Modeling the cell biology of monogenetic intestinal epithelial disorders
Izumi Kaji,
Jay R. Thiagarajah,
James R. Goldenring
Abstract:Monogenetic variants are responsible for a range of congenital human diseases. Variants in genes that are important for intestinal epithelial function cause a group of disorders characterized by severe diarrhea and loss of nutrient absorption called congenital diarrheas and enteropathies (CODEs). CODE-causing genes include nutrient transporters, enzymes, structural proteins, and vesicular trafficking proteins in intestinal epithelial cells. Several severe CODE disorders result from the loss-of-function in key … Show more
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