Do cell junction protein mutations cause an airway phenotype in mice or humans?

ABSTRACT: Cell junction proteins connect epithelial cells to each other and to the basement membrane. Genetic mutations of these proteins can cause alterations in some epithelia leading to varied phenotypes such as deafness, renal disease, skin disorders, and cancer. This review examines if genetic mutations in these proteins affect the function of lung airway epithelia. We review cell junction proteins with examples of disease mutation phenotypes in humans and in mouse knockout models. We also review which of these genes are expressed in airway epithelium by microarray expression profiling and immunocytochemistry. Last, we present a comprehensive literature review to find the lung phenotype when cell junction and adhesion genes are mutated or subject to targeted deletion. We found that in murine mo

SUBMITTER: Chang EH 

PROVIDER: S-EPMC3175552 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature