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Cerebral Cavernous Malformations (CCM)

Methods and Protocols

  • Book
  • © 2020

Overview

Editors:
  1. Lorenza Trabalzini

    1. Department of Biotechnology, Chemistry and Pharmacy, University of Siena, SIENA, Italy

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  2. Federica Finetti

    1. Department of Biotechnology, Chemistry and Pharmacy, University of Siena, SIENA, Italy

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  3. Saverio Francesco Retta

    1. Department of Clinical and Biological Sciences, School of Medicine and Surgery, University of Torino, ORBASSANO (TORINO), Italy

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  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts

Part of the book series: Methods in Molecular Biology (MIMB, volume 2152)

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Table of contents (36 protocols)

  1. Front Matter

    Pages i-xv
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  2. Overview of Cerebral Cavernous Malformations

    1. Front Matter

      Pages 1-1
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    2. From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease

      • Saverio Francesco Retta, Andrea Perrelli, Lorenza Trabalzini, Federica Finetti
      Pages 3-25

    3. Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations

      • Kelly D. Flemming
      Pages 27-33

    4. Natural History, Clinical, and Surgical Management of Cavernous Malformations

      • Giovanni G. Vercelli, Fabio Cofano, Filippo Veneziani Santonio, Francesca Vincitorio, Francesco Zenga, Diego Garbossa
      Pages 35-46

  3. Diagnosis and Treatment of Cerebral Cavernous Malformations

    1. Front Matter

      Pages 47-47
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    2. Molecular Genetic Screening of CCM Patients: An Overview

      • Elisabeth Tournier-Lasserve
      Pages 49-57

    3. Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease

      • Valerio Benedetti, Elisa Pellegrino, Alfredo Brusco, Roberto Piva, Saverio Francesco Retta
      Pages 59-75

    4. Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity

      • Hélène Choquet, Helen Kim
      Pages 77-84

    5. Clinical Imaging of Cerebral Cavernous Malformations: Computed Tomography and Magnetic Resonance Imaging

      • Marc Mabray, Blaine Hart
      Pages 85-96

    6. Neuroradiology: Differential Diagnosis, Follow-Up, and Reporting

      • Alessandra Splendiani, Federico Bruno, Alfonso Cerase
      Pages 97-107

    7. Surgical Management of Brain Cavernous Malformations

      • Marco M. Fontanella, Luca Zanin, Alessandro Fiorindi, Giannantonio Spena, Federico Nicolosi, Francesco Belotti et al.
      Pages 109-128

  4. Animal and Cellular Models of Cerebral Cavernous Malformations

    1. Front Matter

      Pages 129-129
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    2. Generation of CCM Phenotype by a Human Microvascular Endothelial Model

      • Simona Delle Monache, Saverio Francesco Retta
      Pages 131-137

    3. Isolation and Purification of Mouse Brain Endothelial Cells to Study Cerebral Cavernous Malformation Disease

      • Preston Hale, Shady Ibrahim Soliman, Hao Sun, Miguel Alejandro Lopez-Ramirez
      Pages 139-150

    4. Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease

      • Luca Goitre, Claudia Fornelli, Alessia Zotta, Andrea Perrelli, Saverio Francesco Retta
      Pages 151-167

    5. CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease

      • Konrad Schwefel, Stefanie Spiegler, Christiane D. Much, Ute Felbor, Matthias Rath
      Pages 169-177

    6. Dissection of the Role of CCM Genes in Tubulogenesis Using the Drosophila Tracheal System as a Model

      • Alondra B. Schweizer Burguete, Amin S. Ghabrial
      Pages 179-189

    7. Generation and Analysis of CCM Phenotypes in C. elegans

      • Evelyn Popiel, William Brent Derry
      Pages 191-205

    8. Generation of Transgenic Lines of Zebrafish Expressing Fluorescently Tagged CCM Proteins to Study Their Function and Subcellular Localization Within the Vasculature

      • Stefan Donat, Salim Abdelilah-Seyfried
      Pages 207-224
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Keywords

About this book

This volume provides experimental approaches aimed to characterize the Cerebral Cavernous Malformations (CCM) disease and to define the cellular and molecular mechanisms underlying this pathology. Chapters are divided into four sections providing a general overview of the natural history, epidemiology, and pathogenetic mechanisms of CCM disease, describing methods currently used for diagnosis and treatment, production and analysis of distinct cellular and animal models in which CCM can be studied, and different methodological approaches to study the mechanisms underlying the CCM onset and progression. 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 tips on troubleshooting and avoiding known pitfalls.

Authoritative and cutting-edge, Cerebral Cavernous Malformations (CCM): Methods and Protocols  aims to ensure successful results in the further study of this complex disease and its pathophysiologic correlates.

Editors and Affiliations

  • Department of Biotechnology, Chemistry and Pharmacy, University of Siena, SIENA, Italy

    Lorenza Trabalzini, Federica Finetti

  • Department of Clinical and Biological Sciences, School of Medicine and Surgery, University of Torino, ORBASSANO (TORINO), Italy

    Saverio Francesco Retta

Bibliographic Information

  • Book Title: Cerebral Cavernous Malformations (CCM)

  • Book Subtitle: Methods and Protocols

  • Editors: Lorenza Trabalzini, Federica Finetti, Saverio Francesco Retta

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-0716-0640-7

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media, LLC, part of Springer Nature 2020

  • Hardcover ISBN: 978-1-0716-0639-1Published: 11 June 2020

  • Softcover ISBN: 978-1-0716-0642-1Published: 11 June 2020

  • eBook ISBN: 978-1-0716-0640-7Published: 10 June 2020

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XV, 496

  • Number of Illustrations: 24 b/w illustrations, 62 illustrations in colour

  • Topics: Molecular Medicine

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