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, [...]
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 [...]
Autosomal dominant and recessive variants of the CLCN3 gene cause neurodevelopmental disease. Scientists of an international research collaboration studied patients with global developmental [...]
Chromodomain-helicase-DNA-binding protein 6, encoded by the CHD6 gene, is a so-called chromatin remodeller. These proteins modify the chromatin architecture in the cell, thereby regulating the [...]
Using a machine learning model, researchers have shown in a recent study that, depending on the position of mutations, variants of the SRCAP gene do not only cause Floating Harbor syndrome but [...]
