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 [...]
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 [...]
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 [...]
Scientists from Norway and Switzerland uncovered for the first time a mutation in EPO, the gene encoding erythropoetin, as the genetic cause of an autosomal dominantly inherited form of [...]
An important role of the EDC4 gene in the intricate network regulating the repair of DNA damage and in cancer development has now been uncovered. In a study recently published in Nature [...]
