Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST et al.
Genes, 2021
Structural mechanisms of CFTR function and dysfunction.
Hwang TC et al.
The Journal of General Physiology, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2016
Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.
Lee S et al.
Molecular and Cellular Biology, 2014
[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].
Peskov SA et al.
Meditsina Truda I Promyshlennaia Ekologiia, 2013
Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.
Handschick M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
Kilinç MO et al.
American Journal of Medical Genetics, 2002
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
Gaia E et al.
Digestive Diseases and Sciences, 2002
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
Channel-lining residues in the M3 membrane-spanning segment of the cystic fibrosis transmembrane conductance regulator.
Akabas MH
Biochemistry, 1998
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
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
Estivill X et al.
Human Mutation, 1997