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TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1.
Wang X, Shi J, Huang M, Chen J, Dan J, Tang Y, Guo Z, He X, Zhao Q. Wang X, et al. Cell Death Dis. 2023 Mar 6;14(3):179. doi: 10.1038/s41419-023-05687-2. Cell Death Dis. 2023. PMID: 36872411 Free PMC article.
Deletion of TUBB2B in hepatocytes inhibits proliferation and promotes tumor cell apoptosis, while over-expression of TUBB2B has the opposite function. ...In addition, TUBB2B regulates CYP27A1 via human hepatocyte nuclear factor 4alpha (HNF4A). ...
Deletion of TUBB2B in hepatocytes inhibits proliferation and promotes tumor cell apoptosis, while over-expression of TUBB2B ha …
Patterns of tubb2b Promoter-Driven Fluorescence in the Forebrain of Larval Xenopus laevis.
Daume D, Offner T, Hassenklöver T, Manzini I. Daume D, et al. Front Neuroanat. 2022 Jul 8;16:914281. doi: 10.3389/fnana.2022.914281. eCollection 2022. Front Neuroanat. 2022. PMID: 35873659 Free PMC article.
In the diencephalon, tubb2b-dependent fluorescence occurred mainly in the prethalamus and thalamus. As in the olfactory system, not all neurons of these forebrain regions exhibited tubb2b-dependent fluorescence. Together, our results present a detailed overview of t …
In the diencephalon, tubb2b-dependent fluorescence occurred mainly in the prethalamus and thalamus. As in the olfactory system, not a …
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
More than 100 MCD-associated mutations have been reported in TUBA1A, TUBB2B, or TUBB3 genes, whereas fewer than ten are known in other genes such TUBB2A, TUBB or TUBG1. ...
More than 100 MCD-associated mutations have been reported in TUBA1A, TUBB2B, or TUBB3 genes, whereas fewer than ten are known in othe …
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.
Schröter J, Döring JH, Garbade SF, Hoffmann GF, Kölker S, Ries M, Syrbe S. Schröter J, et al. Genet Med. 2021 Mar;23(3):516-523. doi: 10.1038/s41436-020-01001-z. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082561 Free PMC article.
RESULTS: Mean age at disease onset was 4 (TUBA1A) and 6 months (TUBB2B), respectively. Mortality was equally estimated with 7% at 3.2 (TUBA1A) and 8.0 years (TUBB2B). Diagnostic delay was significantly higher in TUBB2B (12.3 years) compared with TUBA1A tubuli …
RESULTS: Mean age at disease onset was 4 (TUBA1A) and 6 months (TUBB2B), respectively. Mortality was equally estimated with 7% at 3.2 …
Upregulation of MAPK10, TUBB2B and RASL11B may contribute to the development of neuroblastoma.
Liu J, Li Y. Liu J, et al. Mol Med Rep. 2019 Oct;20(4):3475-3486. doi: 10.3892/mmr.2019.10589. Epub 2019 Aug 20. Mol Med Rep. 2019. PMID: 31432180 Free PMC article.
Additionally, PHOX2B was predicted to be a TF regulating TUBB2B in the regulatory network. The expressions of MAPK10, TUBB2B, RASL11B and ITGA2 were detected by reverse transcription-quantitative polymerase chain reaction in the NB cell line SH-SY5Y, and were consis …
Additionally, PHOX2B was predicted to be a TF regulating TUBB2B in the regulatory network. The expressions of MAPK10, TUBB2B, …
A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
Dekker J, Diderich KEM, Schot R, Husen SC, Dremmen MHG, Go ATJI, Weerts MJA, van Slegtenhorst MA, Mancini GMS. Dekker J, et al. Eur J Paediatr Neurol. 2021 Nov;35:35-39. doi: 10.1016/j.ejpn.2021.09.007. Epub 2021 Sep 15. Eur J Paediatr Neurol. 2021. PMID: 34592644 Free article.
Exome sequencing on fetal material afterwards identified a heterozygous maternally inherited variant in TUBB2B (NM_178012.4 (TUBB2B):c.530A > T, p.(Asp177Val)), not present in GnomAD and predicted as damaging. The healthy mother had only a language delay in child …
Exome sequencing on fetal material afterwards identified a heterozygous maternally inherited variant in TUBB2B (NM_178012.4 (TUBB2 …
Tubulinopathies Overview.
Bahi-Buisson N, Maillard C. Bahi-Buisson N, et al. 2016 Mar 24 [updated 2021 Sep 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Mar 24 [updated 2021 Sep 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27010057 Free Books & Documents. Review.
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW. Geiger JT, et al. Case Rep Neurol. 2017 Aug 31;9(2):216-221. doi: 10.1159/000479788. eCollection 2017 May-Aug. Case Rep Neurol. 2017. PMID: 28966590 Free PMC article.
RESULTS: The patient was found to carry a heterozygous, de novo c.722G>A, p.R241H mutation in a conserved domain of TUBB2B, encoding the beta-isoform of tubulin. In silico analysis indicated that this mutation was pathogenic. ...CONCLUSIONS: Here, we report the unique p …
RESULTS: The patient was found to carry a heterozygous, de novo c.722G>A, p.R241H mutation in a conserved domain of TUBB2B, encodi …
A neurodevelopmental TUBB2B beta-tubulin mutation impairs Bim1 (yeast EB1)-dependent spindle positioning.
Denarier E, Brousse C, Sissoko A, Andrieux A, Boscheron C. Denarier E, et al. Biol Open. 2019 Jan 29;8(1):bio038620. doi: 10.1242/bio.038620. Biol Open. 2019. PMID: 30674462 Free PMC article.
Cerebral cortical folding relies on neuronal migration and on progenitor proliferation partly dictated by microtubule-dependent mitotic spindle positioning. A single amino acid change, F265L, in the conserved TUBB2B beta-tubulin gene has been identified in patients with ab …
Cerebral cortical folding relies on neuronal migration and on progenitor proliferation partly dictated by microtubule-dependent mitotic spin …
[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].
Yan L, Lu Z, Liu Y, Han C, Ying H, Bao Y, Xue J, Li H. Yan L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):301-304. doi: 10.3760/cma.j.cn511374-20210331-00285. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315040 Chinese.
Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant may impact the formation of hydrogen bonds between Leu253 and Asp249 and Met257 residues, which in turn may affect the combination of GTP/GDP …
Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant m …
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