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novel DCX (show DCX Proteins) 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 (show TUBB Proteins) defect.
Mutations in either TUBB (show TUBB2A Proteins) or MAPRE2 (show MAPRE2 Proteins) cause circumferential skin creases Kunze type.
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 (show ABCB1 Proteins) protein, beta tubulin (show TUBB Proteins) I and III (betaI, and betaIII tubulin (show TUBB3 Proteins)) 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 (show TUBB Proteins) VI as a hematologic isotype with significant genetic variation in humans that may affect the myelosuppresive action of microtubule-binding drugs
homozygous status of P43 (show AIMP1 Proteins) genetic polymorphism causes alterations in platelet ultrastructure
human tumor cells can acquire spontaneous mutations in beta1-tubulin (show TUBB Proteins) that cause resistance to paclitaxel
Studies show that BFBTS bound and modified beta-tubulin (show TUBB Proteins) at residue Cys12, forming beta-tubulin (show TUBB Proteins)-SS-fluorobenzyl.
RanBP10 (show RANBP10 Proteins) inhibits premature microtubule polymerization of beta1-tubulin (show TUBB Proteins) and plays a pivotal role in thrombus stabilization.
The hematopoietic-specific Hbeta1 (show KCNMB1 Proteins) tubulin (show TUBB Proteins) isotype naturally encodes Ibeta236 and is insensitive to 2-methoxyestradiol.
findings highlight the essential requirements of the megakaryocyte/platelet-restricted beta1-tubulin (show TUBB Proteins) isoform in platelet structure
SLPI (show SLPI Proteins) localizes in part along the megakaaryocyte and platelet cytoskeleton by virtue of specific interactions with beta1 tubulin (show TUBB Proteins).
The conserved four-helix bundle of c-Cbl's tyrosine kinase (show TYRO3 Proteins) binding domain bound to beta-tubulin (show TUBB Proteins), and both c-Cbl (show CBL Proteins) and Cbl-b displaced HDAC6 (show HDAC6 Proteins).
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.
Tubulin beta-1 chain
, tubulin, beta 1
, tubulin beta-1 chain
, tubulin, beta family 1
, tubulin beta-1 chain-like
, beta-tubulin class-VI
, tubulin beta-6 chain
, tubulin, beta 3
, beta tubulin 1, class VI
, class VI beta-tubulin