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Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing efficiency of exon 9 can affect the phenotype produced by a mutation. A missense mutation, R117H, which has been observed in three phenotypes, was found to occur on two chromosome backgrounds with intron 8 variants that have profoundly different effects upon splicing efficiency. A close association is shown between chromosome background of the R117H mutation and phenotype. These findings demonstrate that the genetic context in which a mutation occurs can play a significant role in determining the type of illness produced.

A domain in the low-density lipoprotein receptor contains three cysteine-rich 'growth factor' repeats like those that occur in many proteins. When this domain is deleted, the receptor no longer releases its ligand at acid pH, it is no longer recycled efficiently and it is rapidly degraded after ligand binding.

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The introduction of a new information technology (IT) into a workplace often engenders a wide range of responses among users. These responses encompass a variety of emotions, such as excitement, indifference, skepticism, and fear, and behaviors, such as user engagement, avoidance, and workarounds, that are often manifested concurrently in the same work environment. We present a taxonomy of these responses in the context of mandated IT use by classifying user responses as engaged, compliant, reluctant, or deviant. Using a coping theoretic lens, we offer seven propositions to describe the causal factors and processes that drive specific IT user responses and how such responses might change over time. A qualitative analysis of 47 interviews of 42 physicians at a large community hospital over an 8-year period provides support for our taxonomy and propositions. The study's key contributions are that it conceptualizes different types of user responses that may emerge in mandatory IT use settings, elaborates the key drivers of and processes underlying these diverse responses, and suggests how those behaviors may change over time with changes in the coping process.