Mutations of the LZTR1 gene are involved in the development of tumors and both, autosomal dominant and autosomal recessive variants have been described to cause Noonan syndrome. Yet, how exactly [...]
DNA methylation is an essential epigenetic mechanism in the regulation of gene expression. Specific enzymes, DNA methyltransferases, add methyl groups to certain nucleotides of the DNA and may [...]
DNA-dependent RNA polymerases catalyze the synthesis of different types of RNA during transcription in eukaryotic cells. The protein encoded by POLR3A forms the largest subunit of the RNA [...]
An international collaboration of scientists including researchers of the Institute of Human Genetics Göttingen have determined specific mutations in POLR3A as the genetic cause of [...]
MSL (male specific lethal) factors commonly act in a protein complex to regulate chromatin-associated gene transcription. MSL3, one of these factors, is responsible for incorporation of MOF, a [...]
Skeletal dysplasias are a large group of disorders characterized by specific anomalies in bone development and associated with features including dislocations of large joints, scoliosis, short [...]
Mutations causing Bloom syndrome have been identified in two new genes by an international collaboration of scientists including also researchers of the Institute of Human Genetics Göttingen. [...]
Protein-bound iron-sulphur clusters are important biological cofactors and play a crucial role in electron transfer reactions. Additionally, they fulfill essential functions in diverse cellular [...]
Genetic or functional dependencies are often used by cancer cells to compensate the loss of function of one gene by the function of another gene in order to persist. By using genome-wide analyses [...]
The proteasome is a complex machinery in each cell which unfolds and breaks down proteins that are misfolded, damaged or no longer needed. The proteasome maturation protein (POMP) is essential [...]
