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, [...]
Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration [...]
PCDHGC4 is the first member of the protein family of clustered protocadherins that has been linked to a congenital human disorder. An international research collaboration led by scientists from [...]