Cuppens, Harry: шукати на сайті Z-Library

Harry Cuppens, Peter Marynen, Christine De Boeck, Jean-Jacques Cassiman

Рік:

1998

Мова:

english

Файл:

PDF, 198 KB

english, 1998

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

Журнал:

Genomics

Рік:

1993

Мова:

english

Файл:

PDF, 579 KB

english, 1993

Identification of Multipotent Luminal Progenitor Cells in Human Prostate Organoid Cultures

Karthaus, Wouter R., Iaquinta, Phillip J., Drost, Jarno, Gracanin, Ana, van Boxtel, Ruben, Wongvipat, John, Dowling, Catherine M., Gao, Dong, Begthel, Harry, Sachs, Norman, Vries, Robert G.J., Cuppen,

Журнал:

Cell

Рік:

2014

Мова:

english

Файл:

PDF, 3.94 MB

english, 2014

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

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

Журнал:

Orphanet Journal of Rare Diseases

Рік:

2014

Мова:

english

Файл:

PDF, 381 KB

english, 2014

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

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

Журнал:

Рік:

1999

Мова:

english

Файл:

PDF, 282 KB

english, 1999

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

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

Журнал:

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

Рік:

1999

Мова:

english

Файл:

PDF, 13 KB

english, 1999

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

Журнал:

Molecular Reproduction and Development

Рік:

2000

Мова:

english

Файл:

PDF, 952 KB

english, 2000

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

Sylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, Caroline Bénech, Teresa Casals, Milan Macek Jr., Thierry Bienvenu, Trudi McDevitt, Philip M. Farrell, Ourida Loumi, Taieb Messaoud, Harry Cuppens, Gar

Журнал:

Pflügers Archiv European Journal of Physiology

Рік:

2010

Мова:

english

Файл:

PDF, 3.67 MB

english, 2010

Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells

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

Журнал:

BMC Physiology

Рік:

2001

Мова:

english

Файл:

PDF, 542 KB

english, 2001

Association between XV2c/CS7/KM19/D9 haplotypes and the ΔF508 mutation A study of 57 Belgian families

Harry Cuppens, Eric egius, Pablo Cabello, Peter Marynen, Chris De Boeck, Ronny Decorte, Jean-Pierre Fryns, Ephraim Eggermont, Herman Van den Berghe, Jean-Jacques Cassiman

Журнал:

Human Genetics

Рік:

1990

Мова:

english

Файл:

PDF, 226 KB

english, 1990

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

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

Журнал:

Рік:

2001

Мова:

english

Файл:

PDF, 86 KB

english, 2001

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

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

Журнал:

Human Genetics

Рік:

2006

Мова:

english

Файл:

PDF, 469 KB

english, 2006

CFTR mutations and polymorphisms in male infertility

Harry Cuppens, Jean-Jacques Cassiman

Журнал:

International Journal of Andrology

Рік:

2004

Мова:

english

Файл:

PDF, 101 KB

english, 2004

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

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

Журнал:

The Journal of Physiology

Рік:

1999

Мова:

english

Файл:

PDF, 524 KB

english, 1999

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

Dequeker, Els, Stuhrmann, Manfred, Morris, Michael A, Casals, Teresa, Castellani, Carlo, Claustres, Mireille, Cuppens, Harry, des Georges, Marie, Ferec, Claude, Macek, Milan

Журнал:

European Journal of Human Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 273 KB

english, 2008

The Wnt/β-catenin pathway regulates cardiac valve formation

Hurlstone, Adam F. L., Haramis, Anna-Pavlina G., Wienholds, Erno, Begthel, Harry, Korving, Jeroen, van Eeden, Fredericus, Cuppen, Edwin, Zivkovic, Danica, Plasterk, Ronald H. A., Clevers, Hans

Журнал:

Nature

Рік:

2003

Мова:

english

Файл:

PDF, 451 KB

english, 2003

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

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

Журнал:

The Journal of Physiology

Рік:

2010

Мова:

english

Файл:

PDF, 609 KB

english, 2010

Effects of a Mixture of Two Insecticides in Freshwater Microcosms: I. Fate of Chlorpyrifos and Lindane and Responses of Macroinvertebrates

Jan G. M. Cuppen, Steven J. H. Crum, Harry H. Van den Heuvel, Rob A. Smidt, Paul J. Van den Brink

