Scientists have pinpointed the mechanism behind hydrocephalus, an accumulation of cerebrospinal fluid around the brain, in an inherited developmental disorder called Noonan syndrome.
Mar 22, 2018
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A new paper in Genome Biology and Evolution finds that the link between paternal age and rare congenital disorders is more complex than scientists had previously thought.
Feb 27, 2024
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UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called ...
Feb 6, 2012
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Certain DNA mutations in bone cells that support blood development can drive leukemia formation in nearby blood stem cells, researchers from Winship Cancer Institute, Emory University and Children's Healthcare of Atlanta ...
Oct 26, 2016
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(Medical Xpress)—In a new paper, USC Dornsife molecular and computational biologists Norman Arnheim and Peter Calabrese and their team found that the longer a man waits to have children, the greater the chance of having ...
Jun 7, 2013
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Researchers at Children's Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous ...
Nov 20, 2020
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UCLA neuroscientists discovered that statins, a popular class of cholesterol drugs, reverse the learning deficits caused by a mutation linked to a common genetic cause of learning disabilities. Published in the Nov. 10 advance ...
Nov 10, 2014
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Bigger isn't always better, even when it comes to the body's most vital organs. An enlarged or thickened cardiac muscle can actually force the heart to work harder to pump blood throughout the body, weakening the organ until ...
Feb 3, 2015
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The protein Ras plays an important role in cellular growth control. Researchers have focused on the protein because mutations in its gene are found in more than 30 percent of all cancers, making it the most prevalent human ...
Nov 27, 2012
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A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the syndrome may be a cause of ...
Aug 18, 2021
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