Background: Patients with diabetes mellitus type II suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. There are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. In this st...

Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene in plasma DNA is detected by real-time PCR amplification of two ...

Alternative splicing of the pyruvate kinase M gene (PK-M) can generate the M2 isoform and promote aerobic glycolysis and tumor growth. However, the cancer-specific alternative splicing regulation of PK-M is not completely understood. Here, we demonstrate that PK-M is regulated by reciprocal effects on the mutually exclusive exons 9 and 10, such that exon 9 is repressed and exon 10 is activated ...

Approximately half of metastatic colorectal cancers (mCRC) have somatic KRAS mutations. Such mutations confer a worse prognosis in relation to mCRC without mutations, and also predict lack response anti-EGFR therapy. Data on the prognostic value allele frequency are scarce. The present study aims analyse corresponding exon their frequency, patients with KRAS-mutated mCRC. A sum 538 (adenocarcin...

Hypoxia and blood flow heterogeneities are characteristics of solid tumours and are major obstacles for therapy. Exploiting the biology of nitric oxide (NO), a small radical with multiple functions, is particularly attractive to circumvent these sources of resistance and to sensitise tumour to cytotoxic treatments such as radiotherapy and chemotherapy. Indeed, while NO mediates angiogenic effec...

Nonsense-mediated mRNA decay (NMD) is a quality-control mechanism that selectively degrades mRNAs harboring premature termination (nonsense) codons. If translated, these mRNAs can produce truncated proteins with dominant-negative or deleterious gain-of-function activities. In this review, we describe the molecular mechanism of NMD. We first cover conserved factors known to be involved in NMD in...

Synaptic currents were recorded in HL-3 saline from muscle 6 in segment A2 using a twoelectrode voltage clamp. For EJC recordings, stimuli consisted of 0.2 ms pulses delivered at 1 Hz from an isolated pulse stimulator (AM systems 2100), gated by pClamp software (Axon Instruments). Intracellular glass microelectrodes were filled with 3 M KCl (voltage monitor electrode, resistance 7–10 MQ) or sat...

The exon junction complex (EJC) is deposited on mRNAs as a consequence of splicing and influences postsplicing mRNA metabolism. The Mago-Y14 heterodimer is a core component of the EJC. Recently, the protein PYM has been identified as an interacting partner of Mago-Y14. Here we show that PYM is a cytoplasmic RNA-binding protein that is excluded from the nucleus by Crm1. PYM interacts directly wi...

Introns are found in 5' untranslated regions (5'UTRs) for 35% of all human transcripts. These 5'UTR introns are not randomly distributed: Genes that encode secreted, membrane-bound and mitochondrial proteins are less likely to have them. Curiously, transcripts lacking 5'UTR introns tend to harbor specific RNA sequence elements in their early coding regions. To model and understand the connectio...

The Rockefeller University Press $30.00 J. Cell Biol. www.jcb.org/cgi/doi/10.1083/jcb.201310090 Cite by DOI: 10.1083/jcb.201310090 JCB 1 of 16 J. Kasprowicz and S. Kuenen contributed equally to this paper. Correspondence to Patrik Verstreken: [email protected] Abbreviations used in this paper: -Ada, -adaptin; ANOVA, analysis of variance; a.u., arbitrary unit; Chc, Clathrin hea...