PubMed (GeneRIF) for id: 7280

Year	Number of Results
2001	1
2002	1
2003	1
2010	1
2011	1
2012	4
2014	1
2017	1
2018	1
2019	1
2020	3
2021	2
2022	2
2024	0

1

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. Schröter J, et al. Stem Cell Res. 2022 Oct;64:102879. doi: 10.1016/j.scr.2022.102879. Epub 2022 Jul 29. Stem Cell Res. 2022. PMID: 35930870 Free article.

2

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. Ragoussis V, et al. J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5. J Med Genet. 2022. PMID: 33547136 Free PMC article. No abstract available.

3

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. Jin Y, et al. Med Sci Monit. 2020 Oct 2;26:e924343. doi: 10.12659/MSM.924343. Med Sci Monit. 2020. PMID: 33006960 Free PMC article.

4

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. Brock S, et al. J Med Genet. 2021 Jan;58(1):33-40. doi: 10.1136/jmedgenet-2019-106740. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571897 Free PMC article.

5

De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.

Cai S, Li J, Wu Y, Jiang Y. Cai S, et al. J Hum Genet. 2020 Jul;65(7):601-608. doi: 10.1038/s10038-020-0739-5. Epub 2020 Mar 16. J Hum Genet. 2020. PMID: 32203252

6

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. Ruksha K, et al. Cells. 2019 Jan 7;8(1):25. doi: 10.3390/cells8010025. Cells. 2019. PMID: 30621030 Free PMC article.

7

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. Sferra A, et al. Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. Hum Mol Genet. 2018. PMID: 29547997

8

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. Ejaz R, et al. Am J Med Genet A. 2017 Oct;173(10):2725-2730. doi: 10.1002/ajmg.a.38352. Epub 2017 Aug 25. Am J Med Genet A. 2017. PMID: 28840640

9

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. Cushion TD, et al. Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009. Am J Hum Genet. 2014. PMID: 24702957 Free PMC article.

10

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. Leandro-García LJ, et al. Clin Cancer Res. 2012 Aug 15;18(16):4441-8. doi: 10.1158/1078-0432.CCR-12-1221. Epub 2012 Jun 20. Clin Cancer Res. 2012. PMID: 22718863 Free PMC article.

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