Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause congenital bilateral absence of the vas deferens (CBAVD) in approximately 1% of the infertile males.
However, more extensive studies of CFTR mutations in larger and more diverse populations have shown that mutations in additional genes could perhaps modulate the severity and type of disease ...
Wild-type, stabilized and CF-causing CFTR variants are available ... “The allosteric effects of the F508del mutation in human CFTR elucidated by cryo-EM enabled by protein engineering,” presented by ...
in addition to maintenance of wild-type Sprague Dawley strain for additional use Generation and procurement of novel relevant CF animal models to understand newly developed CFTR modulators, and to ...
Follow-up tests include measuring the amount of salt in sweat and checking for mutations in the CFTR gene (the most expensive diagnostic). Currently about half a dozen states mandate CF screening ...
The development of other types of antibiotics during ... More than 2,500 CF-causing mutations have been discovered since then ...
The studies evaluated the “vanza triple” therapy in CF patients with at least one F508del mutation or mutation responsive to triple combination CFTR modulators versus Trikafta, which consists ...