PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.

PUF60 is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts. PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD pathogenesis is not understood. Using RNA-Seq, we identify human PUF60-regulated exons and show that PUF60 preferentially acts as their activator.

L1210 Cells Overexpressing ABCB1 Drug Transporters Are Resistant to Inhibitors of the N- and O-glycosylation of Proteins.

Overexpression of P-glycoprotein (P-gp, drug transporter) in neoplastic cells is the most frequently observed molecular cause of multidrug resistance. Here, we show that the overexpression of P-gp in L1210 cells leads to resistance to tunicamycin and benzyl 2-acetamido-2-deoxy-α-d-galactopyranoside (GalNAc-α--benzyl). Tunicamycin induces both glycosylation depression and ubiquitination improvement of P-gp.

[Helicobacter pylori and nonspecific intestinal inflammation].

In 50 subjects with non-specific inflammations of the gut the total prevalence of Helicobacter pylori positive antibodies was 28%, while in the control group of blood donors its was 54% Patients with ulcerative colitis had lower antibodies--18%, in Crohn's disease the serum positivity was 33%. The lowest value of antibodies was found in patients taking Sulfasalazine--11%. The serum positivity was substantially higher in inactive ulcerative colitis and Crohn's disease--35% than in patients with signs of high activity--13%.

IgA deficiency in Czech healthy individuals and selected patient groups.

Background: Selective IgA deficiency (IgAD) is the most common immunoglobulin deficiency with a variety of clinical manifestations. The frequency of IgAD differs depending on the ethnic origin and clinical symptoms of investigated persons.

Methods: The prevalence of IgAD (serum IgA level <0.

[IgG subclasses and autoantibodies in adult patients with selective IgA deficiency].

Selective IgA deficiency is the most common primary immunodeficiency disease, but the etiopathogenesis is unknown. In a portion of patients disturbed IgA production is accompanied by various immunological abnormalities. Serological laboratory results of 30 female and 22 male adult patients with selective IgA deficiency were compared with sex- and age-matched healthy controls.