Standards and Guidelines for
CFTR Mutation Testing.
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian
CFTR mutations.
Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del
CFTR by pulmonary function subgroup: A pooled analysis.
If the IRT measurement is above this cutoff, an additional DNA screening test is used to identify specific
CFTR gene mutations.
CFTR-dependent chloride secretion was calculated as the difference in the rate of change of forskolin-plus 3-isobutyl-1-methylxanthine- (IBMX-) stimulated fluorescence in the absence or presence of apical treatment with the specific
CFTR inhibitor, CFTRinh-172 [20].
This study is the first to report the prevalence of
CFTR mutations in CF patients from west part of Iran with Kurdish ethnic background.
Leysen et al., "Characterization and small-molecule stabilization of the multisite tandem binding between 14-3-3 and the R domain of
CFTR," Proceedings of the National Academy of Sciences of the United States of America, vol.
Amos et al., "Standards and guidelines for
CFTR mutation testing," Genetics in Medicine, vol.
CHEN ET AL/NATURE BIOTECHNOLOGY 2010 Number of Mutated resistant Disease gene people Cystic fibrosis
CFTR 3 (lung disease) Smith-Lemli-Opitz DHCR7 2 syndrome (developmental disorder) Familial IKBKAP 1 dysautonomia (neurological disease) Epidermolysis KRT14 1 bullosa simplex (skin condition) Pfeiffer syndrome FGFR1 1 (bone disorder) APECED AIRE 1 (autoimmune disease) Acampomelic SOX9 1 campomelic dysplasia (bone disorder) Atelosteogenesis SLC26A2 3 (bone disorder)
CFTR dysfunction in the lungs results in thick pulmonary secretions as the aqueous surface layer (ASL) lining the alveolar epithelium becomes dehydrated and creates a prime environment for the development of chronic infection.
Egozcue et al., "Heterogeneity for mutations in the
CFTR gene and clinical correlations in patients with congenital absence of the vas deferens," Human Reproduction, vol.