Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ulrike Laabs"'
Autor:
Frauke Stanke, Dragica Radojkovic, Silke Hedtfeld, Joachim Greipel, Stephanie Tamm, Milan Macek, Harry Cuppens, Ulrike Laabs, Luis Fernández, Manfred Ballmann, Thomas F. Wienker, Christian Becker, Vinod Kumar, J. Yarden, Jean-Jacques Cassiman, Benny Siebert, Burkhard Tümmler, Tim Becker
Publikováno v:
Journal of Medical Genetics
Background The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. Methods Patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470de2f3c22a431cc308fc86a51fd625
http://europepmc.org/articles/PMC3003880
http://europepmc.org/articles/PMC3003880
Publikováno v:
Human Genetics. 112:1-11
Cystic fibrosis (CF) is the most common severe autosomal recessive disease among Caucasians and is caused by lesions within the cystic fibrosis transmembrane conductance regulator ( CFTR) gene. The variability of CF disease severity suggests the effe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e832e229dafd747dc6e27692ef6e7ff9
https://doi.org/10.1007/s00439-002-0839-7
https://doi.org/10.1007/s00439-002-0839-7
Autor:
Ulrike Laabs, Helmut Ellemunter, Stephen Thomas, Dicky J. J. Halley, Burkhard Tümmler, J. Bijman, Gianni Mastella, Manfred Ballmann, Inez Bronsveld, Frauke Mekus, H. J. Veeze, Hugo R. de Jonge
Publikováno v:
Journal of Clinical Investigation. 108:1705-1715
To investigate the impact of chloride (Cl(-)) permeability, mediated by residual activity of the cystic fibrosis transmembrane conductance regulator (CFTR) or by other Cl(-) channels, on the manifestations of cystic fibrosis (CF), we determined Cl(-)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852d122d66f9b9d8eb57eabb44d49898
https://doi.org/10.1172/jci12108
https://doi.org/10.1172/jci12108
Autor:
Dicky J. J. Halley, Roger Busche, Joachim Hundrieser, Inez Bronsveld, J. Bijman, Hugo R. de Jonge, Joachim Greipel, H. J. Veeze, Ulrike Laabs, Burkhard Tümmler, Manfred Ballmann, Frauke Mekus
Publikováno v:
Gastroenterology. 119:32-40
Background & Aims: Cholinergic stimulation of chloride secretion is impaired in the intestines of patients with cystic fibrosis (CF). However, intestinal chloride secretion has been observed in patients with mild CF mutations. The aim of this study w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::530aa3d43aed66f35b4aac18217b5ad0
https://doi.org/10.1053/gast.2000.8524
https://doi.org/10.1053/gast.2000.8524
Autor:
Hannah Blau, J. Bijman, Frauke Stanke, H. K. Harms, Inez Bronsveld, Thilo Dörk, G. Mastella, Manfred Ballmann, Ulrike Laabs, Margit Ritzka, Burkhard Tümmler, Hans-Georg Posselt, Nico Derichs, Sabina Gallati, H. J. Veeze, Matthias Griese
Publikováno v:
Journal of medical genetics. 45(1)
Background: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases. Methods: 17 individuals who are homozygous for deletions, missense, s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23acb021b4576f69d87e909acef71059
https://pubmed.ncbi.nlm.nih.gov/18178635
https://pubmed.ncbi.nlm.nih.gov/18178635
Autor:
Suriya Jayawardena, Kalai Mathee, Kok-Fai Kong, Lutz Wiehlmann, Ulrike Laabs, Aimee del Puerto, Burkhard Tümmler
Publikováno v:
Gene. 358
Pseudomonas aeruginosa is the major pathogen associated with morbidity and mortality of patients with cystic fibrosis. One of the reasons for the failure of beta-lactam antibiotic regimens appears to be mediated by de-regulation of the ampC gene, enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f6f17b4c110adbc542d146cc992c658
https://pubmed.ncbi.nlm.nih.gov/16120476
https://pubmed.ncbi.nlm.nih.gov/16120476
Autor:
B. Siebert, Burkhard Tümmler, S. Jansen, Margit Ritzka, Andrea van Barneveld, Manfred Ballmann, E.W. Kolbe, Ulrike Laabs, Frauke Stanke, I. Leverköhne
Publikováno v:
Journal of Cystic Fibrosis. 5:S5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ccda4056df9135a78e57ebfe4582d8e
https://doi.org/10.1016/s1569-1993(06)80019-6
https://doi.org/10.1016/s1569-1993(06)80019-6