News tagged with syndrome protein
Mutations in people with cancerous Lynch syndrome prevent a DNA mismatch repair protein from doing its job properly
When the cell’s DNA proofreading system encounters a mismatch in the genome, a number of repair proteins are thrown into action, ripping up the mistake and filling in the correct nucleotides. One of these ...
Mar 23, 2012 |
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Unique spinal fluid proteins found in chronic fatigue, lyme disease syndrome patients
Chronic fatigue syndrome knocks people down with a debilitating fatigue, but researchers have yet to identify an underlying cause. The difficulty in distinguishing CFS from nPTLS is a result of their shared ...
Medicine & Health / Medical research
Mar 10, 2011 |
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New genetic deafness syndrome identified
Ten years ago, scientists seeking to understand how a certain type of feature on a cell called an L-type calcium channel worked created a knockout mouse missing both copies of the CACNA1D gene.
Mar 09, 2011 |
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Researchers pinpoint how one cancer gene functions
For several decades, researchers have been linking genetic mutations to diseases ranging from cancer to developmental abnormalities. What hasn't been clear, however, is how the body's genome sustains such destructive glitches ...
Feb 02, 2011 |
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Peace of mind closes health gap for less-educated
Psychological well-being is powerful enough to counteract the pull of socioeconomic status on the long-term health of the disadvantaged, according to a study by researchers at the University of Wisconsin-Madison.
Oct 25, 2010 |
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Researchers pave the way for a better understanding of HIV infection and AIDS
Dr. Eric A. Cohen, Director of the Human Retrovirology research unit at the Institut de recherches cliniques de Montreal (IRCM), and his team published yesterday, in the online open-access journal PLos Pathogens, the result ...
Medicine & Health / HIV & AIDS
Sep 02, 2010 |
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Scientists identify new drug strategy against fragile X syndrome
Researchers at Emory University School of Medicine have identified a potential new strategy for treating fragile X syndrome, the most common inherited cause of intellectual disability.
Medicine & Health / Medical research
Aug 10, 2010 |
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Study finds Alzheimer's disease link in eyes of children with Down syndrome
A team of researchers has discovered that the protein that forms plaques in the brain in Alzheimer's disease also accumulates in the eyes of people with Down syndrome. The new findings in Down syndrome show that the toxic ...
Medicine & Health / Diseases, Conditions, Syndromes
May 20, 2010 |
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Study finds protein that plays key role in early embryonic development
Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, ...
May 12, 2010 |
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New theory of Down syndrome cause may lead to new therapies
Conventional wisdom among scientists for years has suggested that because individuals with Down syndrome have an extra chromosome, the disorder most likely results from the presence of too many genes or proteins contained ...
Mar 23, 2010 |
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MeCP2 goes global -- redefining the function of the Rett syndrome protein
A paper published online today in Molecular Cell proposes that Methyl CpG binding protein 2 (MeCP2) impacts the entire genome in neurons, rather than acting as a regulator of specific genes. Mutations in MeCP2 cause the au ...
Medicine & Health / Diseases, Conditions, Syndromes
Feb 25, 2010 |
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A common thread links multiple human cognitive disorders
A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome ...
Feb 15, 2010 |
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Early menopause can result in earlier onset dementia
Women experiencing an early onset of menopause could develop dementia at a younger age. Research by Tonnie Coppus of Erasmus MC has indicated this. She studied women with Down Syndrome, who are known to have an early onset ...
Medicine & Health / Diseases, Conditions, Syndromes
Jan 27, 2010 |
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Ultrasound enhances noninvasive Down syndrome tests
The addition of a "genetic sonogram" maximizes the accuracy of non-invasive testing for Down syndrome, said a Baylor College of Medicine researcher who was lead author of a landmark study in the current issue of Obstetrics an ...
Medicine & Health / Diseases, Conditions, Syndromes
Nov 20, 2009 |
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Hoping for a fluorescent basket case: How HIV is assembled and released from infected cells
Although recent advances have raised hopes that a protective vaccine can be developed, acquired immunodeficiency syndrome (AIDS) remains a major public health problem. Much has been learned about HIV-1, the virus that causes ...
Nov 12, 2009 |
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