Screening for mutations influencing the migration of nerve cells in mice, scientists found a gene that plays a role in the transport of proteins within nerve cells. If less of the protein is present in the developing mouse, ...
Feb 1, 2018
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A study of families with rare blood sugar conditions has revealed a new gene thought to be critical in the regulation of insulin, the key hormone in diabetes.
Jan 15, 2018
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Researchers have known for decades that fevers in the first trimester of pregnancy increase risk for some heart defects and facial deformities such as cleft lip or palate. Exactly how this happens is unclear. Scientists have ...
Oct 10, 2017
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The Zika virus, linked to congenital birth defects and miscarriages, suppresses a pregnant woman's immune system, enabling the virus to spread and increasing the chances an unborn baby will be harmed, a Keck School of Medicine ...
Aug 21, 2017
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(HealthDay)—A simple and rapid blood test can detect GLUT1 deficiency syndrome (DS), according to a study published online May 26 in the Annals of Neurology.
Jun 23, 2017
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Researchers have identified a gene that plays a key role in the formation of neural tube defects, a problem commonly found in infants of pregnant women with diabetes. This is the first time the gene has been shown to play ...
May 5, 2017
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A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.
Mar 21, 2017
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Using a new cellular model, innovative gene therapy approaches for the hereditary immunodeficiency Chronic Granulomatous Disease can be tested faster and cost-effectively in the lab for their efficacy. A team of researchers ...
Mar 21, 2017
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New King's College London research reveals how genetic defects can lead to epilepsy in children.
Mar 14, 2017
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In a new study, Yale researchers identified a novel genetic defect that prevents brain tumor cells from repairing damaged DNA. They found that the defect is highly sensitive to an existing FDA-approved drug used to treat ...
Feb 1, 2017
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