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mutation

Year
6 May 2022 Drawing of two chromosomes in which a highlighted area is switched around.

Flip-flop genome

Science Researchers at EMBL Heidelberg found that inversions in the human genome are more common than previously thought, which impacts our understanding of certain genetic diseases.

2022

science

12 September 2013

Potential new drug target for cystic fibrosis

Science Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg and Regensburg University, both in Germany, and the University of Lisboa, in Portugal, have discovered a promising potential drug target for cystic fibrosis. Their work, published online today in Cell, also uncovers a…

2013

science

31 January 2013

The mutation police

Science Scientists at the EMBL-European Bioinformatics Institute (EMBL-EBI) and the MRC Laboratory of Molecular Biology in the UK have discovered how our genome keeps the effects of mutations in check. The discovery, published in the journal Cell, will help in the study of diseases such as cancer and…

2013

science

22 April 2012 Abstract image showing DNA code

A matter of priorities

Science Just as banks store away only the most valuable possessions in the most secure safes, cells prioritise which genes they guard most closely, researchers at the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) have found. The study, published online today…

2012

science

19 January 2012 Artist's impression of a chromosome exploding

Rigged to explode?

Science An inherited mutation in a gene known as the guardian of the genome is likely the link between exploding chromosomes and some particularly aggressive types of cancer, scientists at the European Molecular Biology Laboratory (EMBL), the German Cancer Research Centre (DKFZ) and the University…

2012

science

2 February 2011

The human genome’s breaking points

Science A detailed analysis of data from 185 human genomes sequenced in the course of the 1000 Genomes Project, by scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, in collaboration with researchers at the Wellcome Trust Sanger Institute in Cambridge, UK, as well as the…

2011

science

8 April 2008

An unexpected way to cause leukaemia

Science Leukaemia – cancer of blood or bone marrow – is caused by mutations that allow defective blood cells to accumulate and displace healthy blood. To devise effective therapies it is crucial to know which mutations cause leukaemia and which cell type gives rise to leukaemic cells. Researchers from…

2008

science

8 July 2007

A gene that protects from kidney disease

Science Researchers from the European Molecular Biology Laboratory (EMBL) and the University of Michigan have discovered a gene that protects us against a serious kidney disease. In the current online issue of Nature Genetics they report that mutations in the gene cause nephronopthisis (NPHP) in humans and…

2007

science

25 February 2007

A first glimpse of the influenza replication machine

Science In 1918, 50 million people died during a worldwide influenza pandemic caused by mutation of a bird-specific strain of the influenza virus. Recently H5N1, another highly infectious avian strain has caused outbreaks of bird flu around the world. There is great concern that this virus might also…

2007

science

6 October 2005

Defusing dangerous mutations

Science Mutations in genes are the basis of evolution, so we owe our existence to them. Most mutations are harmful, however, because they cause cells to build defective proteins. So cells have evolved quality control mechanisms that recognize and counteract genetic mistakes. Now scientists of the Molecular…

2005

science

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