resistance phenotype. | βII-tubulin and βIII-tubulin mediate sensitivity to peloruside A and laulimalide, but not paclitaxel or vinblastine, in human ovarian carcinoma cells.
Kanakkanthara A, Northcote PT, Miller JH. | 06/23/2012 |
| A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S. | 04/26/2012 |
| This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia | Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
Martins-de-Souza D, Schmitt A, Röder R, Lebar M, Schneider-Axmann T, Falkai P, Turck CW. | 04/22/2010 |
| lack of mutations in early stage lung cancer | Lack of beta-tubulin gene mutations in early stage lung cancer.
Kohonen-Corish MR, Qin H, Daniel JJ, Cooper WA, Rivory L, McCaughan B, Millward MJ, Trent RJ. | 01/21/2010 |
| Data show that connexin 43 (cx43) binds alpha-tubulin equally well as beta-tubulin, and that ZO-1 binds directly to Cx43. | Connexin-43 interactions with ZO-1 and alpha- and beta-tubulin.
Giepmans BN, Verlaan I, Moolenaar WH. | 01/21/2010 |
| Mutations of the beta-tubulin gene, which might be a contraindication for chemotherapy based on taxans, were very rare events in gastric cancer. | Absence of beta-tubulin gene mutation in gastric carcinoma.
Urano N, Fujiwara Y, Hasegawa S, Miyoshi Y, Noguchi S, Takiguchi S, Yasuda T, Yano M, Monden M. | 01/21/2010 |