A postzygotic mutation in RHOA has been identified as the genetic cause of a distinct mosaic disorder in humans. RHOA is a member of the Rho family of GTPases, which have many roles in [...]
Variants of the MRAP2 gene have already been described as causing monogenic obesity. However, the precise functional consequences of these variants have remained unclear. Now a large study [...]
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 [...]
Extremely fragile bones are the reason why mainly children, but also adults with brittle bone disease will frequently break their bones, often even without any apparent injury. The genetic [...]
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 [...]
Genomics, epigenomics and transcriptomics are crucial elements in modern biomedical research towards personalized medicine. Next-generation sequencing, the technology that allows to [...]
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 [...]
