Human Molecular Genetics

Cells from skin create model of blinding eye disease

For the first time, Wisconsin researchers have taken skin from patients and, using induced pluripotent stem cell (iPSC) technology, turned them into a laboratory model for an inherited type of macular degeneration.

Nov 08, 2012
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Severe scoliosis linked to rare mutations

Children with rare mutations in two genes are about four times more likely to develop severe scoliosis than their peers with normal versions of the genes, scientists have found. The research at Washington ...

Jun 13, 2014
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Different eggs in adolescent girls and adult women

Are the eggs produced by adolescent girls the same as the ones produced by adult women? A recent study published in Human Molecular Genetics by Professor Kui Liu from the University of Gothenburg in Sweden ...

Feb 26, 2014
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Cancer drug prevents build-up of toxic brain protein

Researchers at Georgetown University Medical Center have used tiny doses of a leukemia drug to halt accumulation of toxic proteins linked to Parkinson's disease in the brains of mice. This finding provides the basis to plan ...

May 10, 2013
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Gene therapy protects mice from heart condition

A new gene therapy developed by researchers at the University of Missouri School of Medicine has been shown to protect mice from a life-threatening heart condition caused by muscular dystrophy.

Aug 20, 2014
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Lifestyle influences metabolism via DNA methylation

An unhealthy lifestyle leaves traces in the DNA. These may have specific effects on metabolism, causing organ damage or disease. Scientists of Helmholtz Zentrum München have now identified 28 DNA alterations associated with ...

Sep 20, 2013
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Gene linked to common intellectual disability

(Medical Xpress)—University of Adelaide researchers have taken a step forward in unravelling the causes of a commonly inherited intellectual disability, finding that a genetic mutation leads to a reduction in certain proteins ...

Nov 13, 2013
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