News tagged with nonsense mutations
Study identifies two chemicals that could lead to new drugs for genetic disorders
UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. Published in the Sept. 28 edition of the Journal of Experimental Medicine, the findings could ...
Medicine & Health / Medical research
Sep 28, 2009 |
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New findings raise questions about process used to identify experimental drug
A study by National Institutes of Health (NIH) researchers has revealed surprising new insights into the process used to initially identify an experimental drug now being tested in people with cystic fibrosis and muscular ...
Medicine & Health / Medical research
Feb 03, 2009 |
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Search results for nonsense mutations
Birds invent new songs in evolutionary fast-forward
Native North Island saddlebacks have developed such distinctive new songs in the last 50 years that it is not clear if birds on one island recognise what their neighbors are singing about, a Massey University ...
May 02, 2011 |
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Embracing our differences
While it may have been a momentous occasion in scientific history, the assembly of the first human genome sequence in 2003 was only a first step toward understanding the extent and biological importance of ...
Jan 10, 2011 |
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Transcription factor scan identifies genetic cause for inherited blindness
Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of vision that in many instances leads to legal blindness at the end stage.
Nov 18, 2010 |
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Discovered gene causes Kabuki syndrome
Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. ...
Aug 15, 2010 |
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Sequencing a single genome yields cause of inherited bone disorder
Combining new, whole-genome sequencing technology with classic genetic approaches to understanding inherited diseases, Duke University Medical Center geneticists and colleagues at Johns Hopkins have discovered two gene mutations ...
Jun 17, 2010 |
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Researchers Use New Sequencing Strategies To Discover Rare Inherited Illness Rapidly
(PhysOrg.com) -- A team of researchers from the National Human Genome Research Institute (NHGRI) has demonstrated a new technical strategy that promises to rapidly determine the genetic cause for very rare inherited illnesses. ...
May 07, 2010 |
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New hope exists in treating inherited disease by suppressing DNA mutations
Genetic mutation can disrupt the way human cells make proteins, which in turn leads to inherited disease. David Bedwell, a professor in the University of Alabama at Birmingham (UAB) Department of Microbiology, says scientists ...
Medicine & Health / Medical research
Apr 26, 2010 |
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Five new human genomes decoded, marking a transition to more personalized medicine
It seems longer, but it was only seven years ago that the Human Genome Project deciphered the sequence of the 3 billion nucleotides that make up a single human blueprint or genome. That project cost more than $3 billion and ...
Mar 12, 2010 |
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Finding Charcot-Marie-Tooth gene ends a quest and begins new era of personalized genomic medicine
Baylor College of Medicine's Dr. James Lupski came to the end of a personal quest earlier this year when the Baylor Human Genome Sequencing Center sequenced his complete genome and identified the gene involved in his own ...
Mar 10, 2010 |
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The nonsense in our genes: 1 in 200 human genes superfluous?
1 in 200 of our human genes can be inactivated with no detectable effect on our health. A study by Wellcome Trust Sanger Institute scientists raises new questions about the effects of gene loss on our wellbeing and evolution.
Feb 05, 2009 |
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List of search results for nonsense mutations
