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Amaral, Margarida D. (Herausgeber); Kunzelmann, Karl (Herausgeber)

Cystic Fibrosis Diagnosis and Protocols, Volume I: Approaches to Study and Correct CFTR Defects (Gebundene Ausgabe)

Reihe: Methods in Molecular Biology 741

Springer-Verlag GmbH, Humana Press, Mai 2011

528 S. - Sprache: Englisch - 73 schwarz-weiße und 3 farbige Abbildungen, 15 schwarz-weiße Tabellen - 266x187x37 mm Book

ISBN: 1617791164 EAN: 9781617791161

Despite the many milestones in cystic fibrosis (CF) research, progress towards curing the disease has been slow, and it is increasingly difficult to grasp and use the already wide and still growing range of diverse methods currently employed to study CF so as to understand it in its multidisciplinary nature.  Cystic Fibrosis: Diagnosis and Protocols aims to provide the CF research community and related researchers with a very wide range of high-quality experimental tools, as an easy way to grasp and use classical and novel methods applied to cystic fibrosis.  Volume I: Approaches to Study and Correct CFTR Defects focuses on the cystic fibrosis transmembrane conductance regulator (CFTR) and its expression, biogenesis, structure, and function in terms of the defects causing CF.  Written in the highly successful Methods in Molecular Biology(TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.  Comprehensive and practical, Cystic Fibrosis: Diagnosis and Protocols will provide readers with optimal working tools to address pressing questions in the best technical way, while helping all of us, as a research and clinical community, to move faster hand-in-hand toward unravelling the secrets of this challenging disorder and cure it.

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Features cutting-edge protocols from the highly supportive CF scientific communityContains expert tips and key implementation adviceFocuses on Cystic fibrosis transmembrane conductance regulator defects with an emphasis on practical approaches


