Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Folding-function relationship of the most common cystic fibrosis-causing CFTR conductance mutants.
van Willigen M et al.
Life Science Alliance, 2019
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A et al.
European Journal of Human Genetics : Ejhg, 2013
Atrophic-appearing pancreas on magnetic resonance cholangiopancreatography as initial presentation of cystic fibrosis.
Stratton A et al.
Hawai'i Journal of Medicine & Public Health : a Journal of Asia Pacific Medicine & Public Health, 2012
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
Enquist K et al.
Journal of Molecular Biology, 2009
The impact of cellular networks on disease comorbidity.
Park J et al.
Molecular Systems Biology, 2009
Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France).
Scotet V et al.
Prenatal Diagnosis, 2008
CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study.
Munthe-Kaas MC et al.
Respiratory Medicine, 2006
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
[Neonatal screening of cystic fibrosis: diagnostic and ethical problems with mild mutations].
Roussey M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V et al.
Human Mutation, 2003
Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Salvatore F et al.
American Journal of Medical Genetics, 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
Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.
Clain J et al.
The Journal of Biological Chemistry, 2001
European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.
Koch C et al.
Pediatric Pulmonology, 2001
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
Scotet V et al.
Lancet (london, England), 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Cystic fibrosis-associated mutations at arginine 347 alter the pore architecture of CFTR. Evidence for disruption of a salt bridge.
Cotten JF et al.
The Journal of Biological Chemistry, 1999
Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.
Hojo S et al.
Clinical Genetics, 1998
Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?
Kosztolányi G et al.
Clinical Genetics, 1996
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.
Férec C et al.
Human Genetics, 1995
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene.
Mickle J et al.
Human Reproduction (oxford, England), 1995
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N et al.
American Journal of Human Genetics, 1994
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1994
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
Bienvenu T et al.
Human Molecular Genetics, 1994
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
Ravnik-Glavac M et al.
Human Mutation, 1994
The mitotic feedback control gene MAD2 encodes the alpha-subunit of a prenyltransferase.
Li R et al.
Nature, 1993
Identification of 12 novel mutations in the CFTR gene.
Audrézet MP et al.
Human Molecular Genetics, 1993
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
Gasparini P et al.
Human Mutation, 1993
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure.
Huleyuk N et al.
Tsitologiia I Genetika, 0