Identification of biallelic variants in the CCR2 gene and subsequent functional investigations revealed a previously undescribed mechanism leading to a complex and progressive lung disease. An [...]
Based on the identification of pathogenic de novo missense variants of U2AF2 in patients with neurodevelopmental disorders (NDDs), an international team of researchers gained novel insights into [...]
Using a novel filtering approach in the analysis of whole-genome sequencing data, researchers identified ultra-rare disease-associated variants in the SMAD4 gene. In their study published in the [...]
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 [...]
