Works matching AU Cuppens, Harry

Results: 29

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.

Published in:

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

By:

Reynaert, Ingrid;
Van Der Schueren, Bernadette;
Degeest, Gisèle;
Manin, Michèle;
Cuppens, Harry;
Scholte, Bob;
Cassiman, Jean-Jacques

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, 2020, v. 132, n. 26, p. 10636, doi. 10.1002/ange.201915407

By:

Fage, Christopher D.;
Lathouwers, Thomas;
Vanmeert, Michiel;
Gao, Ling‐Jie;
Vrancken, Kristof;
Lammens, Eveline‐Marie;
Weir, Angus N. M.;
Degroote, Ruben;
Cuppens, Harry;
Kosol, Simone;
Simpson, Thomas J.;
Crump, Matthew P.;
Willis, Christine L.;
Herdewijn, Piet;
Lescrinier, Eveline;
Lavigne, Rob;
Anné, Jozef;
Masschelein, Joleen

Publication type:

Article

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

Published in:

Nucleic Acids Research, 2007, v. 35, p. d690, doi. 10.1093/nar/gkl934

By:

van Baal, Sjozef;
Kaimakis, Polynikis;
Phommarinh, Manyphong;
Koumbi, Daphne;
Cuppens, Harry;
Riccardino, Francesca;
Macek, Milan;
Scriver, Charles R.;
Patrinos, George P.

Publication type:

Article

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136

By:

Dequeker, Els;
Stuhrmann, Manfred;
Morris, Michael A.;
Casals, Teresa;
Castellani, Carlo;
Claustres, Mireille;
Cuppens, Harry;
des Georges, Marie;
Ferec, Claude;
Macek, Milan;
Pignatti, Pier-Franco;
Scheffer, Hans;
Schwartz, Marianne;
Witt, Michal;
Schwarz, Martin;
Girodon, Emmanuelle

Publication type:

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.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590

By:

Férec, Claude;
Casals, Teresa;
Chuzhanova, Nadia;
Macek Jr., Milan;
Bienvenu, Thierry;
Holubova, Andrea;
King, Caitriona;
McDevitt, Trudi;
Castellani, Carlo;
Farrell, Philip M;
Sheridan, Molly;
Pantaleo, Sarah-Jane;
Loumi, Ourida;
Messaoud, Taieb;
Cuppens, Harry;
Torricelli, Francesca;
Cutting, Garry R;
Williamson, Robert;
Ramos, Maria Jesus Alonso;
Pignatti, Pier Franco

Publication type:

Article

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.

Published in:

Life (2075-1729), 2021, v. 11, n. 1, p. 14, doi. 10.3390/life11010014

By:

Bampi, Giovana B.;
Ramalho, Anabela S.;
Santos, Leonardo A.;
Wagner, Johannes;
Dupont, Lieven;
Cuppens, Harry;
De Boeck, Kris;
Ignatova, Zoya

Publication type:

Article

Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator.

Published in:

Journal of Physiology, 1999, v. 515, n. 1, p. 75, doi. 10.1111/j.1469-7793.1999.075ad.x

By:

Vennekens, Rudi;
Trouet, Dominique;
Vankeerberghen, Anne;
Voets, Thomas;
Cuppens, Harry;
Eggermont, Jan;
Cassiman, Jean-Jacques;
Droogmans, Guy;
Nilius, Bernd

Publication type:

Article

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1761, doi. 10.1093/hmg/7.11.1761

By:

Vankeerberghen, Anne;
Wei, Lin;
Jaspers, Martine;
Cassiman, Jean‐Jacques;
Nilius, Bernd;
Cuppens, Harry

Publication type:

Article

Increased Proportion of Exon 9 Alternatively Spliced CFTR Transcripts in vas Deferens Compared with Nasal Epithelial Cells.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 85, doi. 10.1093/hmg/6.1.85

By:

Teng, Hui;
Jorissen, Mark;
Van Poppe, Hein;
Legius, Eric;
Cassiman, Jean-Jacques;
Cuppens, Harry

Publication type:

Article

Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2249

By:

Teng, Hul;
Cuppens, Harry;
De Boeck, Christine;
Cassiman, Jean-Jacques

Publication type:

Article

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

Published in:

