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 [...]
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary disorders of the heart. It causes thickening of the heart muscle, which may impair the heart’s function. Several [...]
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 [...]
