Somatic mutations in SLC30A1 cause disruptions in cellular zinc homeostasis leading to primary aldosteronism. This is reported by the authors of a study recently published in Nature Genetics. [...]
Homozygous truncating variants in AXIN1 underlie a previously undescribed specific skeletal disorder with a pathological increase in bone tissue and hip dysplasia. The authors of a study [...]
RHINO, the protein encoded by the RHNO1 gene, has a previously unknown function in repairing DNA damage. A study recently published in Science demonstrates that RHINO plays a crucial role in a [...]
Biallelic missense variants found in the ERI1 gene result in disrupted ribosome biogenesis, causing a specific and previously unreported type of bone and cartilage disorder. This discovery was [...]
A potential approach to correct the FMR1 gene defect underlying fragile X syndrome (FXS) relies on the body’s own DNA repair mechanisms. This is described by researchers in the journal Cell. FXS [...]
Heterozygous variants in POLR1A resulting in a reduced protein function underlie a more variable phenotype than previously known. A study published in the American Journal of Human Genetics [...]
The role of DYRK1A might be a starting point for developing a molecular strategy to pharmacologically influence genomic instability. DYRK1A encodes the dual specificity tyrosine [...]
Specific heterozygous variants in HMGB1 cause an extremely rare congenital disorder, called BPTAS, which is characterized mainly by limb malformations including smaller-than-normal or extra [...]
A deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood. In a study published in the New England Journal of Medicine, scientists [...]
Dominantly or recessively inherited variants in COL7A1 cause dystrophic epidermolysis bullosa (DEB), a devastating skin disorder. A gene therapy approach to treat DEB on a molecular basis has now [...]
