Biallelic variants in WARS1 underlying autosomal recessive neurodevelopmental disorders have been reported in two recently published international studies led by researchers at the Institute of [...]
WARS1 is one of many key enzymes required for protein synthesis. Genetic variants in WARS1 are rare, with extremely limited evidence implicating it in a clinically heterogeneous autosomal [...]
Loss-of-function variants in SLC47A1 play a causal role in the development of kidney disease. This is one of the results generated by an extensive metaanalysis of genome-wide association studies [...]
In a young patient referred to the Institute of Human Genetics at the University Medical Center Göttingen, the clinical suspicion of Proteus syndrome was made and confirmed by molecular genetic [...]
Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair. The protein encoded by RRM1, ribonucleotide reductase [...]
New insights into how the telomere shelterin protein TPP1, encoded by the ACD gene, interacts with telomerase have recently been published in Nature. In their study, researchers at the University [...]
A study published in Cell suggests that abnormal aggregation of the protein encoded by the TMEM106B gene might be a shared feature in the development of diverse neurodegenerative diseases. [...]
Myc-associated zinc-finger protein, encoded by the MAZ gene, has been identified as a new factor impacting on gene regulation and three-dimensional genome organization. US researchers found that [...]
