Autor: Clinical genetics
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Base editing corrects mutation and slows motor neuron disease in mouse model
In a study published in Molecular Therapy Advances a team of researchers led by Professor Haruhisa Inoue (Center for iPS Cell Research and Application, Kyoto University) and Professor Yuishin Izumi (Tokushima University) demonstrate that adenine base e…
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A tiny worm helps scientists unravel a genetic clue to kidney disease
A microscopic worm that has no kidneys is helping Rutgers scientists understand a genetic change suspected of causing a serious inherited kidney disease. By making a precise change in the roundworm’s DNA and following the proteins it produces, research…
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A tiny worm helps scientists unravel a genetic clue to kidney disease
A microscopic worm that has no kidneys is helping Rutgers scientists understand a genetic change suspected of causing a serious inherited kidney disease. By making a precise change in the roundworm’s DNA and following the proteins it produces, research…
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Rare genetic variant identified as new cause of neurodevelopmental disorders
Researchers at Baylor College of Medicine and Texas Children’s Hospital’s Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic change that appears to cause a newly recognized neurodevelopmental disorder. The discovery prov…
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Rare genetic variant identified as new cause of neurodevelopmental disorders
Researchers at Baylor College of Medicine and Texas Children’s Hospital’s Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic change that appears to cause a newly recognized neurodevelopmental disorder. The discovery prov…
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Study reveals surprising cause of immune challenges in people with Down syndrome
Getting sick can look very different for people with Down syndrome (DS); illnesses that are mild for most people may lead to serious complications, including pneumonia, hospitalization or the need for intensive care.
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Study reveals surprising cause of immune challenges in people with Down syndrome
Getting sick can look very different for people with Down syndrome (DS); illnesses that are mild for most people may lead to serious complications, including pneumonia, hospitalization or the need for intensive care.
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Gene that drives blood cancer drug resistance uncovered with new CRISPR activation tool
Researchers have uncovered a previously unknown gene that causes resistance to a leading blood cancer drug, as well as several genes that accelerate lymphoma growth, using a powerful new CRISPR activation library.
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Gene that drives blood cancer drug resistance uncovered with new CRISPR activation tool
Researchers have uncovered a previously unknown gene that causes resistance to a leading blood cancer drug, as well as several genes that accelerate lymphoma growth, using a powerful new CRISPR activation library.
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Million-cell map of hypertrophic cardiomyopathy could pave the way for precision treatments
An international team led by researchers from Harvard Medical School, Brigham and Women’s Hospital, and the Max Delbrück Center for Molecular Medicine in Germany has created a detailed map of the molecular activity underlying hypertrophic cardiomyopath…