Mutations in the SYK gene are responsible for a newly described phenotype with severe immunodeficiency, multi-organ inflammatory disease involving the intestines, liver, skin, joints and central [...]
Dysregulated expression of the gene EN1, or engrailed-1, due to a remarkable genetic mechanism, leads to a rare congenital disorder with severe limb malformations. This is reported in Nature by [...]
Editing of the BCL11A gene by CRISPR/Cas9 might be a future gene therapy approach to treat sickle cell disease and beta thalassemia. This is suggested by the first results of a pilot study led by [...]
WAPL encodes the cohesin release factor WAPL. Cohesin, a ring-shaped protein complex of several subunits, plays an essential role in maintaining sister chromatid cohesion for example during DNA [...]
A point mutation in CLCN6 has been identified as the genetic cause of a severe, lysosomal neurodegenerative disorder. Researchers from Germany, Italy and the United States detected the identical [...]
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 [...]
