Indeed, the extrapolation of functionality from in vitro functional genetic tests after lipopolysaccharide stimulation may be of questionable value.
This clinical presentation is distinct from the phenotype associated with loss-of-function variants, supporting the value of in vitro functional screening.
Loss of DAT function was detected in most missense variants through in vitro functional studies11.
In vitro functional analysis suggested that L10F might be a loss-of-function mutation and K132R is a gain-of-function mutation.
This book provides coverage, methodology, and laboratory protocols on the more essential aspects of protein tyrosine phosphatase (PTP) function and regulation, including the use of standardized in vitro functional assays, suitable cell systems, and animal and microorganism models.
In vitro functional studies provide complementary information.
Cao, S., Cui, J., Matsubara, J. & Forooghian, F. Long-term in vitro functional stability of compounded ranibizumab and aflibercept.
Usoskin, D. et al. En masse in vitro functional profiling of the axonal mechanosensitivity of sensory neurons.
Her main focus was defining the functional and clinical relevance of variants in HNF1A by in vitro functional studies.
Olds LC, Sibley E: Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.
Here, we developed and utilized next-generation sequencing, high-throughput proteomics, and in vitro functional assays to investigate the plasmablast and autoantibody responses in patients with IgG4-RD.
