Works by Cuppens, Harry
Results: 29
The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI.
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- Angewandte Chemie, 2020, v. 132, n. 26, p. 10636, doi. 10.1002/ange.201915407
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- Article
A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na<sup>+</sup> self inhibition.
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- Journal of Physiology, 2010, v. 588, n. 8, p. 1211, doi. 10.1113/jphysiol.2009.180224
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- Article
Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel
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- FEBS Letters, 2005, v. 579, n. 16, p. 3392, doi. 10.1016/j.febslet.2005.04.079
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- Article
Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, ΔF508 and knock-out CFTR mice during postnatal life.
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- Molecular Reproduction & Development, 2000, v. 55, n. 2, p. 125, doi. 10.1002/(SICI)1098-2795(200002)55:2<125::AID-MRD1>3.0.CO;2-Q
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- Article
The C-terminal part of the R-domain, but not the PDZ binding motif, of CFTR is involved in interaction with Ca<sup>2+</sup>-activated Cl<sup>–</sup> channels.
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- Pflügers Archiv: European Journal of Physiology, 2001, v. 442, n. 2, p. 280, doi. 10.1007/s004240100531
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- Article
The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
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- Human Genetics, 2006, v. 119, n. 3, p. 331, doi. 10.1007/s00439-006-0140-2
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- Article
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
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- Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196
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- Article
Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
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- Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU21>3.0.CO;2-9
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- Article
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence.
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- Human Mutation, 1999, v. 13, n. 3, p. 197, doi. 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D
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- Article
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).
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- Human Mutation, 1998, v. 11, n. 2, p. 152, doi. 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L
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- Article
Functional Characterization of a Partial Loss-of-Function Mutation of the Epithelial Sodium Channel (ENaC) Associated with Atypical Cystic Fibrosis.
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- Cellular Physiology & Biochemistry (Karger AG), 2010, v. 25, n. 1, p. 145, doi. 10.1159/000272059
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- Article
Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator.
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- Journal of Physiology, 1999, v. 515, n. 1, p. 75, doi. 10.1111/j.1469-7793.1999.075ad.x
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- Publication type:
- Article
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136
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- Article
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590
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- Publication type:
- Article
The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI.
- Published in:
- Angewandte Chemie International Edition, 2020, v. 59, n. 26, p. 10549, doi. 10.1002/anie.201915407
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- Publication type:
- Article
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1761, doi. 10.1093/hmg/7.11.1761
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- Article
Increased Proportion of Exon 9 Alternatively Spliced CFTR Transcripts in vas Deferens Compared with Nasal Epithelial Cells.
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- Human Molecular Genetics, 1997, v. 6, n. 1, p. 85, doi. 10.1093/hmg/6.1.85
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- Article
Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.
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- Human Molecular Genetics, 1994, v. 3, n. 12, p. 2249
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- Article
CFTR haplotype backgrounds on normal and mutant CFTR genes.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 607
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- Article
Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.
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- Human Molecular Genetics, 1992, v. 1, n. 4, p. 283
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- Article
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.
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- Nucleic Acids Research, 2007, v. 35, p. d690, doi. 10.1093/nar/gkl934
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- Article
Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.
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- Clinical Genetics, 1994, v. 46, n. 3, p. 257, doi. 10.1111/j.1399-0004.1994.tb04237.x
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- Article
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-11
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- Article
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.
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- 2014
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- Publication type:
- journal article
Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells.
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- BMC Physiology, 2001, v. 1, p. 3, doi. 10.1186/1472-6793-1-3
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- Article
Rapid Detection of Hypervariable Regions by the Polymerase Chain Reaction Technique.
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- DNA & Cell Biology, 1990, v. 9, n. 6, p. 461, doi. 10.1089/dna.1990.9.461
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- Article
The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.
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- Life (2075-1729), 2021, v. 11, n. 1, p. 14, doi. 10.3390/life11010014
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- Article
High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038463
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- Article
Differential Induction of Human Beta-Defensin Expression by Periodontal Commensals and Pathogens in Periodontal Pocket Epithelial Cells.
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- Journal of Periodontology, 2005, v. 76, n. 8, p. 1293, doi. 10.1902/jop.2005.76.8.1293
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- Publication type:
- Article