Genetic Basis for Respiratory Control Disorders

Editors: Gaultier, Claude (Ed.)

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  • Provides an overview of recent advances in the genetics of respiratory control in health and disease

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About this book

Genetic Basis for Respiratory Control Disorders provides an overview of the recent knowledge of the genetic factors underlying respiratory control disorders, an emerging field in respiratory biology. Identifying genes involved in respiratory control is crucial for understanding human diseases characterized by abnormal respiratory control, such as Prader-Willi syndrome, Rett syndrome, congenital central hypoventilation syndrome (CCHS), obstructive sleep apnea syndrome (OSAS), central sleep apnea syndrome, apneas of prematurity and sudden infant death syndrome (SIDS). Furthermore, genetic factors play a key role in respiratory control adaptation in health and disease, most notably in the respiratory response to intermittent hypoxia.

The objective of the book is to supply state-of-the-art contributions about all aspects of respiratory control genetics, from the molecular to the system level. The book aims to review the full spectrum of available knowledge, which starts with early physiological studies in health and disease in humans and studies in rodents that suggested a hereditary component to respiratory control. The spectrum extends to recent work elucidating crucial molecular aspects of respiratory control development, from early embryonic specifications in the neural tube to the function of respiratory rhythm generators.

Developmental programs and gene expression profiles of different neuron types in the respiratory-control neuronal network have been characterized, together with their control by specific sets of transcription factors. In mice, targeted inactivation of several transcription factors disrupts the development of specific respiratory-neuron groups and causes abnormal respiratory phenotypes. These effects are described in detail in the book, with . a special attention to was given to the role of the transcription factor Phox2b. The developmental and respiratory phenotypes in newborn mice with Phox2b gene deletion and in vitro investigations of human mutated PHOX2B proteins have shed light on the pathogenesis of CCHS. Respiratory control abnormalities in necdin-null mice and in mice lacking Mecp2 gene have provided new insights into the developmental origins of the respiratory disorders seen in Prader-Willi and Rett syndromes, respectively. Current genetic data in complex and multi-factorial respiratory disorders, including SIDS and OSAS, are described.

Genetic Basis for Respiratory Control Disorders emphasizes the potent synergy between human studies and mouse models of genetic disorders underlying respiratory control anomalies. The overview of current research presented in this book opens up the field to the development of new therapeutic strategies, especially in newborns and infants, who are the primary target of respiratory control disorders. This book is addressed to pediatricians, neonatologists, pulmonologists, respiratory physiologists as well as geneticists.

Table of contents (17 chapters)

Table of contents (17 chapters)
  • Respiratory control disorders: from genes to patients and back

    Pages 1-8

    Gozal, David

  • Hereditary aspects of respiratory control in health and disease in humans

    Pages 9-23

    Weil, John V.

  • Phox2b and the homeostatic brain

    Pages 25-44

    Brunet, Jean-Fran├žois (et al.)

  • Congenital central hypoventilation syndrome: from patients to gene discovery

    Pages 45-55

    Trang, Ha

  • Structural and functional brain abnormalities in Congenital Central Hypoventilation Syndrome

    Pages 57-70

    Harper, Ronald M. (et al.)

Buy this book

eBook $149.00
price for USA in USD
  • ISBN 978-0-387-70765-5
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $199.99
price for USA in USD
  • ISBN 978-0-387-70764-8
  • Free shipping for individuals worldwide
  • Institutional customers should get in touch with their account manager
  • Covid-19 shipping restrictions
  • Usually ready to be dispatched within 3 to 5 business days, if in stock
Softcover $199.99
price for USA in USD
  • ISBN 978-1-4899-8892-8
  • Free shipping for individuals worldwide
  • Institutional customers should get in touch with their account manager
  • Covid-19 shipping restrictions
  • Usually ready to be dispatched within 3 to 5 business days, if in stock
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Bibliographic Information

Bibliographic Information
Book Title
Genetic Basis for Respiratory Control Disorders
Editors
  • Claude Gaultier
Copyright
2008
Publisher
Springer US
Copyright Holder
Springer-Verlag US
eBook ISBN
978-0-387-70765-5
DOI
10.1007/978-0-387-70765-5
Hardcover ISBN
978-0-387-70764-8
Softcover ISBN
978-1-4899-8892-8
Edition Number
1
Number of Pages
XXXI, 324
Topics