Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability.
Rossi A et al.
Phenomics (cham, Switzerland), 2022
Cystic Fibrosis in the African Diaspora.
Stewart C et al.
Annals of the American Thoracic Society, 2017
Mutation spectrum of Egyptian children with cystic fibrosis.
Shahin WA et al.
Springerplus, 2016
Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening.
Molinski SV et al.
Journal of Biomolecular Screening, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
Assessing the Disease-Liability of Mutations in CFTR.
Ferec C et al.
Cold Spring Harbor Perspectives in Medicine, 2012
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
Sheridan MB et al.
Journal of Medical Genetics, 2011
Evaluation of the disease liability of CFTR variants.
Sosnay PR et al.
Methods in Molecular Biology (clifton, N.j.), 2011
Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator.
Collawn JF et al.
Expert Review of Proteomics, 2010
Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.
Farra C et al.
Human Genetics, 2007
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
Pérez MM et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
ERCP findings in idiopathic pancreatitis: patients who are cystic fibrosis gene positive and negative.
Alazmi WM et al.
Gastrointestinal Endoscopy, 2006
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
Raskin S et al.
Genetic Testing, 2003
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
Wang Z et al.
Human Reproduction (oxford, England), 2002
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 2002
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M et al.
Human Genetics, 2001
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.
Kambouris M et al.
European Journal of Pediatrics, 2000
Molecular bases of low production rates of apolipoprotein B-100 and truncated apoB-82 in a mutant HepG2 cell line generated by targeted modification of the apolipoprotein B gene.
Srivastava RA et al.
Journal of Lipid Research, 1999
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
Gardella R et al.
Human Mutation, 1999
Molecular basis of cystic fibrosis in the Republic of Macedonia.
Petreska L et al.
Clinical Genetics, 1998
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.
Mickle JE et al.
Human Molecular Genetics, 1998
Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).
Bianchet MA et al.
Journal of Bioenergetics and Biomembranes, 1997
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
Macek M et al.
American Journal of Human Genetics, 1997
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes.
Shuber AP et al.
Human Molecular Genetics, 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
Two novel frameshift deletions (1924del7, 2055del9-->A) in the CFTR gene in Mexican cystic fibrosis patients.
Orozco L et al.
Human Mutation, 1997
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
Christiano AM et al.
American Journal of Human Genetics, 1996
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
Serova O et al.
American Journal of Human Genetics, 1996
[Aerosol administration of a replication defective recombinant adenovirus expressing normal human cDNA-CFTR in the respiratory tractus in patients with cystic fibrosis].
Bellon G et al.
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales, 1996
Spectrum of small mutations in the dystrophin coding region.
Prior TW et al.
American Journal of Human Genetics, 1995
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
Heim RA et al.
Human Molecular Genetics, 1995
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.
Yoshida K et al.
Nature Genetics, 1995
The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
Boles DJ et al.
American Journal of Human Genetics, 1995
Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1.
Henske EP et al.
Annals of Human Genetics, 1995
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.
Dietz HC et al.
Nature 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
Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.
Shoshani T et al.
The Journal of Clinical Investigation, 1994
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.
Dean M et al.
Human Genetics, 1994
The amino-terminal portion of CFTR forms a regulated Cl- channel.
Sheppard DN et al.
Cell, 1994
Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.
Veeze HJ et al.
The Journal of Clinical Investigation, 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
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Dörk T et al.
Human Mutation, 1994
Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.
Upadhyaya M et al.
Human Mutation, 1994
Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.
Rolfini R et al.
The Journal of Clinical Investigation, 1993
A mutation in CFTR produces different phenotypes depending on chromosomal background.
Kiesewetter S et al.
Nature Genetics, 1993