Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder. In the American Journal of Human Genetics, the authors describe a role of the [...]
A recent study reports on the MESD gene as a novel disease gene associated with the condition of brittle bone disease, or osteogenesis imperfecta (OI). In this study, an international group of [...]
A recently published study associates a rare mutation in the RABL3 gene with the development of pancreatic cancer: Researchers from the U.S. and Australia report in Nature Genetics on an [...]
A mutation in ARAF was discovered by US researchers as the genetic cause of a very rare and complex lymphatic anomaly and then served as the basis for developing a therapeutic approach. In Nature [...]
Replication factor C subunit 1, the protein encoded by the RFC1 gene, is the largest of five subunits making up the RFC protein complex. This complex loads the ring-shaped PCNA protein onto the [...]
The protein encoded by RRAS2 is a ubiquitously expressed small GTPase with an important function as a signal transducer in the cell. Disturbances in signaling cascades controlling the cell’s [...]
The melanocortin-4 receptor (MC4R) belongs to the family of G protein-coupled receptors, which play essential roles in signal processing and transduction in our cells. MC4R is expressed primarily [...]
Cell-cell adhesion is a fundamental prerequisite for the development of multicellular architecture and is facilitated by specific adhesion molecules. Cadherins, divided into several subfamilies, [...]
The nuclear envelope consists of a double-layered membrane and separates the nucleoplasm from the cytoplasm of the cell. Numerous proteins are anchored in the inner nuclear membrane, interacting [...]
Delta(4)-dihydroceramide desaturase, the protein encoded by DEGS1, acts as a catalyzing enzyme in the synthesis of ceramide, a basic building block of sphingolipids. Sphingolipids are essential [...]
