Browse Items (6 total)

This manuscript reviews the frequencies, symptoms, testing, and reporting of genotypes with the 5T poly-thymidine tract which reduces splicing efficiency in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene in congenital bilateral…

Pili torti is a hair shaft disorder characterized by hair that does not grow long and is easily broken; the hair often has a coarse or spangled appearance. A diagnosis is made by light microscopy of flattened hair twisted 180 degrees along its axis.…

The gene encoding cholesterol 7 alpha-hydroxylase (CYP7A), the rate-limiting enzyme in bile acid synthesis, is transcriptionally regulated by bile acids and hormones. Previously, we have identified two bile acid response elements (BARE) in the…

The pathogenesis of Crohn's disease (CD), an idiopathic inflammatory bowel disease, is attributed, in part, to intestinal bacteria that may initiate and perpetuate mucosal inflammation in genetically susceptible individuals. Paneth cells (PC) are the…

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