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Latest Mutation Stories

2012-06-21 21:08:20

Findings could lead to future therapeutic targets UCLA researchers have combined two tools — gene expression and the use of peripheral blood -- to expand scientists' arsenal of methods for pinpointing genes that play a role in autism. Published in the June 21 online edition of the American Journal of Human Genetics, the findings could help scientists zero in on genes that offer future therapeutic targets for the disorder. "Technological advances now allow us to rapidly sequence...

2012-06-18 11:24:22

Tiny, transient loops of genetic material, detected and studied by the hundreds for the first time at Brown University, are providing new insights into how the body transcribes DNA and splices (or missplices) those transcripts into the instructions needed for making proteins. The lasso-shaped genetic snippets – they are called lariats – that the Brown team reports studying in the June 17 edition of Nature Structural & Molecular Biology are byproducts of gene transcription....

2012-06-15 10:13:25

The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene — and its associated health risks — may be more common than previously believed. Writing this month (June 2012) in the American Journal of Medical Genetics, a team of Wisconsin researchers reports that the cascade of genetic amino acid repeats, which accumulate over generations and...

2012-06-11 05:25:53

(Ivanhoe Newswire) --A game-changing find challenges previously held beliefs about the role of mutations in cancer development. Researchers at the Fred Hutchinson Cancer Research Center in Seattle say their findings show that the number of new mutations is significantly lower in cancers than in normal cells. "This is completely opposite of what we see in nuclear DNA, which has an increased overall mutation burden in cancer," cancer geneticist Jason Bielas, Ph.D., an assistant member of the...

2012-06-08 09:44:49

In exploring the genetics of mitochondria — the powerhouse of the cell — researchers at Fred Hutchinson Cancer Research Center have stumbled upon a finding that challenges previously held beliefs about the role of mutations in cancer development. For the first time, researchers have found that the number of new mutations are significantly lower in cancers than in normal cells. "This is completely opposite of what we see in nuclear DNA, which has an increased overall mutation...

2012-05-29 12:38:58

Research finds 20 distinct mutations A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found. The research, published online in Nature Genetics (27 May) discovered 20 distinct mutations in a specific gene found in patients with the rare adrenal disease, Familial Glucocorticoid Deficiency (FGD). The potentially fatal disease means affected children are unable to produce a hormone...

2012-05-28 19:14:33

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics. IMAGe* syndrome is a rare developmental disorder which can affect fetal growth, resulting in smaller than average body and organ size. Without treatment, the disorder can have potentially life-threatening consequences from adrenal gland failure. The...

2012-05-23 18:57:57

Mutated and intact proteins of the cytoskeleton form abnormal aggregates Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies. This was discovered by researchers from the RUB Heart and Diabetes Center NRW in Bad Oeynhausen led by PD Dr. Hendrik Milting in an interdisciplinary research project with colleagues from the universities in Karlsruhe, Würzburg and Bielefeld. They report...

2012-05-19 00:12:17

A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases. "I knew there would be rare variation but had no idea there would be so much of it," said the senior author of the research, John Novembre, an assistant professor of ecology and evolutionary biology and of bioinformatics at UCLA. A team of life scientists studied 202 genes in 14,002...

2012-05-16 23:33:22

What can a fish tell us about human brain development? Researchers at Duke University Medical Center transplanted a set of human genes into a zebrafish and then used it to identify genes responsible for head size at birth. Researchers at Duke University Medical Center transplanted a set of human genes into a zebrafish and then used it to identify genes responsible for head size at birth. Head size in human babies is a feature that is related to autism, a condition that recent figures...


Word of the Day
bibliopole
  • A bookseller; now, especially, a dealer in rare and curious books.
This word comes from a Greek phrase meaning 'book seller.'
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