Clinical Genetics, 1994, v. 46, n. 3, p. 257, doi. 10.1111/j.1399-0004.1994.tb04237.x

By:

Ruiz, Juan Carlos;
Legius, Eric;
Cuppens, Harry;
Moens, Pierre;
Marynen, Peter;
Cassiman, Jean-Jacques

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

By:

Fage, Christopher D.;
Lathouwers, Thomas;
Vanmeert, Michiel;
Gao, Ling‐Jie;
Vrancken, Kristof;
Lammens, Eveline‐Marie;
Weir, Angus N. M.;
Degroote, Ruben;
Cuppens, Harry;
Kosol, Simone;
Simpson, Thomas J.;
Crump, Matthew P.;
Willis, Christine L.;
Herdewijn, Piet;
Lescrinier, Eveline;
Lavigne, Rob;
Anné, Jozef;
Masschelein, Joleen

Publication type:

Article

Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells.

Published in:

BMC Physiology, 2001, v. 1, p. 3, doi. 10.1186/1472-6793-1-3

By:

Lin Wei;
Freichel, Marc;
Jaspers, Martine;
Cuppens, Harry;
Cassiman, Jean-Jacques;
Droogmans, Guy;
Flockerzi, Veit;
Nilius, Bernd

Publication type:

Article

CFTR haplotype backgrounds on normal and mutant CFTR genes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 607

By:

Cuppens, Harry;
Teng, Hui;
Raeymaekers, Peter;
De Boeck, Christine;
Casslman, Jean-Jacques

Publication type:

Article

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 4, p. 283

By:

Cuppens, Harry;
Loumi, Ourida;
Marynen, Peter;
Cassiman, Jean-Jacques

Publication type:

Article

Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel

Published in:

FEBS Letters, 2005, v. 579, n. 16, p. 3392, doi. 10.1016/j.febslet.2005.04.079

By:

Vastiau, Annick;
Cao, Lishuang;
Jaspers, Martine;
Owsianik, Grzegorz;
Janssens, Veerle;
Cuppens, Harry;
Goris, Jozef;
Nilius, Bernd;
Cassiman, Jean-Jacques

Publication type:

Article

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-11

By:

Boon, Mieke;
Smits, Anne;
Cuppens, Harry;
Jaspers, Martine;
Proesmans, Marijke;
Dupont, Lieven J.;
Vermeulen, Francois L.;
Van Daele, Sabine;
Malfroot, Anne;
Godding, Veronique;
Jorissen, Mark;
De Boeck, Kris

Publication type:

Article

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Published in:

2014

By:

Boon, Mieke;
Smits, Anne;
Cuppens, Harry;
Jaspers, Martine;
Proesmans, Marijke;
Dupont, Lieven J;
Vermeulen, Francois L;
Van Daele, Sabine;
Malfroot, Anne;
Godding, Veronique;
Jorissen, Mark;
De Boeck, Kris

Publication type:

journal article

Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.

Published in:

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

By:

Kušic, Jelena;
Radojkovic, Dragica;
Cuppens, Harry;
Jaspers, Martine;
Tomic, Jelena;
Savic, Ana

Publication type:

Article

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence.

Published in:

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

By:

Marie, Sandrine;
Cuppens, Harry;
Heuterspreute, Michel;
Jaspers, Martine;
Tola, Eduardo Zambrano;
Gu, Xiao Xiao;
Legius, Eric;
Vincent, M.-Françoise;
Jaeken, Jaak;
Cassiman, Jean-Jacques;
Van den Berghe, Georges

Publication type:

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).

Published in:

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

By:

Malone, Geraldine;
Haworth, Andrea;
Schwarz, Martin J.;
Cuppens, Harry;
Super, Maurice

Publication type:

Article

The C-terminal part of the R-domain, but not the PDZ binding motif, of CFTR is involved in interaction with Ca2+-activated Cl– channels.

Published in:

Pflügers Archiv: European Journal of Physiology, 2001, v. 442, n. 2, p. 280, doi. 10.1007/s004240100531

By:

Lin Wei;
Vankeerberghen, Anne;
Cuppens, Harry;
Cassiman, Jean-Jacques;
Droogmans, Guy;
Nilius, Bernd

Publication type:

Article

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

Published in:

Journal of Physiology, 2010, v. 588, n. 8, p. 1211, doi. 10.1113/jphysiol.2009.180224

By:

Rauh, Robert;
Diakov, Alexei;
Tzschoppe, Anja;
Korbmacher, Judit;
Azad, Abul Kalam;
Cuppens, Harry;
Cassiman, Jean-Jaques;
Dötsch, Jörg;
Sticht, Heinrich;
Korbmacher, Christoph

Publication type:

Article

The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.

