Researchers from Germany and Japan identified EPHA2 as a new gene that causes Pendred syndrome if heterozygous mutations in the gene occur in combination with mutations in the SLC26A4 gene. [...]
The gene product of tmem120a in mice is involved in sensing mechanical pain. Canadian scientists report in Cell that they identified the protein as an ion channel with mechanosensitive [...]
A recently published study describes that the ARID1A gene plays a role in hormone dependency of tumor cells in breast cancer and provides new insights into the processes that lead to endocrine [...]
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 [...]