Журнал:

Ecotoxicology

Рік:

2002

Мова:

english

Файл:

PDF, 199 KB

english, 2002

Localization of the gene encoding the α2subunit of the human VLA-2 receptor to chromosome 5q23-31

Martine Jaspers, Peter Marynen, Magdy Sayed Aly, Harry Cuppens, Carl Hilliker, Jean-Jacques Cassiman

Журнал:

Somatic Cell and Molecular Genetics

Рік:

1991

Мова:

english

Файл:

PDF, 714 KB

english, 1991

Accurate determination of copy number variations (CNVs): Application to the α- and β-defensin CNVs

Hilde Nuytten, Iwona Wlodarska, Kristiaan Nackaerts, Séverine Vermeire, Joris Vermeesch, Jean-Jacques Cassiman, Harry Cuppens

Журнал:

Journal of Immunological Methods

Рік:

2009

Мова:

english

Файл:

PDF, 1.01 MB

english, 2009

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

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

Журнал:

Clinical Genetics

Рік:

1994

Мова:

english

Файл:

PDF, 180 KB

english, 1994

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

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

Журнал:

Biochemical and Biophysical Research Communications

Рік:

2005

Мова:

english

Файл:

PDF, 160 KB

english, 2005

Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis

Liesbet Henckaerts, Martine Jaspers, Werner Van Steenbergen, Liesbet Vliegen, Johan Fevery, Hilde Nuytten, Tania Roskams, Paul Rutgeerts, Jean-Jacques Cassiman, Séverine Vermeire, Harry Cuppens

Журнал:

Journal of Hepatology

Рік:

2009

Мова:

english

Файл:

PDF, 228 KB

english, 2009

Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression

Lishuang Cao, Grzegorz Owsianik, Martine Jaspers, Annelies Janssens, Harry Cuppens, Jean-Jacques Cassiman, Bernd Nilius

Журнал:

Рік:

2003

Мова:

english

Файл:

PDF, 139 KB

english, 2003

Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR

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

Журнал:

Jean-Philippe Annereau, Ulrich Wulbrand, Anne Vankeerberghen, Harry Cuppens, François Bontems, Burkhard Tümmler, Jean-Jacques Cassiman, Véronique Stoven

Рік:

2000

Мова:

english

Файл:

PDF, 150 KB

english, 2000

A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator

Журнал:

Рік:

1997

Мова:

english

Файл:

PDF, 691 KB

english, 1997

Characterization of mutations located in exon 18 of the CFTR gene

Anne Vankeerberghen, Lin Wei, Hui Teng, Martine Jaspers, Jean-Jacques Cassiman, Bernd Nilius, Harry Cuppens

Журнал:

Рік:

1998

Мова:

english

Файл:

PDF, 139 KB

english, 1998

Phosphorylation site independent single R-domain mutations affect CFTR channel activity

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

Журнал:

Anne Vankeerberghen, Harry Cuppens, Jean-Jacques Cassiman

Рік:

1998

Мова:

english

Файл:

PDF, 275 KB

english, 1998

The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions

Журнал:

Reza Alibakhshi, Roya Kianishirazi, Jean-Jacques Cassiman, Mahdi Zamani, Harry Cuppens

Рік:

2002

Мова:

english

Файл:

PDF, 1.00 MB

english, 2002

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Журнал:

The Journal of Molecular Diagnostics

Рік:

2008

Мова:

english

Файл:

PDF, 288 KB

english, 2008

Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

Michils, GeneviÃ¨ve, Hollants, Silke, Dehaspe, Luc, Van Houdt, Jeroen, Bidet, Yannick, Uhrhammer, Nancy, Bignon, Yves-Jean, Vermeesch, Joris R., Cuppens, Harry, Matthijs, Gert

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 941 KB

english, 2012

Is there evidence for correct diagnosis in cystic fibrosis registries?

