Associated Papers
Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.
Lau DK et al.
Iscience, 2019
31731200 (PubMed )
Supplement: mmc2.xlsx › Sequencing.data
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST et al.
Jci Insight, 2018
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N et al.
Human Mutation, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
Vecchio-Pagán B et al.
Human Genome Variation, 2016
The silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunction.
Lazrak A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Intracellular cysteines of the cystic fibrosis transmembrane conductance regulator (CFTR) modulate channel gating.
Ketchum CJ et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2002
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.
Smit LS et al.
Human Molecular Genetics, 1995
Select a paper to view details