Published in:

Human Genetics, 2006, v. 119, n. 3, p. 331, doi. 10.1007/s00439-006-0140-2

By:

Stanke, Frauke;
Becker, Tim;
Cuppens, Harry;
Kumar, Vinod;
Cassiman, Jean-Jacques;
Jansen, Silke;
Radojkovic, Dragica;
Siebert, Benny;
Yarden, Jennifer;
Ussery, David W.;
Wienker, Thomas F.;
Tümmler, Burkhard

Publication type:

Article

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes.

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038463

By:

Atak, Zeynep Kalender;
Keersmaecker, Kim De;
Gianfelici, Valentina;
Geerdens, Ellen;
Vandepoel, Roel;
Pauwels, Daphnie;
Porcu, Michaël;
Lahortiga, Idoya;
Brys, Vanessa;
Dirks, Willy G.;
Quentmeier, Hilmar;
Cloos, Jacqueline;
Cuppens, Harry;
Uyttebroeck, Anne;
Vandenberghe, Peter;
Cools, Jan;
Aerts, Stein

Publication type:

Article

Differential Induction of Human Beta-Defensin Expression by Periodontal Commensals and Pathogens in Periodontal Pocket Epithelial Cells.

Published in:

Journal of Periodontology, 2005, v. 76, n. 8, p. 1293, doi. 10.1902/jop.2005.76.8.1293

By:

Vankeerberghen, Anne;
Nuytten, Hilde;
Dierickx, Kurt;
Quirynen, Marc;
Cassiman, Jean-Jacques;
Cuppens, Harry

Publication type:

Article

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196

By:

Quemener, Sylvia;
Chen, Jian-Min;
Chuzhanova, Nadia;
Bénech, Caroline;
Casals, Teresa;
Macek, Milan;
Bienvenu, Thierry;
McDevitt, Trudi;
Farrell, Philip M.;
Loumi, Ourida;
Messaoud, Taieb;
Cuppens, Harry;
Cutting, Garry R.;
Stenson, Peter D.;
Giteau, Karine;
Audrézet, Marie-Pierre;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Functional Characterization of a Partial Loss-of-Function Mutation of the Epithelial Sodium Channel (ENaC) Associated with Atypical Cystic Fibrosis.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2010, v. 25, n. 1, p. 145, doi. 10.1159/000272059

By:

Huber, Regina;
Krueger, Bettina;
Diakov, Alexei;
Korbmacher, Judit;
Haerteis, Silke;
Einsiedel, Jürgen;
Gmeiner, Peter;
Azad, Abul Kalam;
Cuppens, Harry;
Cassiman, Jean-Jaques;
Korbmacher, Christoph;
Rauh, Robert

Publication type:

Article

Rapid Detection of Hypervariable Regions by the Polymerase Chain Reaction Technique.

Published in:

DNA & Cell Biology, 1990, v. 9, n. 6, p. 461, doi. 10.1089/dna.1990.9.461

By:

DECORTE, RONNY;
CUPPENS, HARRY;
MARYNEN, PETER;
CASSIMAN, JEAN-JACQUES

Publication type:

Article

Works matching AU Cuppens, Harry

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.

The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI.

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.

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.

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.

Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator.

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

Increased Proportion of Exon 9 Alternatively Spliced CFTR Transcripts in vas Deferens Compared with Nasal Epithelial Cells.

Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI.

Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells.

CFTR haplotype backgrounds on normal and mutant CFTR genes.

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.

Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence.

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).

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.

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na<sup>+</sup> self inhibition.

The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes.

Differential Induction of Human Beta-Defensin Expression by Periodontal Commensals and Pathogens in Periodontal Pocket Epithelial Cells.

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Functional Characterization of a Partial Loss-of-Function Mutation of the Epithelial Sodium Channel (ENaC) Associated with Atypical Cystic Fibrosis.

Rapid Detection of Hypervariable Regions by the Polymerase Chain Reaction Technique.