New genetic causes of Bloom syndrome identified
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. [...]
An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis
During translation, a number of obstacles have the potential to arrest the ribosomal movement. In yeast, several studies revealed that the evolutionarily conserved Pelota (Pelo) recognizes [...]
Molecular Biology of Hearing and Deafness conference 2018, May 16-19, 2018, in Göttingen
The 11th Molecular Biology of Hearing and Deafness Conference will be held from May 16th to 19th, 2018, at the Max Planck Institute of Biophysical Chemistry in Göttingen. This international [...]
Progeroid malformation syndrome caused by SLC25A24 mutations
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 [...]
CDK10 mutations cause new syndrome of growth retardation, facial dysmorphism, developmental delay and spine malformations
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, [...]
Novel potential strategy to enhance the efficacy of colorectal carcinoma treatment uncovered
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 [...]
UMG researchers are unravelling important functional aspects of “broken-heart syndrome”
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 [...]
You-Hoover-Fong syndrome: Novel TELO2 mutations identified and clinical spectrum expanded
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 [...]
Wiedemann-Rautenstrauch syndrome: Delineation of phenotype
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, [...]
Prospects of estrogen receptor β activation in the treatment of castration-resistant prostate cancer
In a collaborative study, researchers at the Departments of Urology and Experimental Endocrinology, the Institute of Pathology and the Institute of Human Genetics of the University Medical Center [...]