Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; growth failure; neurological, ...
Apr 10, 2024
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Timing is everything when it comes to the development of the vertebrate face. In a new study published in PLoS Genetics, USC Stem Cell researcher Lindsey Barske from the laboratory of Gage Crump and her colleagues identify ...
Apr 22, 2016
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(Medical Xpress)—The adaptive advantage of the visual perception of transparency is obvious: the urgent need to find water. Thus, human vision is able to perceive two layers at the same retinal location—a transparent ...
Our bones are smart. Bones know that by adolescence it's time to stop growing longer and stronger, and from that point on bones keep their shape by healing injuries.
Nov 24, 2014
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Shakespeare may have characterised Richard III as a hunchback, but now everyone can explore the true shape of one of history's most famous spinal columns.
May 29, 2014
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(Medical Xpress)—Prenatal exposure to alcohol severely disrupts major features of brain development that potentially lead to increased anxiety and poor motor function, conditions typical in humans with Fetal Alcohol Spectrum ...
Nov 28, 2013
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Cornell bioengineers and physicians have created an artificial ear – using 3-D printing and injectable molds – that looks and acts like a natural ear, giving new hope to thousands of children born with a congenital deformity ...
Feb 20, 2013
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Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that ...
Aug 12, 2012
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A team of scientists from the University of Missouri created a genetically modified mouse that mimics key features of Charcot-Marie-Tooth disease, an inherited neuromuscular disease affecting approximately 150,000 people ...
Apr 17, 2012
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(Medical Xpress) -- The Human Genetics team at The University of Queensland Diamantina Institute have successfully used a new gene-mapping approach for patients affected by severe skeletal abnormalities.
May 4, 2011
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