ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. The study, which was carried out by a team of researchers from institutions around the world, including Baylor ...
Mar 14, 2017
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The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin. Bilirubin is a yellow substance generated in large quantities when the body recycles red blood cells. It is ...
Jan 9, 2012
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People at high risk of cancer of the bowel and womb due to a genetic condition will receive a more accurate diagnosis as a result of a new model developed by a team of international scientists.
Dec 24, 2013
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A discovery by scientists at the Salk Institute for Biological Studies might explain why some premature infants fail to respond to existing treatments for a deadly respiratory distress syndrome (RDS) and offers clues for ...
Oct 18, 2011
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Researchers at UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) have grown "mini eyes," which make it possible to study and better understand the development of blindness in a rare genetic disease called Usher ...
Nov 18, 2022
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A promising study out today in the prestigious Journal of Neuroscience showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating ...
Oct 3, 2012
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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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In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Sep 6, 2011
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A new study among more than 1000 colorectal cancer patients at Dana-Farber Cancer Institute has revealed that a surprising number of patients, about 10% in total, show mutations in genes thought to increase the susceptibility ...
Jan 30, 2017
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Researchers at the University of Tokyo's School of Medicine have shown for the first time that caffeine intake can significantly increase the eye's ability to produce tears, a finding that could improve treatment of dry eye ...
Apr 17, 2012
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