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Institut für Humangenetik der Universitätsmedizin Göttingen Institut für Humangenetik der Universitätsmedizin Göttingen
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News

Home » News » Page 4
0
By KB
In News, Research
Posted 18. October 2018

Rapid aging: Biallelic POLR3A mutations cause neonatal progeroid syndrome

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 [...]

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0
By KB
In News, Research
Posted 21. August 2018

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. [...]

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0
By KB
In News, Research
Posted 25. April 2018

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 [...]

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0
By KB
In Events, News
Posted 8. February 2018

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 [...]

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0
By KB
In News, Research
Posted 8. November 2017

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 [...]

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0
By KB
In News, Research
Posted 11. September 2017

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, [...]

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By KB
In News, Research
Posted 6. September 2017

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 [...]

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0
By KB
In News, Research
Posted 4. September 2017

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 [...]

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0
By KB
In News, Research
Posted 15. August 2017

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 [...]

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0
By KB
In News, Research
Posted 15. May 2017

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, [...]

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