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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 …
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA, Santhakumar K. Tantry MSA, et al. Mol Neurobiol. 2023 Jul;60(7):3803-3823. doi: 10.1007/s12035-023-03302-1. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943622 Review.
Recently, mutations in tubulin isotypes (TUBA1A, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, and TUBG1) have been linked to cause various neurodevelopmental defects like lissencephaly, microcephaly, cortical dysplasia, polymicrogyria, schizencephaly, subcortical band heterotopia, …
Recently, mutations in tubulin isotypes (TUBA1A, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, and TUBG1) have been linked to cause various neu …
Integrated transcriptome and proteome analysis indicates potential biomarkers of prostate cancer in offspring of pregnant rats exposed to a phthalate mixture during gestation and lactation.
Aquino AM, Alonso-Costa LG, Santos SAA, Rocha VA, Barbisan LF, Bedrat A, Justulin LA, Flaws JA, Lemos B, Scarano WR. Aquino AM, et al. Chemosphere. 2023 Nov;341:140020. doi: 10.1016/j.chemosphere.2023.140020. Epub 2023 Sep 8. Chemosphere. 2023. PMID: 37690569
The data highlight Ubxn11, Aldoc, Kif5c, Tubb4a, Tubb3, Tubb2, Rab6b and Rab3b as differentially expressed targets in young and adult offspring descendants (PND22 and PND120). ...The correlation of TF-kinases is associated with alterations in immune system, RAS/ErbB/VEGF/e …
The data highlight Ubxn11, Aldoc, Kif5c, Tubb4a, Tubb3, Tubb2, Rab6b and Rab3b as differentially expressed targets in young and adult …
NF1 mutation and TUBB3 amplification in gastric histiocytic sarcoma: a case report and literature review.
Yang Y, Fan W, Liu X, Chen Q. Yang Y, et al. Med Mol Morphol. 2024 Sep;57(3):244-251. doi: 10.1007/s00795-024-00393-0. Epub 2024 Jun 24. Med Mol Morphol. 2024. PMID: 38914690 Review.
Subsequently, next-generation sequencing identified a nonsense mutation in exon 21 of NF1 gene [c.2446C > T (p.R816*)] and the TUBB3 gene amplification (copy number: 4.55). The patient refused further treatment and died of the tumor half a year later. ...
Subsequently, next-generation sequencing identified a nonsense mutation in exon 21 of NF1 gene [c.2446C > T (p.R816*)] and the TUBB3 …
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
Wu J, Huang L, Zhou Y, Xie Y, Mo T, Li N. Wu J, et al. Orphanet J Rare Dis. 2024 Aug 15;19(1):300. doi: 10.1186/s13023-024-03206-w. Orphanet J Rare Dis. 2024. PMID: 39148141 Free PMC article.
Forty-nine of the 62 patients with CFEOM carried either KIF21A (41/49) or TUBB3 variants (8/49). Six known missense variants in the KIF21A and TUBB3 genes, and a novel variant (c.3906T > A, p.D1302E) in the KIF21A gene were detected. Most patients with CFEOM1 car …
Forty-nine of the 62 patients with CFEOM carried either KIF21A (41/49) or TUBB3 variants (8/49). Six known missense variants in the K …
Establishment of TUBB3-mCherry knock-in human pluripotent stem cell line using CRISPR/Cas9 (SNUe003-A-4).
Kim AH, Lee HM, Kim HS, Jung J, Seol H, Choi E, Lee S, Min Choi Y, Jun JK, Kim HS, Jang J. Kim AH, et al. Stem Cell Res. 2023 Jun;69:103064. doi: 10.1016/j.scr.2023.103064. Epub 2023 Mar 8. Stem Cell Res. 2023. PMID: 36913849 Free article.
TUBB3 is a structural neuronal protein important for multiple neuronal functions including axonal guidance and maturation. ...The established TUBB3-mCherry knock-in cell line exhibited typical pluripotent characteristics. The mCherry reporter faithfully replicated t …
TUBB3 is a structural neuronal protein important for multiple neuronal functions including axonal guidance and maturation. ...The est …
Prognostic Value of hsa_circ_0007615 in Epithelial Ovarian Cancer and its Regulatory Effect on Tumor Progression.
