Researchers at Karolinska Institutet have mapped the genetic mutation behind the incurable disease systemic mastocytosis. The results give insights into the origin of the disease, and the researchers also discovered a protein ...
Apr 12, 2019
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Pathogenic gene mutations causing a type of intractable skin disease can be eliminated from some parts of patients' skin as they age, according to Hokkaido University researchers and their collaborators in Japan. This represents ...
Apr 1, 2019
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A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope.
Apr 1, 2019
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Kristen Criss' father died of complications from a stroke, her mother died from a heart condition at age 40 and her sister passed away at 33.
Mar 29, 2019
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Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
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Mutations in the NUP160 gene, which encodes one protein component of the nuclear pore complex nucleoporin 160 kD, are implicated in steroid-resistant nephrotic syndrome, an international team reports March 25, 2019, in JASN. ...
Mar 26, 2019
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For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers ...
Mar 12, 2019
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New research indicates that colorectal cancer diagnosed at an early age has clinical and genetic features that are different from those seen in traditional colorectal cancer diagnosed later in life. Published early online ...
Mar 11, 2019
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A genetic discovery will make treatment for Crohn's disease and ulcerative colitis safer, by identifying patients who are at risk of potentially deadly drug side effects.
Feb 26, 2019
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Wilson disease (copper storage disease) is a rare genetic disorder in which one or more genetic mutations disrupt copper metabolism in the liver. At some point, the liver becomes incapable of eliminating copper with bile, ...
Feb 26, 2019
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