Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.

Background: Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45-60% of JPS cases, with BMPR1a DCVs accounting for 17-38% of JPS cases. Within those with either a BMPR1a or SMAD4 DCV, there is phenotypic variability in location of polyps, risk of malignancy and extra-intestinal manifestations with limited published reports of gene-phenotype association or genotype-phenotype correlation.

Perspectives from the NanoSafety Modelling Cluster on the validation criteria for (Q)SAR models used in nanotechnology.

Nanotechnology and the production of nanomaterials have been expanding rapidly in recent years. Since many types of engineered nanoparticles are suspected to be toxic to living organisms and to have a negative impact on the environment, the process of designing new nanoparticles and their applications must be accompanied by a thorough risk analysis. (Quantitative) Structure-Activity Relationship ([Q]SAR) modelling creates promising options among the available methods for the risk assessment.

[Fetal wound healing: current status and new perspectives].

The characteristic of fetal wound healing is scarless wound repair in early gestation. During the last two decades, intensive research efforts have focused on unraveling the molecular regulations underlying the phenomenon of scarless wound healing. Better understanding of synthesis and degradation will enable us to develop important therapeutic options for the prevention and reduction of scarring.

[The effect of static magnetic fields on osteoblast activity: an in-vitro study].

The aim of the present study was to investigate whether the influence of static magnetic fields can be demonstrated in an osteoblast cell culture. For this in-vitro study we used osteoblasts originating from the embryonal calvariae of rats. The total material (n = 41) was divided in four groups: a) cell cultures submitted to the fields of attracting magnets (n = 11), b) cell cultures in the fields of repelling magnets (n = 10), c) cell cultures under the influence of demagnetized magnets (sham group, n = 11), d) control cultures (n = 9).