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A new study reports that two common loss-of-function mutations in the gene encoding filaggrin are important risk factors for atopic dermatitis, and interestingly, for asthma in association with atopic dermatitis, but not asthma in the absence of atopic dermatitis. These findings suggest the importance of the epidermal barrier in preventing sensitization to allergens.
Mutations in SCL2A10, encoding a glucose transporter, result in arterial tortuosity syndrome, indicating a link between glucose metabolism and angiopathic changes. Intriguingly, some of the phenotypic effects of SCL2A10 ablation may be mediated by upregulation of TGFβ signaling, suggesting new approaches for therapy of aortic aneurysm.
A new study uses an evolutionary approach to characterize the diversity within populations of cells in Barrett's esophagus lesions. Greater genetic clonal diversity is found to be associated with higher risks for transformation.
A new study shows that Slc26a6-null mice manifest calcium-oxalate nephrolithiasis accompanied by enhanced net intestinal oxalate absorption. These findings point to a critical role for Slc26a6 in gastrointestinal oxalate secretion and suggest a genetic explanation for a common form of renal stone disease in humans.
A new study elucidates a drug interaction network using a simple combination of theory and experiments, testing drug combinations on Escherichia coli. The results are elegant, uncovering drug interactions shared within drug classes and providing useful tools for functional classifications of drugs.