Alternative splicing of the pyruvate kinase M gene involves a choice between mutually exclusive exons 9 and 10. Use of exon 10 to generate the M2 isoform is crucial for aerobic glycolysis (the Warburg effect) and tumour growth. We previously demonstrated that splicing enhancer elements that activate exon 10 are mainly found in exon 10 itself, and deleting or mutating these elements increases th...

Head and neck squamous cell carcinoma (HNSCC) is the most common type of head cancer, has been revealed as second-highest expression CD44 in cancers. investigated a cancer stem marker HNSCC plays critical role tumor malignant progression. Especially, splicing variant isoforms (CD44v) are overexpressed cancers considered promising target for diagnosis therapy. We developed monoclonal antibodies ...

Cytochrome P450 (CYP) 2D6 is an important drug-metabolizing enzyme, and its gene is known to be highly polymorphic. Here, we report five novel nonsynonymous single nucleotide polymorphisms (SNPs), and 65 other sequence variations detected from the gene coding for cytochrome P450 (CYP) 2D6 in 254 Japanese subjects. Two of the novel nonsynonymous SNPs were associated with the *10 key SNP, C100T. ...

Objective: Familial Mediterranean fever (FMF) is the most common disease that leads to secondary amyloidosis related persistent subclinical inflammation in Turkish patients. Pan-immune-inflammation value (PIIV), a recently-developed index validated predict prognoses of several malignancies. We investigated PIIV FMF Material and Methods: included 100 patients with regular follow-ups, defined as ...

Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. Intronic mutations and some missense mutations increase splicing in of exon 10, leading to an increased ratio of four-repeat to three-repeat tau isoforms. Secondary structure predictions have led to the proposal that intronic mutations and one missense mutation destabiliz...

Embryonic poly(A) binding protein (EPAB), expressed in oocytes and early embryos, binds and stabilizes maternal mRNAs, and mediates initiation of their translation. We identified an alternatively spliced form of Epab lacking exon 10 (c.Ex10del) and investigated the regulation of Epab mRNA alternative splicing as a model for alternative splicing in oocytes and early preimplantation embryos. Spec...

acetyl-coenzyme a carboxylase α (acc-alpha) is considered as the key regulatory enzyme in fatty acid biosynthesis. acc-alpha gene is located on caprine chromosome 11 and is polymorphic in many goat breeds. in the current study, we aimed to find possible single nucleotide polymorphisms (snps) in the exon 1 region of the acc-alpha gene in iranian mahabadi goat breed. genomic dna was extracted fro...

The discovery of mutations in the tau gene in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) (1–4) has demonstrated that tau dysfunction can result in neurodegeneration and has allowed researchers to generate transgenic models of the human tauopathies (5) (see Table 1 for summary). Transgenic models permit studies on the mechanisms of formation of filamentous tau les...