Part I: Strategies to Correct the Basic Defect in CF and Assess Efficacy in Human Clinical Trials 1. Introduction to Part I: The Relevance of CF Diagnostic Tools for Measuring Restoration of CFTR Function after Therapeutic Interventions in Human Clinical Trials            Kris De Boeck and Melissa Ashlock 2. High-Throughput Screening of Libraries of Compounds to Identify CFTR Modulators            Nicoletta Pedemonte, Olga Zegarra-Moran, and Luis J.V. Galietta 3. Repair of CFTR Folding Defects with Correctors that Function as Pharmacological Chaperones            Tip W. Loo and David M. Clarke 4. Use of Primary Cultures of Human Bronchial Epithelial Cells Isolated from Cystic Fibrosis Patients for the Pre-Clinical Testing of CFTR Modulators            Tim Neuberger, Bill Burton, Heather Clark, and Fredrick Van Goor 5. Design of Gene Therapy Trials in CF Patients            Jane C. Davies and Eric W.F.W. Alton 6. Nasal Potential Difference Measurements to Assess CFTR Ion Channel Activity            Steven M. Rowe, Jean-Paul Clancy, and Michael Wilschanski 7. Measurement of Ion Transport Function in Rectal Biopsies            Martin J. Hug, Nico Derichs, Inez Bronsveld, and Jean Paul Clancy Part II: RNA Methods to Approach CFTR Expression 8. Introduction to Part II: RNA Methods to Approach CFTR Expression            Ann Harris 9. Quantification of CFTR Transcripts            Anabela S. Ramalho, Luka A. Clarke, and Margarida D. Amaral 10. Nonsense-Mediated mRNA Decay and Cystic Fibrosis            Liat Linde and Batsheva Kerem 11. Approaches to Study CFTR Pre-mRNA Splicing Defects            Elisa Goina, Eugenio Fernandez-Alanis, and Franco Pagani 12. Impact of MicroRNA in Normal and Pathological Respiratory Epithelia            Lisa Giovannini-Chami, Nathalie Grandvaux, Laure-Emmanuelle Zaragosi, Karine Robbe-Sermesant, Brice Marcet, Bruno Cardinaud, Christelle Coraux, Yves Berthiaume, Rainer Waldmann, Bernard Mari, and Pascal Barbry 13. Genomic Approaches to Studying CFTR Transcriptional Regulation            Christopher J. Ott and Ann Harris Part III: CFTR Protein Biogenesis, Folding, Degradation, and Traffic 14. Introduction to Part III: Biochemical Methods to Study CFTR Protein            Margarida D. Amaral and Gergely L. Lukacs 15. Analysis of CFTR Folding and Degradation in Transiently Transfected Cells            Diane E. Grove, Meredith F. N. Rosser, Richard L. Watkins, and Douglas M. Cyr 16. In Vitro Methods for CFTR Biogenesis            Yoshihiro Matsumura, LeeAnn Rooney, and William R. Skach 17. Analysis of CFTR Interactome in the Macromolecular Complexes            Chunying Li and Anjaparavanda P. Naren 18. Methods to Monitor Cell Surface Expression and Endocytic Trafficking of CFTR in Polarized Epithelial Cells            Jennifer M. Bomberger, William B. Guggino, and Bruce A. Stanton 19. Segmental and Subcellular Distribution of CFTR in the Kidney            François Jouret, Pierre J. Courtoy, and Olivier Devuyst 20. Endocytic Sorting of CFTR Variants Monitored by Single Cell Fluorescence Ratio Image Analysis (FRIA) in Living Cells            Herve Barrière, Pirjo Apaja, Tsukasa Okiyoneda, and Gergely L. Lukacs Part IV: CFTR Structure 21. Introduction to Part IV: Biophysical Methods to Approach CFTR Structure            Juan L. Mendoza, André Schmidt, and Philip J. Thomas 22. CFTR Three-Dimensional Structure            Robert C. Ford, James Birtley, Mark F. Rosenberg, and Liang Zhang 23. Molecular Modeling Tools and Approaches for CFTR and Cystic Fibrosis            Adrian W.R. Serohijos, Patrick H. Thibodeau, and Nikolay V. Dokholyan 24. Biochemical and Biophysical Approaches to Probe CFTR Structure            André Schmidt, Juan L. Mendoza, and Philip J. Thomas 25. NMR Spectroscopy to Study the Dynamics and Interactions of CFTR            Voula Kanelis, P. Andrew Chong, and Julie D. Forman-Kay Part V: CFTR Function 26. Introduction to Part V: Assessment of CFTR Function            Karl Kunzelmann 27. Application of High-Resolution Single-Channel Recording to Functional Studies of Cystic Fibrosis Mutants            Zhiwei Cai, Yoshiro Sohma, Silvia G. Bompadre, David N. Sheppard, and Tzyh-Chang Hwang 28. Electrophysiological, Biochemical, and Bioinformatic Methods for Studying CFTR Channel Gating and Its Regulation            László Csanády, Paola Vergani, Attila Gulyás-Kovács, and David C. Gadsby 29. CFTR Regulation by Phosphorylation            Rodrigo Alzamora, J. Darwin King, Jr., and Kenneth R. Hallows 30. How to Measure CFTR-Dependent Bicarbonate Transport: From Single Channels to the Intact Epithelium            Martin J. Hug, Lane L. Clarke, and Michael A. Gray


From the reviews:"Summarize the current complex information on cystic fibrosis (CF) and the innovative new technologies available to basic scientists involved in the study of CF. ... This detailed book is aimed at basic research scientists and academicians working on CF. The protocols would be of use to graduate students and postdoctoral fellows as well. ... technology described would be invaluable to clinical laboratories involved in the diagnosis of CF. This represents a must-have guide for research laboratories working on the functional mechanisms of the CFTR gene." (Luis F. Escobar, Doody's Book Reviews, March, 2012)

ISBN 1-617791-16-4, ISBN 1-61-779116-4, ISBN 1-61779-116-4, ISBN 1-617-79116-4, ISBN 1-6177-9116-4

ISBN 978-1-617791-16-1, ISBN 978-1-61-779116-1, ISBN 978-1-61779-116-1, ISBN 978-1-617-79116-1, ISBN 978-1-6177-9116-1

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