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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 [...]

Mutations in the TELO2 gene were recently described as causing a syndrome characterized by developmental delay, microcephaly and dysmorphic features, which was then termed You-Hoover-Fong [...]

The KCNQ gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these [...]