Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.
Yeh JT et al.
The Journal of Physiology, 2020
Enhancing the Potency of F508del Correction: A Multi-Layer Combinational Approach to Drug Discovery for Cystic Fibrosis.
Kirby EF et al.
Journal of Pharmacology & Clinical Toxicology, 2013
Crucial role for phylogenetically conserved cytoplasmic loop 3 in ABCC4 protein expression.
Cheepala SB et al.
The Journal of Biological Chemistry, 2013
Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.
Wang G et al.
The Journal of Biological Chemistry, 2012
Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.
El Hiani Y et al.
Biochemistry, 2012
Pharmacological therapy for cystic fibrosis: from bench to bedside.
Becq F et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2011
New horizons in the treatment of cystic fibrosis.
Cuthbert AW
British Journal of Pharmacology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The impact of cellular networks on disease comorbidity.
Park J et al.
Molecular Systems Biology, 2009
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi JY et al.
Nature, 2001
Cystic fibrosis transmembrane conductance regulator has an altered structure when its maturation is inhibited.
Chen EY et al.
Biochemistry, 2000
Conformation, independent of charge, in the R domain affects cystic fibrosis transmembrane conductance regulator channel openings.
Xie J et al.
Biophysical Journal, 2000
Two novel mutations in a cystic fibrosis patient of Chinese origin.
Wagner JA et al.
Human Genetics, 1999
Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.
Seibert FS et al.
Biochemistry, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity.
Seibert FS et al.
The Journal of Biological Chemistry, 1996
Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ghanem N et al.
Genomics, 1994
Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
Loo TW et al.
Molecular Pharmaceutics, 0
CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.
Ghouchanatigh MD et al.
Asian Journal of Andrology, 0