The tumour suppressor Merlin, encoded by the gene NF2, is frequently mutated in the autosomal dominant disorder neurofibromatosis type II, characterised primarily by the development of schwannoma and other glial cell tumours. However, NF2 is expressed in virtually all analysed human and rodent organs, and its deletion in mice causes early embryonic lethality. Additionally, NF2 encodes for two m...

Background: It is now well-demonstrated that histone demethylases play an important role in developmental controls, cell-fate decisions, and a variety of diseases such as cancer. Lysine-specific demethylase 5D (KDM5D) is a male-specific histone demethylase that specifically demethylates di- and tri-methyl H3K4 at the start site of active genes. In this light, the aim of this study was to invest...

The binding mechanism of a new class of lipid-competitive, ATP non-competitive, p110α isoform-selective PI3K (phosphoinositide 3-kinase) inhibitors has been elucidated. Using the novel technique of isoform reciprocal mutagenesis of non-conserved amino acids in the p110α and p110β isoforms, we have identified three unique binding mechanisms for the p110α-selective inhibitors PIK-75, A-66S and J-...

introduction: macroprolactin is a significant cause of misdiagnosis, unnecessary investigation, and inappropriate treatment in patients with hyperprolactinemia. its frequency has not been clearly established due to technical difficulties in identifying it. most laboratories and clinicians are unaware of macroprolactin interferences in prolactin assays. materials and methods: a comprehensive lit...

Multi-instance learning (MIL) can model complex bags (samples) that are further made of diverse instances (subsamples). In typical MIL, the labels known while those individual unknown and to be specified. this paper we propose an imbalanced deep multi-instance approach (IDMIL-III) apply it predict genome-wide isoform–isoform interactions (IIIs). This prediction task is crucial for precisely und...

RNA-seq is routinely used to measure gene expression changes in response cell perturbation. Genes upregulated or downregulated following some perturbation are designated as genes of interest, and their most expressed isoform(s) would then be selected for follow-up experimentation. However, because its need fragment RNA molecules, limited ability capture isoforms patterns. This lack isoform-spec...