Exon skipping: methods and protocols
"Next generation" sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while...
Gespeichert in:
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| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
New York
Humana Press
2012
|
| Schriftenreihe: | Methods in molecular biology
867 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Zusammenfassung: | "Next generation" sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate "real polymorphisms" from mutations that affect splicing. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping |
| Beschreibung: | Includes bibliographical references and index |
| Beschreibung: | xi, 440 Seiten Diagramme 27 cm |
| ISBN: | 9781617797668 |
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| 520 | |a "Next generation" sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate "real polymorphisms" from mutations that affect splicing. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping | ||
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Datensatz im Suchindex
| _version_ | 1804149239493689344 |
|---|---|
| adam_text | Titel: Exon skipping
Autor: Aartsma-Rus, Annemieke
Jahr: 2012
Contents
Preface.............................................................. v
Contributors.......................................................... ix
Part I Mutations
1 DNA Diagnostics and Exon Skipping................................... 3
Umasuthan Srirangalingam and Shern L. Chew
2 Bioinformatics and Mutations Leading to Exon Skipping.................... 17
F.O. Desmet and C. Béroud
3 Minigenes to Confirm Exon Skipping Mutations.......................... 37
Lourdes R. Desviat, Belén Pérez, and Magdalena Ugarte
4 Analysis and Interpretation of RNA Splicing Alterations in Genes Involved
in Genetic Disorders................................................ 49
Maaike P.G. Vreeswijk and Heleen M. van der Klift
5 Exon Skipping Mutations in Neurofibromatosis........................... 65
Emanuele Buratti and Diana Baralle
Part II Tools to Induce Exon Skipping
6 Overview on Applications of Antisense-Mediated Exon Skipping............... 79
Willeke M.C. van Roon-Mom and Annemieke Aartsma-Rus
7 Overview on DMD Exon Skipping..................................... 97
Annemieke Aartsma-Rus
8 Overview on AON Design........................................... 117
Annemieke Aartsma-Rus
9 Optimizing RNA/ENA Chimeric Antisense Oligonucleotides Using
In Vitro Splicing................................................... 131
Yasuhiro Takeshima, Mariko Yogi, and Masafumi Matsuo
10 Optimizing Antisense Oligonucleotides Using Phosphorodiamidate
Morpholino Oligomers.............................................. 143
Linda J. Popplewell, Alberto Malerba, and George Dickson
11 Optimizing Splice-Switching Oligomer Sequences Using 2 -0-MethyI
Phosphorothioate Chemistry......................................... 169
Carl Adkin, Sue Fletcher, and Steve D. Wilton
12 Exon Skipping Quantification by Real-Time PCR.......................... 189
Alessandra Ferlini and Paola Rimessi
13 Antisense-Mediated Exon Skipping to Shift Alternative Splicing
to Treat Cancer................................................... 201
fing Wan
VII
viii Contents
14 Antisense-Mediated Exon Skipping to Generate Soluble Receptors............. 209
A. Seda Yilmaz-Elis and J. Sjef Verbeek
15 Antisense-Mediated Exon Skipping to Reframe Transcripts................... 221
Sandrina Turczynski, Matthias Titeux, Nathalie Pironon,
and Alain Hovnanian
16 Ul snRNA as an Effective Vector for Stable Expression of Antisense
Molecules and for the Inhibition of the Splicing Reaction.................... 239
Julie Martone, Fernanda Gabriella De Angelis, and Irene Bozzoni
17 Engineering U7snRNA Gene to Reframe Transcripts....................... 259
Aurélie Goyenvalle
18 Dynamic Fluorescent and Luminescent Reporters for Cell-Based
Splicing Screens................................................... 273
Claude C. Warzecha, Ruben Hovhannisyan, and Russ P. Carstens
19 Antisense-Mediated Exon-Skipping to Induce Gene Knockdown.............. 289
Petra Disterer and Bernard Khoo
20 Antisense-Mediated Exon Inclusion.................................... 307
Yimin Hua and Adrian R. Krainer
21 Antisense Genes to Induce Exon Inclusion............................... 325
Rachel Nlend Nlend and Daniel Schümperli
22 Using Mini-genes to Identify Factors That Modulate Alternative Splicing........ 349
Robert Morse, Adrian G. Todd, and Philip J. Young
Part III Delivery
23 Overview of Alternative Oligonucleotide Chemistries
for Exon Skipping.................................................. 365
Anter F. Saleh, Andrey A. Arzumanov, and Michael J. Gait
24 Identification of Peptides for Tissue-Specific Delivery....................... 379
Hans Heemskerk
25 Systemic Delivery of Antisense Oligomer in Animal Models
and Its Implications for Treating DMD.................................. 393
Qi Long Lu and Bo Wu
26 Cell-Penetrating Peptides Enhance Systemic Delivery
of Antisense Morpholino Oligomers.................................... 407
Hong M. Moulton
27 Optimizing Tissue-Specific Antisense Oligonucleotide-Peptide Conjugates....... 415
Corinne A. Betts, Suzan M. Hammond, Hai-fang Yin,
and Matthew J. A. Wood
Index............................................................... 437
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| illustrated | Not Illustrated |
| indexdate | 2024-07-10T00:19:52Z |
| institution | BVB |
| isbn | 9781617797668 |
| language | English |
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| physical | xi, 440 Seiten Diagramme 27 cm |
| publishDate | 2012 |
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| series | Methods in molecular biology |
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| spelling | Exon skipping methods and protocols edited by Annemieke Aartsma-Rus New York Humana Press 2012 xi, 440 Seiten Diagramme 27 cm txt rdacontent n rdamedia nc rdacarrier Methods in molecular biology 867 Springer protocols Includes bibliographical references and index "Next generation" sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate "real polymorphisms" from mutations that affect splicing. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping Biomedicine Human Genetics Exons (Genetics) / Laboratory manuals Exons / genetics / Laboratory Manuals Genetic Techniques / Laboratory Manuals Medicine Human genetics Aartsma-Rus, Annemieke (DE-588)1159167427 edt Erscheint auch als Online-Ausgabe, ebk. 978-1-61779-767-5 Methods in molecular biology 867 (DE-604)BV035362695 867 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025101868&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Exon skipping methods and protocols Methods in molecular biology Biomedicine Human Genetics Exons (Genetics) / Laboratory manuals Exons / genetics / Laboratory Manuals Genetic Techniques / Laboratory Manuals Medicine Human genetics |
| title | Exon skipping methods and protocols |
| title_auth | Exon skipping methods and protocols |
| title_exact_search | Exon skipping methods and protocols |
| title_full | Exon skipping methods and protocols edited by Annemieke Aartsma-Rus |
| title_fullStr | Exon skipping methods and protocols edited by Annemieke Aartsma-Rus |
| title_full_unstemmed | Exon skipping methods and protocols edited by Annemieke Aartsma-Rus |
| title_short | Exon skipping |
| title_sort | exon skipping methods and protocols |
| title_sub | methods and protocols |
| topic | Biomedicine Human Genetics Exons (Genetics) / Laboratory manuals Exons / genetics / Laboratory Manuals Genetic Techniques / Laboratory Manuals Medicine Human genetics |
| topic_facet | Biomedicine Human Genetics Exons (Genetics) / Laboratory manuals Exons / genetics / Laboratory Manuals Genetic Techniques / Laboratory Manuals Medicine Human genetics |
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