News tagged with genetic abnormalities
New animal model gives insights into mechanisms of Parkinson's disease pathogenesis
In Parkinson's disease, the protein "alpha-synuclein" aggregates and accumulates within neurons. Specific areas of the brain become progressively affected as the disease develops and advances. The mechanism underlying this ...
Parkinson's & Movement disorders
May 24, 2013 |
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Breakthrough for IVF?
Elsevier today announced the publication of a recent study in Reproductive BioMedicine Online on 5-day old human blastocysts showing that those with an abnormal chromosomal composition can be identified by the rate at whic ...
Obstetrics & gynaecology
May 16, 2013 |
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BPA harms human reproduction by damaging chromosomes, disrupting egg development
A Washington State University researcher has found new evidence that the plastic additive BPA can disrupt women's reproductive systems, causing chromosome damage, miscarriages and birth defects.
Medical research
Sep 24, 2012 |
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Scientists find that chromosomal abnormalities are associated with aging and cancer
(Medical Xpress) -- Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a ...
Genetics
May 08, 2012 |
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Extra chromosome 21 removed from Down syndrome cell line
(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's ...
Medical research
Nov 09, 2012 |
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Team discovers potential blood test for autistic patients
(Medical Xpress)—Results of a recent clinical study by researchers from Western and the University of Arkansas reveal the presence of a unique blood marker, which may further the understanding of possible gut linked environmental ...
Autism spectrum disorders
Jan 29, 2013 |
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Scientists identify 'clean-up' snafu that kills brain cells in Parkinson's disease
Researchers at Albert Einstein College of Medicine of Yeshiva University have discovered how the most common genetic mutations in familial Parkinson's disease damage brain cells. The study, which published online today in ...
Parkinson's & Movement disorders
Mar 03, 2013 |
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Research links circadian rhythms to sudden cardiac death
A fundamental discovery reported in the March 1st issue of the journal Nature, uncovers the first molecular evidence linking the body's natural circadian rhythms to sudden cardiac death (SCD). Ventricular arrhythmias, or abn ...
Cardiology
Feb 22, 2012 |
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First evidence for genetic cause for Barrett's oesophagus found
Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on ...
Genetics
Sep 09, 2012 |
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Study finds molecular 'signature' for rapidly increasing form of esophageal cancer
During the past 30 years, the number of patients with cancers that originate near the junction of the esophagus and stomach has increased approximately 600 percent in the United States. The first extensive probe of the DNA ...
Cancer
Mar 24, 2013 |
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New genetic link found between normal fetal growth and cancer
Two researchers at the National Institutes of Health discovered a new genetic link between the rapid growth of healthy fetuses and the uncontrolled cell division in cancer. The findings shed light on normal development and ...
Genetics
Apr 09, 2013 |
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Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Mitochondrial metabolic regulator SIRT4 guards against DNA damage
(Medical Xpress)—Healthy cells don't just happen. As they grow and divide, they need checks and balances to ensure they function properly while adapting to changing conditions around them.
Cancer
Apr 05, 2013 |
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Researchers identify dozens of new de novo genetic mutations in schizophrenia
Columbia University Medical Center (CUMC) researchers have identified dozens of new spontaneous genetic mutations that play a significant role in the development of schizophrenia, adding to the growing list of genetic variants ...
Genetics
Oct 03, 2012 |
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Baby's genome deciphered prenatally from parents' lab tests
Scientists have successfully sequenced the genome of a baby in the womb without tapping its protective fluid sac. This non-invasive approach to obtaining the fetal genome is reported in the June 6 issue of ...
Genetics
Jun 06, 2012 |
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