Main description:

Bringing together top-level contributions on all aspects of the subject, this book provides an overview of the recent advances in the genetics of respiratory control in health and disease. It also shows how combined studies in humans and mouse models have helped to improve our understanding of the mechanisms that underlie genetically determined respiratory control disorders with the goal of developing new therapeutic interventions.

Contents:

Respiratory control disorders: from genes to patients and back.- Hereditary aspects of respiratory control in health and disease in humans.- Congenital central hypoventilation syndrome: from patients to gene discovery.- Phox2b and the homeostatic brain.- Congenital central hypoventilation syndrome: from patients to gene discovery.- Structural and functional brain abnormalities in congenital central hypoventilation syndrome.- In vitro studies of Phox2b gene mutations in congenital central hypoventilation syndrome.- Sudden infant death syndrome: study of genes pertinent to cardiorespiratory and autonomic regulation.- Genetic basis for obstructive sleep apnea syndrome: what role for variation in respiratory control?- Apnea and irregular breathing in animal models: a physiogenomic approach.- Genetic determinants of respiratory phenotype in mice.- Genes and development of respiratory rhythm generation.- Transcription factor control of central respiratory neuron development.- Lessons from mutant newborn mice with respiratory control deficits.- Tentative mouse model for the congenital central hypoventilation syndrome: heterozygous Phox2b mutant newborn mice.- Respiratory control abnormalities in necdin-deficient mice: implications for the pathogenesis of Prader-Willi syndrome.- Possible role of bioaminergic systems in respiratory disorders of Rett syndrome.- Respiratory plasticity following intermittent hypoxia: a guide for novel therapeutic approaches to ventilatory control disorders.