| ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma. | ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.
Wang J, Gong M, Xiong Z, Zhao Y, Xing D. | 03/9/2023 |
| Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing. | Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Hou Y, Shao L, Zhou H, Liu Y, Fisk DG, Spiteri E, Zehnder JL, Peng J, Zhang BM, Hou M. | 04/30/2022 |
| Expanding the genetic spectrum of TUBB1-related thrombocytopenia. | Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Palma-Barqueros V, Bury L, Kunishima S, Lozano ML, Rodríguez-Alen A, Revilla N, Bohdan N, Padilla J, Fernández-Pérez MP, de la Morena-Barrio ME, Marín-Quilez A, Benito R, López-Fernández MF, Marcellini S, Zamora-Cánovas A, Vicente V, Martínez C, Gresele P, Bastida JM, Rivera J., Free PMC Article | 01/15/2022 |
| Identification of novel TUBB1 variants in patients with macrothrombocytopenia. | Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Çalışkaner ZO, Abdul Waheed A, Tuzlakoğlu Öztürk M, Oymak Y, Tazebay UH, Akar N, Kandilci A, Torun Özkan D., Free PMC Article | 11/13/2021 |
| Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia. | Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia.
Liu CX, Yin RX, Shi ZH, Zheng PF, Deng GX, Guan YZ, Wei BL., Free PMC Article | 07/24/2021 |
| Author found that the nuclear accumulation of p53 (also termed TP53) and the expression of pro-apoptotic genes triggered by genotoxic stress were blocked in TUBB1-deficient cells and, accordingly, apoptosis after DNA damage was diminished by knockdown of TUBB1. | TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.
Matsumura T, Nakamura-Ishizu A, Takaoka K, Maki H, Muddineni SSNA, Wang CQ, Suzushima H, Kawakita M, Asou N, Matsuoka M, Kurokawa M, Osato M, Suda T. | 06/13/2020 |
| novel mutation is detected in the exon of the TUBB1 gene in children with hypothyroidism and thyroid dysgenesis in Shandong | [TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].
Sun CH, Liu WM, Li MM, Zou H, Liu SG, Wang F., Free PMC Article | 11/16/2019 |
| TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists. | TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Stoupa A, Adam F, Kariyawasam D, Strassel C, Gawade S, Szinnai G, Kauskot A, Lasne D, Janke C, Natarajan K, Schmitt A, Bole-Feysot C, Nitschke P, Léger J, Jabot-Hanin F, Tores F, Michel A, Munnich A, Besmond C, Scharfmann R, Lanza F, Borgel D, Polak M, Carré A., Free PMC Article | 07/27/2019 |
| A novel mutation (c.1267C>T nonsense mutation (p.Q423*)) located in the C-terminal part of the beta1-tubulin protein is reported, confirming that this domain plays a key role in microtubule assembly. | A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.
Fiore M, Goulas C, Pillois X. | 04/20/2019 |
| Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. | Down Regulation of the Munc18b-syntaxin-11 Complex and β1-tubulin Impairs Secretion and Spreading in Neonatal Platelets.
Caparrós-Pérez E, Teruel-Montoya R, Palma-Barquero V, Torregrosa JM, Blanco JE, Delgado JL, Lozano ML, Vicente V, Sola-Visner M, Rivera J, Martínez C, Ferrer-Marín F. | 08/11/2018 |
| novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual disability in Familial pachygyria | Familial pachygyria in both genders related to a DCX mutation.
Kim YO, Nam TS, Park C, Kim SK, Yoon W, Choi SY, Kim MK, Woo YJ. | 03/11/2017 |
| Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the beta1-tubulin defect. | Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene.
Stächele J, Bakchoul T, Najm J, Felbor U, Knöfler R. | 12/17/2016 |
| TUBB1 R307H SNP is significantly associated with the degree of thrombocytopenia in congenital and acquired platelet disorders, and may affect platelets by altering microtubule behavior. | β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia.
