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2006 1
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2011 2
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2014 4
2015 3
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2017 2
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2019 4
2020 1
2021 3
2022 3
2023 6
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36 results

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Page 1
TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.
Ngo L, Haas M, Qu Z, Li SS, Zenker J, Teng KS, Gunnersen JM, Breuss M, Habgood M, Keays DA, Heng JI. Ngo L, et al. Hum Mol Genet. 2014 Oct 1;23(19):5147-58. doi: 10.1093/hmg/ddu238. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833723 Free article.
We have previously shown that mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities in humans. ...Together, our studies show that TUBB5 is essential for neuronal differentiation and dendritic spine formation in vivo, providi …
We have previously shown that mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities in huma …
Spectrum of clinical heterogeneity of beta-tubulin TUBB5 gene mutations.
Madrigal I, Rabionet R, Alvarez-Mora MI, Sanchez A, Rodríguez-Revenga L, Estivill X, Mila M. Madrigal I, et al. Gene. 2019 May 5;695:12-17. doi: 10.1016/j.gene.2019.02.002. Epub 2019 Feb 7. Gene. 2019. PMID: 30738969
Exome sequencing revealed the presence of a de novo missense mutation in the TUBB5 gene (E401K). Mutations in the TUBB5 are mainly responsible for microcephaly but the clinical spectrum is wide, from patients with severe developmental delay, and the presence of diff …
Exome sequencing revealed the presence of a de novo missense mutation in the TUBB5 gene (E401K). Mutations in the TUBB5 are ma …
Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.
Breuss MW, Hansen AH, Landler L, Keays DA. Breuss MW, et al. Behav Brain Res. 2017 Apr 14;323:47-55. doi: 10.1016/j.bbr.2017.01.029. Epub 2017 Jan 25. Behav Brain Res. 2017. PMID: 28130172 Free article.
Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompani …
Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polym …
Effects of Venlafaxine on the Size of Brain and Expression of SHANK3, TUBB5 and DDC Genes in BALB/c Mice.
Ranjbar R, Zamanzadeh Z, Ahadi AM. Ranjbar R, et al. Psychopharmacol Bull. 2023 Aug 11;53(3):22-34. Psychopharmacol Bull. 2023. PMID: 37601086
Results showed that the mRNA expression levels of SHANK3 and TUBB5 was significantly downregulated in venlafaxine-treated mice compared to control group. ...CONCLUSIONS: These results provide evidence that use of venlafaxine during pregnancy may affect the brain developmen …
Results showed that the mRNA expression levels of SHANK3 and TUBB5 was significantly downregulated in venlafaxine-treated mice compar …
Mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA. Breuss M, et al. Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13. Cell Rep. 2012. PMID: 23246003 Free PMC article. Clinical Trial.
We report the occurrence of three microcephalic patients with structural brain abnormalities harboring de novo mutations in TUBB5 (M299V, V353I, and E401K). These mutant proteins, which affect the chaperone-dependent assembly of tubulin heterodimers in different ways, disr …
We report the occurrence of three microcephalic patients with structural brain abnormalities harboring de novo mutations in TUBB5 (M2 …
Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.
Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, Vonberg FW, Werner B, Elling U, Keays DA. Breuss M, et al. Development. 2016 Apr 1;143(7):1126-33. doi: 10.1242/dev.131516. Epub 2016 Feb 22. Development. 2016. PMID: 26903504
In this study we explore the genetic and cellular mechanisms that cause TUBB5-associated microcephaly by exploiting two new mouse models: a conditional E401K knock-in, and a conditional knockout animal. ...This work sheds light on the functional repertoire of Tubb5, …
In this study we explore the genetic and cellular mechanisms that cause TUBB5-associated microcephaly by exploiting two new mouse mod …
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are a heterogeneous group of conditions with a wide spectrum of clinical severity. Among the 106 patients selec …
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly ref …
Validation of superior reference genes in mouse submandibular glands under developmental and functional regeneration states.
Liu H, He L, Cheng Q, Luo W, Zhao T, Yang D. Liu H, et al. Int J Mol Med. 2022 Nov;50(5):132. doi: 10.3892/ijmm.2022.5188. Epub 2022 Sep 7. Int J Mol Med. 2022. PMID: 36069228 Free PMC article.
A total of 12 reference genes (Actb, Actg1, Ubc, Uba1, Uba52, Ube2c, Tuba1a, Tuba1b, Tubb5, H2afy, H2afx and Gapdh) from 430 candidates involving tubulin, histone, actin, ubiquitin and GAPDH family members were screened via transcriptome sequencing (RNA-seq) analysis. ...A …
A total of 12 reference genes (Actb, Actg1, Ubc, Uba1, Uba52, Ube2c, Tuba1a, Tuba1b, Tubb5, H2afy, H2afx and Gapdh) from 430 candidat …
A comparative assessment of reference genes in mouse brown adipocyte differentiation and thermogenesis in vitro.
Lai TH, Hwang JS, Ngo QN, Lee DK, Kim HJ, Kim DR. Lai TH, et al. Adipocyte. 2024 Dec;13(1):2330355. doi: 10.1080/21623945.2024.2330355. Epub 2024 Mar 25. Adipocyte. 2024. PMID: 38527945 Free PMC article.
Conversely, certain conventional references, including Actb, Tubb5, and Gapdh, proved unstable as reference genes under both conditions. ...
Conversely, certain conventional references, including Actb, Tubb5, and Gapdh, proved unstable as reference genes under both conditio …
Zebrafish embryonic neurons transport messenger RNA to axons and growth cones in vivo.
Baraban M, Anselme I, Schneider-Maunoury S, Giudicelli F. Baraban M, et al. J Neurosci. 2013 Oct 2;33(40):15726-34. doi: 10.1523/JNEUROSCI.1510-13.2013. J Neurosci. 2013. PMID: 24089481 Free PMC article.
Here, we provide direct evidence of the presence of mRNAs of the tubb5, nefma, and stmnb2 genes in several types of axons in the developing zebrafish (Danio rerio) embryo, with frequent accumulation at the growth cone. ...We set up a reporter system in which the 3' untrans …
Here, we provide direct evidence of the presence of mRNAs of the tubb5, nefma, and stmnb2 genes in several types of axons in the deve …
36 results