Wei W, Wang N, Lin L. Wei W, et al. Horm Metab Res. 2023 Nov;55(11):801-808. doi: 10.1055/a-2119-3229. Epub 2023 Jul 17. Horm Metab Res. 2023. PMID: 37459866
Tumor suppressive effects of hsa_circ_0007615 knockdown can be abolished by miR-874-3p inhibition. TUBB3 was a targeting gene of miR-874-3p. Hsa_circ_0007615 has the functional and clinical significance of EOC. Mechanistically, hsa_circ_0007615 may contribute to EOC by spo …
Tumor suppressive effects of hsa_circ_0007615 knockdown can be abolished by miR-874-3p inhibition. TUBB3 was a targeting gene of miR- …
dsRNAi-mediated silencing of PIAS2beta specifically kills anaplastic carcinomas by mitotic catastrophe.
Rodrigues JS, Chenlo M, Bravo SB, Perez-Romero S, Suarez-Fariña M, Sobrino T, Sanz-Pamplona R, González-Prieto R, Blanco Freire MN, Nogueiras R, López M, Fugazzola L, Cameselle-Teijeiro JM, Alvarez CV. Rodrigues JS, et al. Nat Commun. 2024 May 14;15(1):3736. doi: 10.1038/s41467-024-47751-1. Nat Commun. 2024. PMID: 38744818 Free PMC article.
High-throughput proteomics reveals the proteasome (PSMC5) and spindle cytoskeleton (TUBB3) to be direct targets of PIAS2b SUMOylation at mitotic initiation. These results identify PIAS2b-dsRNAi as a promising therapy for ATC and other aggressive anaplastic carcinomas....
High-throughput proteomics reveals the proteasome (PSMC5) and spindle cytoskeleton (TUBB3) to be direct targets of PIAS2b SUMOylation …
Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency.
Zhou F, Yang M, Zhang Z, Zhu H, Wang J, Li L, Xu B, Xiang Q, Hu T, Liu S. Zhou F, et al. Am J Obstet Gynecol. 2025 Nov;233(5):483.e1-483.e10. doi: 10.1016/j.ajog.2025.05.003. Epub 2025 May 15. Am J Obstet Gynecol. 2025. PMID: 40381797 Free article.
These variants involved genes of DEAD-box helicase 3 X-linked (DDX3X), Ras like without CAAX 1 (RIT1), NIPBL cohesin loading factor (NIPBL), ankyrin repeat domain containing 11 (ANKRD11), piezo type mechanosensitive ion channel component 2 (PIEZO2), Neurofibromin 1 (NF1), ASXL tr …
These variants involved genes of DEAD-box helicase 3 X-linked (DDX3X), Ras like without CAAX 1 (RIT1), NIPBL cohesin loading factor (NIPBL), …
Carboplatin-induced upregulation of pan β-tubulin and class III β-tubulin is implicated in acquired resistance and cross-resistance of ovarian cancer.
Pernar Kovač M, Tadić V, Kralj J, Duran GE, Stefanelli A, Stupin Polančec D, Dabelić S, Bačić N, Tomicic MT, Heffeter P, Sikic BI, Brozovic A. Pernar Kovač M, et al. Cell Mol Life Sci. 2023 Sep 17;80(10):294. doi: 10.1007/s00018-023-04943-0. Cell Mol Life Sci. 2023. PMID: 37718345 Free PMC article.
Both variants revealed increased protein expression of class III beta-tubulin (TUBB3) but differences in TUBB3 branching and nuclear morphology. Transient silencing of TUBB3 sensitized MES-OV CBP cells to TAX, and surprisingly also to CBP. ...In summary, the …
Both variants revealed increased protein expression of class III beta-tubulin (TUBB3) but differences in TUBB3 branching and n …
37 results