Heterozygous truncating variants of the SUFU negative regulator of hedgehog signaling (SUFU) gene cause congenital oculomotor apraxia (COMA), a rare eye movement disorder. Patients with this [...]
LMNB1 is a gene that plays an important role in maintaining nuclear envelope stability and in regulating gene expression and is thereby also involved in nervous system development, among other [...]
New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential [...]
De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes [...]
GP2 gene variants may be associated with an increased risk for pancreatic cancer. This is suggested by the results of a meta-analysis of three genome-wide association studies published in Nature [...]
Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the [...]
Variants of the TET2 gene might be a risk factor for the development of neurodegenerative diseases. In their study published in The American Journal of Human Genetics, US researchers initially [...]
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 [...]
