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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.
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
Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the beta1-tubulin defect.
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.
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.
TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.
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
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
homozygous status of P43 genetic polymorphism causes alterations in platelet ultrastructure
Studies show that BFBTS bound and modified beta-tubulin at residue Cys12, forming beta-tubulin-SS-fluorobenzyl.
SLPI localizes in part along the megakaaryocyte and platelet cytoskeleton by virtue of specific interactions with beta1 tubulin.
the platelet Q43P beta1-tubulin substitution is frequent in the healthy population and may protect men against arterial thrombosis
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.
biophysical analysis of carboxy-terminal tail conformation of human beta-tubulin isotypes
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction.
RanBP10 inhibits premature microtubule polymerization of beta1-tubulin and plays a pivotal role in thrombus stabilization.
The hematopoietic-specific Hbeta1 tubulin isotype naturally encodes Ibeta236 and is insensitive to 2-methoxyestradiol.
findings highlight the essential requirements of the megakaryocyte/platelet-restricted beta1-tubulin isoform in platelet structure
The conserved four-helix bundle of c-Cbl's tyrosine kinase binding domain bound to beta-tubulin, and both c-Cbl and Cbl-b displaced HDAC6.
This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.
beta tubulin 1, class VI
, class VI beta-tubulin
, tubulin beta-1 chain
, beta-tubulin class-VI
, tubulin beta-6 chain
, tubulin, beta 3
, Tubulin beta-1 chain
, tubulin, beta 1
, tubulin, beta family 1
, tubulin beta-1 chain-like