Researchers of the University of Edinburgh have identified mutations in BRD4 as the disease-causing genetic defect in patients with a Cornelia-de-Lange-like condition and have thus provided new [...]
SELENBP1 has been reported to be involved in the development of several cancers, although its precise function has remained elusive until now. Now scientists have uncovered that autosomal [...]
As a transcription factor, the gene product of NFE2L2, the nuclear factor-erythroid 2-related factor 2 (NRF2), regulates the expression of a large number of genes including specifically various [...]
An international group of researchers have revealed de novo mutations in SLC25A24 as the genetic cause of Gorlin-Chaudry-Moss syndrome (GCMS) in five affected children. This congenital disease [...]
The PRKCE gene encodes protein kinase C-epsilon, a member of a large protein kinase family of enzymes that activate important proteins and are involved in cellular functions as for example [...]
MDM2 encodes the murine double minute 2 protein, an E3 ubiquitin ligase and a principal regulator of the p53 tumor suppressor, to which it is linked in a negative feedback loop. P53 plays an [...]
Autosomal recessive mutations of the CDK10 gene have been revealed as causing a newly described syndrome characterized by a combination of severe growth retardation, dysmorphic facial features, [...]
Researchers led by Dr Silke Kaulfuß at the Institute of Human Genetics Göttingen have uncovered a new approach that may increase the efficacy of the standard therapy to treat colorectal cancer [...]
It is an acute and life-threatening functional disturbance of the heart with symptoms similar to a heart attack, and it really is not so rare: Takotsubo syndrome (TTS) is also called [...]
The so-called KEOPS protein complex has been implicated in a range of functions. Among others, it regulates a chemical modification of tRNA which ensures accurate translation, and it also acts in [...]
