Genetic Basis for Respiratory Control Disorders

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 charac...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: Gaultier, Claude., SpringerLink (Online service)
Formato: Digital
Publicado em:
Assuntos:
Genética humana
Neurociências.
Pneumologia.
Pediatria.
Neurobiology.
Endereço do item:http://dx.doi.org/10.1007/978-0-387-70765-5
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
id oai:localhost:123456789-129909
record_format dspace
spelling oai:localhost:123456789-1299092023-07-17T15:13:31Z Genetic Basis for Respiratory Control Disorders Gaultier, Claude. SpringerLink (Online service) Genética humana Neurociências. Pneumologia. Pediatria. Neurobiology. 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. 0 2022-10-06T07:53:36Z 2022-10-06T07:53:36Z 2008. Digital 575.113 G271g 9780387707655 198052 http://dx.doi.org/10.1007/978-0-387-70765-5 http://dx.doi.org/10.1007/978-0-387-70765-5
institution Acervo SISBI
collection SIGAA
topic Genética humana
Neurociências.
Pneumologia.
Pediatria.
Neurobiology.
spellingShingle Genética humana
Neurociências.
Pneumologia.
Pediatria.
Neurobiology.
Gaultier, Claude.
SpringerLink (Online service)
Genetic Basis for Respiratory Control Disorders
description 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.
format Digital
author Gaultier, Claude.
SpringerLink (Online service)
author_facet Gaultier, Claude.
SpringerLink (Online service)
author_sort Gaultier, Claude.
title Genetic Basis for Respiratory Control Disorders
title_short Genetic Basis for Respiratory Control Disorders
title_full Genetic Basis for Respiratory Control Disorders
title_fullStr Genetic Basis for Respiratory Control Disorders
title_full_unstemmed Genetic Basis for Respiratory Control Disorders
title_sort genetic basis for respiratory control disorders
publishDate 2022
url http://dx.doi.org/10.1007/978-0-387-70765-5
work_keys_str_mv AT gaultierclaude geneticbasisforrespiratorycontroldisorders
AT springerlinkonlineservice geneticbasisforrespiratorycontroldisorders
_version_ 1771688040557707264

Registros relacionados