Associated Papers
Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.
Rafique H et al.
Journal of Computer-aided Molecular Design, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.
Cambraia A et al.
Disease Markers, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation.
Chen X et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.
Pankow S et al.
Science Signaling, 2019
Increased platelet activation occurs in cystic fibrosis patients and correlates to clinical status.
Lindberg U et al.
Thrombosis Research, 2018
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
Shukla P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Functional evaluation of bacteriophage T4 Rad50 signature motif residues.
Herdendorf TJ et al.
Biochemistry, 2011
The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.
Peleg L et al.
Journal of Medical Screening, 2011
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Green DM et al.
Respiratory Research, 2010
Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
Shukla P et al.
Human Genetics, 2009
The impact of cellular networks on disease comorbidity.
Park J et al.
Molecular Systems Biology, 2009
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
ERCP findings in idiopathic pancreatitis: patients who are cystic fibrosis gene positive and negative.
Alazmi WM et al.
Gastrointestinal Endoscopy, 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
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
Castellani C et al.
American Journal of Medical Genetics. Part A, 2005
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
Predictors of deterioration of lung function in cystic fibrosis.
Schaedel C et al.
Pediatric Pulmonology, 2002
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Complete screening of the CFTR gene in Argentine cystic fibrosis patients.
Visich A et al.
Clinical Genetics, 2002
Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens.
Josserand RN et al.
Human Reproduction (oxford, England), 2001
The S549R (T-->G) cystic fibrosis gene mutation.
Dawson KP et al.
Journal of Tropical Pediatrics, 2001
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.
McCallum T et al.
Human Reproduction (oxford, England), 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
[Characterization of 3 microsatellites of the cystic fibrosis gene in Argentine families].
Visich AA et al.
Medicina, 2001
Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.
Zebrak J et al.
Clinical Genetics, 2000
Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.
Schaedel C et al.
Clinical Genetics, 1999
Frequency of CFTR gene mutations in males participating in an ICSI programme.
Jakubiczka S et al.
Human Reproduction (oxford, England), 1999
Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.
Hodge SE et al.
American Journal of Medical Genetics, 1999
Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.
Schaedel C et al.
Clinical Genetics, 1998
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Onay T et al.
Human Genetics, 1998
Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
Messaoud T et al.
European Journal of Human Genetics : Ejhg, 1996
Genotypic analysis of respiratory mucous sulfation defects in cystic fibrosis.
Zhang Y et al.
The Journal of Clinical Investigation, 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
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.
Rave-Harel N et al.
American Journal of Human Genetics, 1995
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1994
Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction.
Fugger EF et al.
Human Reproduction (oxford, England), 1993
Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture.
Lemnaouar M et al.
European Journal of Clinical Investigation, 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