Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

The role of the axonal guidance cue Semaphorin3A in innervation of the postnatal heart in health and disease.

During cardiac development the heart is innervated by the autonomous nervous system. After development, neurons of the autonomic nervous system have limited capacity for growth and regeneration. However, in the past decades, it has become clear that cardiac nerves can regenerate after cardiac damage.

Directing oat groat heat treatment conditions towards increased protein extractability.

Oat-based liquid and semi-solid dairy alternatives require extractable proteins for nutritional and technological purposes. However, oats are industrially heat treated ('kilned') to inactivate endogenous lipases thereby avoiding rancidity development. Such heat treatment results in a protein extractability decrease.

Considerations in the search for epistasis.

Epistasis refers to changes in the effect on phenotype of a unit of genetic information, such as a single nucleotide polymorphism or a gene, dependent on the context of other genetic units. Such interactions are both biologically plausible and good candidates to explain observations which are not fully explained by an additive heritability model. However, the search for epistasis has so far largely failed to recover this missing heritability.