Basciano PA, Matakas J, Pecci A, Civaschi E, Cagioni C, Bompiani N, Burger P, Christos P, Snyder JP, Bussel J, Balduini CL, Giannakakou P, Noris P. | 02/13/2016 |
| Data indicate that ABCB1 protein, beta tubulin I and III (betaI, and betaIII tubulin) might contribute to the multidrug resistance (MDR) of MCF7/DOC and be potential therapeutic targets for overcoming MDR of breast cancer. | Association of ABCB1, β tubulin I, and III with multidrug resistance of MCF7/DOC subline from breast cancer cell line MCF7.
Li W, Zhai B, Zhi H, Li Y, Jia L, Ding C, Zhang B, You W. | 01/3/2015 |
| TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia. | TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.
Kunishima S, Nishimura S, Suzuki H, Imaizumi M, Saito H. | 11/29/2014 |
| our findings define beta-tubulin VI as a hematologic isotype with significant genetic variation in humans that may affect the myelosuppresive action of microtubule-binding drugs | Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.
Leandro-García LJ, Leskelä S, Inglada-Pérez L, Landa I, de Cubas AA, Maliszewska A, Comino-Méndez I, Letón R, Gómez-Graña Á, Torres R, Ramírez JC, Álvarez S, Rivera J, Martínez C, Lozano ML, Cascón A, Robledo M, Rodríguez-Antona C. | 12/8/2012 |
| 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 |
| homozygous status of P43 genetic polymorphism causes alterations in platelet ultrastructure | Rare homozygous status of P43 β1-tubulin polymorphism causes alterations in platelet ultrastructure.
Navarro-Núñez L, Teruel R, Antón AI, Nurden P, Martínez-Martínez I, Lozano ML, Rivera J, Corral J, Mezzano D, Vicente V, Martinez C. | 09/17/2011 |
| Studies show that BFBTS bound and modified beta-tubulin at residue Cys12, forming beta-tubulin-SS-fluorobenzyl. | Natural product derivative Bis(4-fluorobenzyl)trisulfide inhibits tumor growth by modification of beta-tubulin at Cys 12 and suppression of microtubule dynamics.
Xu W, Xi B, Wu J, An H, Zhu J, Abassi Y, Feinstein SC, Gaylord M, Geng B, Yan H, Fan W, Sui M, Wang X, Xu X. | 03/29/2010 |
| TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction. | TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction.
Navarro-Núñez L, Roldán V, Lozano ML, Rivera J, Marin F, Vicente V, Martínez C, Navarro-Núñez L, Roldán V, Lozano ML, Rivera J, Marin F, Vicente V, Martínez C. | 01/21/2010 |
| Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. | Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H. | 01/21/2010 |
| biophysical analysis of carboxy-terminal tail conformation of human beta-tubulin isotypes | Conformational analysis of the carboxy-terminal tails of human beta-tubulin isotypes.
Luchko T, Huzil JT, Stepanova M, Tuszynski J., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesStudy of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders.
Antón AI, González-Conejero R, Roldán V, Quiroga T, Sánchez-Vega B, Corral J, Vicente V, Mezzano D. Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause.
Martínez C, Antón AI, Corral J, Quiroga T, Panes O, Lozano ML, González-Conejero R, Teruel R, Navarro-Núñez L, Pereira J, Mezzano D, Vicente V, Rivera J. TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction.
Navarro-Núñez L, Roldán V, Lozano ML, Rivera J, Marin F, Vicente V, Martínez C, Navarro-Núñez L, Roldán V, Lozano ML, Rivera J, Marin F, Vicente V, Martínez C. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.
Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C. | 03/13/2008 |
| SLPI localizes in part along the megakaaryocyte and platelet cytoskeleton by virtue of specific interactions with beta1 tubulin. | Interactions between the megakaryocyte/platelet-specific beta1 tubulin and the secretory leukocyte protease inhibitor SLPI suggest a role for regulated proteolysis in platelet functions.
Schulze H, Korpal M, Bergmeier W, Italiano JE Jr, Wahl SM, Shivdasani RA. | 01/21/2010 |
| The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of intracerebral hemorrhage in men. | The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men.
Navarro-Núñez L, Lozano ML, Rivera J, Corral J, Roldán V, González-Conejero R, Iniesta JA, Montaner J, Vicente V, Martínez C. | 01/21/2010 |