Most cases of hereditary xerocytosis are associated with gain-of-function mutations in PIEZO1, a mechanically activated ion channel.
Most published studies on Drosophila Asx were performed with gain-of-function or hypomorph alleles, complicating the interpretation of data.
Hence, misexpression of p21CIP/WAF or mstn in the embryos with gain-of-Wnt/β-catenin function restores the integrity as well as morphology of the fast muscle fibers.
Human LQT3 syndrome is associated with gain-of-function alterations in the cardiac Na+ channel.
One way to suppress null or loss-of-function alleles is with gain-of-function alleles in other genes.
This enforced regularity is strongly indicative of an applied evolutionary force, and tends to be associated with gain-of-function.
Subjects with gain-of-function LRP5 mutations and high bone mass had enhanced lower-body fat accumulation.
The Crouzon syndrome, associated with gain-of-function mutations in fibroblast growth factor receptor 2 (featuresfeatures craniosynostosis.
In mastocytosis, the majority of cases are associated with gain-of-function point mutations of KIT, a tyrosine kinase receptor located on mast cells.
Researchers associated qualitative research with gaining the views of patients.
