News tagged with nijmegen breakage syndrome
Study shows how defective DNA repair triggers 2 neurological diseases
Jan 15, 2009 |
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Scientists at St. Jude Children's Research Hospital have teased apart the biological details distinguishing two related neurological diseases—ataxia telangiectasia-like disease (ATLD) and Nijmegen breakage syndrome (NBS).
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Protein 'chatter' linked to cancer activation
Aug 13, 2007 |
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Scientists have found the existence of cross-talk between human chromosome ends and the protein complexes central to the stability of the entire human genome, a “chat” that contributes to cancer development.
Protein's essential role in repairing damaged cells revealed
Biology /
Jan 06, 2009 |
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University of Michigan researchers have discovered that a key protein in cells plays a critical role in not one, but two processes affecting the development of cancer.
Childhood kidney disorder has lasting effects
Sep 24, 2009 |
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A kidney condition that can arise in children and was until recently believed to disappear after puberty may persist into adulthood and cause significant long-term complications, according to a study appearing in an upcoming ...
No test needed for hand-foot genital syndrome in women without HOXA13 gene mutation
Oct 19, 2009 |
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Hugh S. Taylor, M.D., professor in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale, and colleagues have found that women without mutations of the HOXA13 gene do not need to be subjected to x-rays ...
Can strep throat cause OCD, Tourette syndrome?
Sep 30, 2009 |
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New research shows that streptococcal infection does not appear to cause or trigger Tourette syndrome or obsessive-compulsive disorder (OCD). The research is published in the September 30, 2009, online issue of Neurology®, the me ...
Metabolic syndrome risk factors drive significantly higher health care costs
Sep 17, 2009 |
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Risk factors for metabolic syndrome, such as obesity, high blood pressure, and elevated blood lipid levels, can increase a person's healthcare costs nearly 1.6-fold, or about $2,000 per year. For each additional risk factor ...
Researchers identify fifth gene responsible for Joubert syndrome
Jun 11, 2007 |
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An international study by researchers at Seattle Children’s Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause ...
Advances in screening have offset an increase in Down syndrome
Oct 26, 2009 |
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The number of diagnoses of Down's syndrome has increased by almost three quarters (71%) from 1989/90 to 2007/08, largely due to the considerable increase in the number of older mothers over this period. However, the number ...
Understanding the implications of prenatal testing for Down syndrome
Sep 14, 2009 |
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With new prenatal tests for Down syndrome on the horizon promising to be safer, more accurate, and available to women earlier in pregnancy, the medical community must come together and engage in dialogue about the impact ...
Metabolic syndrome linked to liver disease in obese teenaged boys
Sep 29, 2009 |
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Researchers studying a large sample of adolescent American boys have found an association between metabolic syndrome, which is a complication of obesity, and elevated liver enzymes that mark potentially serious liver disease.
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