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 [...]
Autosomal recessive variants in TRAPPC9 have for the first time been linked to a congenital glycosylation defect. Researchers identified biallelic missense variants of TRAPPC9 in three patients [...]
CIROP is a newly discovered gene which has an essential function in developing and distinguishing left and right in the human body. It is one of five genes that a team of scientists led by Bruno [...]
A gene variant in LZTFL1 is probably responsible for a twofold increased risk of dying of COVID-19. This has been found by British scientists at the University of Oxford. Using a machine learning [...]
Variants in the gene ONECUT1 cause both, dominant and recessive forms of monogenic diabetes mellitus and are also involved in the development of multifactorial diabetes. These are results of an [...]
Aminoacyl-tRNA synthetases play a crucial role in protein synthesis. They are responsible for loading specific amino acids on transfer RNAs (tRNAs), corresponding to their sequence. They are also [...]
Permanent and efficient inactivation of the TTR gene by genome editing is the aim of a novel therapeutic approach currently being investigated for the treatment of a rare congenital disease, [...]
