Autosomal dominant and recessive variants of the CLCN3 gene cause neurodevelopmental disease. Scientists of an international research collaboration studied patients with global developmental [...]
Chromodomain-helicase-DNA-binding protein 6, encoded by the CHD6 gene, is a so-called chromatin remodeller. These proteins modify the chromatin architecture in the cell, thereby regulating the [...]
Using a machine learning model, researchers have shown in a recent study that, depending on the position of mutations, variants of the SRCAP gene do not only cause Floating Harbor syndrome but [...]
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 [...]
