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Latest Mutation Stories

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...

2012-05-16 22:52:06

Landscape of cancer genes and mutational processes in breast cancer In a study published today in Nature, researchers describe nine new genes that drive the development of breast cancer. This takes the tally of all genes associated with breast cancer development to 40. The team examined all the genes in the genomes of 100 cases of breast cancer. The mutated cancer-causing genes were different in different cancer samples, indicating that breast cancer is genetically very diverse....

2012-05-07 20:30:41

Such deletions could confer survival advantage on tumors, a challenge to '2-hit theory' of tumor suppressor action Scientists at Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan-Kettering Cancer Center have amassed strong experimental evidence implying that commonly occurring large chromosomal deletions that are seen in many cancer types contain areas harboring multiple functionally linked genes whose loss, they posit, confers a survival advantage on growing tumors. Looking...

2012-05-03 15:53:42

A research group from Ben-Gurion University of the Negev (BGU) and Soroka University Medical Center led by Prof. Ohad Birk has discovered genetic mutations that lead to intestinal blockages in newborns from two Bedouin tribes in Israel. The new paper published in the American Journal of Human Genetics identifies mutations in gene GUCY2C that abrogates its function. The mutations were identified in two different Negev Bedouin tribes where there were instances of intestinal obstructions in...

2012-05-02 09:58:03

Touch sensitivity is hereditary and linked to genetic mechanisms that support hearing Vision and hearing are so crucial to our daily lives that any impairments usually become obvious to an affected person. Although a number of known genetic mutations can lead to hereditary defects in these senses, little is known about our sense of touch, where defects might be so subtle that they go unnoticed. In the 1 May issue of the online, open-access journal PLoS Biology, Gary Lewin's laboratory...

2012-04-27 22:05:03

Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning. CAMH Senior Scientist Dr. John Vincent and his team found a mutation in the gene NSUN2 among three sisters with intellectual disability, a finding to be published in the May issue of the American Journal of Human Genetics. The discovery was made after mapping...

2012-04-25 20:19:20

A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome. The new study appears online April 25 in the journal Neuron. Fragile-X syndrome is the most common cause of inherited intellectual disability. It is also counted among the autism spectrum...

2012-04-23 13:15:39

Bacteria evolved way to safeguard crucial genetic material Just as banks store away only the most valuable possessions in the most secure safes, cells prioritize 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 in Nature, shows that bacteria have evolved a mechanism that protects important genes from random mutation, effectively reducing the risk of...

First Gene Linked To Common Form Of Psoriasis Identified
2012-04-19 11:40:06

Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition. The research shows that rare mutations in the CARD14 gene, when activated by an environmental trigger, can lead to plaque psoriasis. This type of psoriasis accounts for 80 percent of all cases and is characterized by dry, raised, red patches covered with silvery scales that can be itchy and painful. The new...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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