Harry Cuppens

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children
    Patrick Lebecque
    Department of Pediatrics, Center for Human Genetics, Gasthuisberg, Belgium
    Am J Respir Crit Care Med 165:757-61. 2002
  2. ncbi Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells
    L Wei
    Department of Physiology, Campus Gasthuisberg, KU Leuven, Leuven, Belgium
    BMC Physiol 1:3. 2001
  3. ncbi Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    H Cuppens
    Center for Human Genetics, KULeuven, B 3000 Leuven, Belgium
    J Clin Invest 101:487-96. 1998
  4. ncbi CFTR mutations and polymorphisms in male infertility
    Harry Cuppens
    Department for Human Genetics, KULeuven, Herestraat 49, O and N6, 3000 Leuven, Belgium
    Int J Androl 27:251-6. 2004
  5. ncbi Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease
    Wim Janssens
    Department of Human Genetics, Katholieke Universiteit Leuven, Gasthuisberg O and N1 602, Herestraat 49, B 3000, Leuven, Belgium
    Am J Respir Crit Care Med 182:163-9. 2010
  6. ncbi Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel
    Annick Vastiau
    Department of Human Genetics, Division of Human Mutations and Polymorphisms, KULeuven, Herestraat 49, Postbus 602, 3000 Leuven, Belgium
    FEBS Lett 579:3392-6. 2005
  7. ncbi Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis
    Liesbet Henckaerts
    Department of Gastroenterology, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    J Hepatol 50:150-7. 2009
  8. ncbi Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression
    Lishuang Cao
    Laboratory of Physiology, Catholic University of Leuven, Campus Gasthuisberg, Herestraat 49, B 3000, Leuven, Belgium
    Biochem Biophys Res Commun 304:248-52. 2003
  9. ncbi Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells
    Anne Vankeerberghen
    Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
    J Periodontol 76:1293-303. 2005
  10. ncbi Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations
    Els Dequeker
    Center for Human Genetics, Campus Gasthuisberg, KULeuven, Belgium
    Eur J Hum Genet 17:51-65. 2009

Collaborators

Detail Information

Publications17

  1. ncbi Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children
    Patrick Lebecque
    Department of Pediatrics, Center for Human Genetics, Gasthuisberg, Belgium
    Am J Respir Crit Care Med 165:757-61. 2002
    ..4 mM, p < 0.05). The nasal potential difference was abnormal in five of the nine subjects tested. In this study, 23% of children displaying intermediate sweat chloride levels were found to carry a putative mutation on both CFTR genes...
  2. ncbi Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells
    L Wei
    Department of Physiology, Campus Gasthuisberg, KU Leuven, Leuven, Belgium
    BMC Physiol 1:3. 2001
    ..This study describes the functional interaction between the putative Ca2+ channel TRP4 and the cystic fibrosis transmembrane conductance regulator, CFTR, in mouse aorta endothelium (MAEC)...
  3. ncbi Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    H Cuppens
    Center for Human Genetics, KULeuven, B 3000 Leuven, Belgium
    J Clin Invest 101:487-96. 1998
    ..Such polyvariant mutant genes could explain why apparently normal CFTR genes cause disease. Moreover, they might be responsible for variation in the phenotypic expression of CFTR mutations, and be of relevance in other genetic diseases...
  4. ncbi CFTR mutations and polymorphisms in male infertility
    Harry Cuppens
    Department for Human Genetics, KULeuven, Herestraat 49, O and N6, 3000 Leuven, Belgium
    Int J Androl 27:251-6. 2004
    ....
  5. ncbi Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease
    Wim Janssens
    Department of Human Genetics, Katholieke Universiteit Leuven, Gasthuisberg O and N1 602, Herestraat 49, B 3000, Leuven, Belgium
    Am J Respir Crit Care Med 182:163-9. 2010
    ..Objectives: We investigated whether genomic copy number variations of the beta-defensin gene cluster have a functional role in airway epithelial cells and associate with the presence of COPD...
  6. ncbi Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel
    Annick Vastiau
    Department of Human Genetics, Division of Human Mutations and Polymorphisms, KULeuven, Herestraat 49, Postbus 602, 3000 Leuven, Belgium
    FEBS Lett 579:3392-6. 2005
    ..Taken together our results show a direct and functional interaction between CFTR and PP2A...
  7. ncbi Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis
    Liesbet Henckaerts
    Department of Gastroenterology, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    J Hepatol 50:150-7. 2009
    ..The histological features in the liver of PSC patients are similar to those observed in cystic fibrosis (CF). Our aim was to study whether variants in the CFTR gene are associated with the occurrence and/or evolution of PSC...
  8. ncbi Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression
    Lishuang Cao
    Laboratory of Physiology, Catholic University of Leuven, Campus Gasthuisberg, Herestraat 49, B 3000, Leuven, Belgium
    Biochem Biophys Res Commun 304:248-52. 2003
    ..This indicated that repression of CFTR by MDR1 induction requires the presence of the native CFTR promoter...
  9. ncbi Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells
    Anne Vankeerberghen
    Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
    J Periodontol 76:1293-303. 2005
    ..CONCLUSION: The results suggest that a correlation can be found in diseased oral epithelium between the defensin profiles that are induced and the pathogenicity of the oral bacterial strains...
  10. ncbi Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations
    Els Dequeker
    Center for Human Genetics, Campus Gasthuisberg, KULeuven, Belgium
    Eur J Hum Genet 17:51-65. 2009
    ..Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling...
  11. ncbi The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions
    Anne Vankeerberghen
    Center for Human Genetics, University of Leuven, B 3000 Leuven, Belgium
    J Cyst Fibros 1:13-29. 2002
    ..Progress in cystic fibrosis research is substantial, but still leaves many questions unanswered...
  12. ncbi Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations
    Anne Vankeerberghen
    Department of Human Genetics, KULeuven, Herestraat 49, O and N6, 3000 Louvain, Belgium
    Genomics 85:574-81. 2005
    ..No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found...
  13. ncbi Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease
    Abul Kalam Azad
    Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
    Hum Mutat 30:1093-103. 2009
    ..W493R-SCNN1A mutation and a cystic fibrosis transmembrane conductance regulator (CFTR) gene that results in very low amounts (0-10%) functional CFTR. These ENaC/CFTR genotypes may play a hitherto unrecognized role in lung diseases...
  14. ncbi Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations
    Reza Alibakhshi
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
    J Cyst Fibros 7:102-9. 2008
    ..The type and distribution of mutations varies widely between different countries and/or ethnic groups, and is relatively unknown in Iran. We therefore performed a comprehensive analysis of the CFTR gene in Iranian CF patients...
  15. ncbi 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
    Claude Ferec
    INSERM, U613 Génétique Moléculaire et Génétique Epidémiologique, Brest, France
    Eur J Hum Genet 14:567-76. 2006
    ....
  16. ncbi Cystic fibrosis
    Harry Cuppens
    Department of Human Genetics, Katholieke Universiteit Leuven, Belgium
    Methods Mol Med 92:221-44. 2004
  17. ncbi The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis
    Frauke Stanke
    Department of Pediatrics, OE6711, Hannover Medical School, Carl Neuberg Str 1, 30625, Hannover, Germany
    Hum Genet 119:331-43. 2006
    ....