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Your search keyword '"Frauke Stanke"' showing total 12 results
Start Over Author "Frauke Stanke" Journal journal of cystic fibrosis
12 results on '"Frauke Stanke"'

3. WS09.1 ICM and NPD diagnostics of cases with inconclusive CFTR genetics and sweat test: a single-centre 10-year experience

Author

Felix C. Ringshausen, Burkhard Tümmler, Carsten Müller, Annette Sauer-Heilborn, Frauke Stanke, Angela Schulz, Nadine Alfeis, Cornelia Stolpe, S. Tamm, Rebecca Minso, Gesine Hansen, Tobias Welte, Anna-Maria Dittrich, Christian Dopfer, and S. Junge

Subjects
Pulmonary and Respiratory Medicine, Single centre, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Pediatrics, Perinatology and Child Health, Medicine, business, medicine.disease, Dermatology, Cystic fibrosis, Sweat test
Published
2020
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6. EPS2.07 Intestinal current and nasal potential difference index cases: diagnostic features of subjects with CFTR-related disorder

Author

Nadine Alfeis, Frauke Stanke, Rebecca Hyde, Christian Dopfer, L. Gyulumyan, S. Tamm, and Burkhard Tümmler

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, Index (economics), business.industry, medicine.disease, Cystic fibrosis, Gastroenterology, Potential difference, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Related disorder, Current (fluid), business
Published
2018
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7. CFTR protein analysis of splice site mutation 2789+5 G-A

Author

Manfred Ballmann, Burkhard Tümmler, Andrea van Barneveld, Andreas Claaß, and Frauke Stanke

Subjects
Male, Pulmonary and Respiratory Medicine, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Biopsy, DNA Mutational Analysis, Immunoblotting, Rectal biopsy, Mutant, Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease_cause, Cystic fibrosis, Frameshift mutation, Mutant protein, Humans, Medicine, RNA, Messenger, Pediatrics, Perinatology, and Child Health, CFTR, Child, Mutation, Messenger RNA, Splice site mutation, business.industry, Rectum, respiratory system, Molecular biology, respiratory tract diseases, Pediatrics, Perinatology and Child Health, RNA splicing, Intestinal current measurement, business, Ex vivo
Abstract

Ex vivo biochemical analysis of rectal biopsies of a carrier of the mild 2789+5 G-A CFTR frameshift splice site mutation revealed mutant truncated CFTR of expected size and an imbalance of more core-glycosylated and less mature full-length CFTR. This first immunoblot analysis of a non-F508del CFTR mutant protein derived from human tissue demonstrates that splice site mutations should not only be investigated at the mRNA, but also at the protein level to properly interpret the associations between genotype, molecular pathology and disease.

Published
2008
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8. ENaC mutations in patients with CF-like disease

Author

Carlo Castellani, Burkhard Tümmler, Hilde Nuytten, Abul Kalam Azad, E. Girodon, Manfred Stuhrmann, K. De Boeck, Veronika Skalická, Christoph Korbmacher, M. des Georges, Frauke Stanke, Marianne Schwartz, Judit Korbmacher, Martin Schwarz, Mireille Claustres, Robert Rauh, T. Pressler, Yann Fichou, I. de Monestrol, J J Cassiman, L. Dupont, Claude Férec, Lena Hjelte, Patrick Lebecque, and H. Cuppens

Subjects
Epithelial sodium channel, Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Disease, medicine.disease, Cystic fibrosis, Gastroenterology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, In patient, Pediatrics, Perinatology, and Child Health, business
Published
2008
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9. 18 Analysis of the CLCA-gene cluster as a modulator of Cystic Fibrosis

Author

B. Siebert, Burkhard Tümmler, S. Jansen, Margit Ritzka, Andrea van Barneveld, Manfred Ballmann, E.W. Kolbe, Ulrike Laabs, Frauke Stanke, and I. Leverköhne

Subjects
Pulmonary and Respiratory Medicine, business.industry, Pediatrics, Perinatology and Child Health, Gene cluster, Cancer research, Medicine, Pediatrics, Perinatology, and Child Health, business, medicine.disease, Cystic fibrosis
Published
2006
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10. 17 The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in Cystic Fibrosis

Author

Vijay Kumar, J. Yarden, Harry Cuppens, S. Jansen, D.W. Ussery, J J Cassiman, T.F. Wienker, B. Siebert, Frauke Stanke, Tim Becker, Burkhard Tümmler, and Dragica Radojkovic

Subjects
Pulmonary and Respiratory Medicine, Epithelial sodium channel, business.industry, Sodium channel, Pharmacology, medicine.disease, Cystic fibrosis, Amiloride, Pediatrics, Perinatology and Child Health, medicine, Tumor necrosis factor alpha, Pediatrics, Perinatology, and Child Health, business, Receptor, Gene, medicine.drug
Published
2006
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