Thomas, Muriel, Lemonnier, Lydie, Gulmans, Vincent, Naehrlich, Lutz, Vermeulen, François, Cuppens, Harry, Castellani, Carlo, Norek, Aleksandra, De Boeck, Kris

Журнал:

Cuppens, Harry, Buyse, Inge, Baens, Mathijs, Marynen, Peter, Cassiman, Jean-Jacques

Рік:

2014

Мова:

english

Файл:

PDF, 193 KB

english, 2014

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot

Журнал:

Molecular and Cellular Probes

Рік:

1992

Мова:

english

Файл:

PDF, 4.02 MB

english, 1992

Mutations of the Cystic Fibrosis Gene and Intermediate Sweat Chloride Levels in Children

LEBECQUE, PATRICK, LEAL, TERESINHA, DE BOECK, CHRISTIANE, JASPERS, MARTINE, CUPPENS, HARRY, CASSIMAN, JEAN-JACQUES

Журнал:

American Journal of Respiratory and Critical Care Medicine

Рік:

2002

Мова:

english

Файл:

PDF, 80 KB

english, 2002

Functional Characterization of the CFTR R Domain Using CFTR/MDR1 Hybrid and Deletion Constructs †

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

Журнал:

Biochemistry

Рік:

1999

Мова:

english

Файл:

PDF, 207 KB

english, 1999

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

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

Журнал:

Journal of Periodontology

Рік:

2005

Мова:

english

Файл:

PDF, 503 KB

english, 2005

CFTR haplotype backgrounds on normal and mutant CFTR genes

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

Журнал:

Human Molecular Genetics

Рік:

1994

Мова:

english

Файл:

PDF, 743 KB

english, 1994

Rapid Detection of Hypervariable Regions by the Polymerase Chain Reaction Technique

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

Журнал:

DNA and Cell Biology

Рік:

1990

Мова:

english

Файл:

PDF, 7.64 MB

english, 1990

The 15q24/25 Susceptibility Variant for Lung Cancer and Chronic Obstructive Pulmonary Disease Is Associated with Emphysema

Lambrechts, Diether, Buysschaert, Ian, Zanen, Pieter, Coolen, Johan, Lays, Natacha, Cuppens, Harry, Groen, Harry J. M., Dewever, Walter, van Klaveren, Rob J., Verschakelen, Johny, Wijmenga, Cisca, Pos

Журнал:

American Journal of Respiratory and Critical Care Medicine

Рік:

2010

Мова:

english

Файл:

PDF, 107 KB

english, 2010

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

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

Журнал:

Cellular Physiology and Biochemistry

Рік:

2010

Мова:

english

Файл:

PDF, 321 KB

english, 2010

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

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

Журнал:

Human Molecular Genetics

Рік:

1992

Мова:

english

Файл:

PDF, 2.01 MB

english, 1992

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

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

Журнал:

Human Molecular Genetics

Рік:

1994

Мова:

english

Файл:

PDF, 136 KB

english, 1994

Genomic Copy Number Determines Functional Expression of β-Defensin 2 in Airway Epithelial Cells and Associates with Chronic Obstructive Pulmonary Disease

Janssens, Wim, Nuytten, Hilde, Dupont, Lieven J., Van Eldere, Johan, Vermeire, Severine, Lambrechts, Diether, Nackaerts, Kristiaan, Decramer, Marc, Cassiman, Jean-Jacques, Cuppens, Harry

Журнал:

American Journal of Respiratory and Critical Care Medicine

Рік:

2010

Мова:

english

Файл:

PDF, 828 KB

english, 2010

Genotype–Phenotype Correlations for the Paranasal Sinuses in Cystic Fibrosis

JORISSEN, MARK B., DE BOECK, KRIS, CUPPENS, HARRY

Журнал:

American Journal of Respiratory and Critical Care Medicine

Рік:

1999

Мова:

english

Файл:

PDF, 47 KB

english, 1999

Generation and characterization of rat liver stem cell lines and their engraftment in a rat model of liver failure

Kuijk, Ewart W., Rasmussen, Shauna, Blokzijl, Francis, Huch, Meritxell, Gehart, Helmuth, Toonen, Pim, Begthel, Harry, Clevers, Hans, Geurts, Aron M., Cuppen, Edwin

Журнал:

Scientific Reports

Рік:

2016

Мова:

english

Файл:

PDF, 2.13 MB

english, 2016

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

Bosch, Barbara, Bilton, Diana, Sosnay, Patrick, Raraigh, Karen S., Mak, Denise Y.F., Ishiguro, Hiroshi, Gulmans, Vincent, Thomas, Muriel, Cuppens, Harry, Amaral, Margarida, De Boeck, Kris

Журнал: