Genomes and Genes
- PHOX2B mutations and ventilatory controlJorge Gallego
INSERM, U676, Hopital Robert Debre, 48 Bd Serurier, 75019 Paris, France
Respir Physiol Neurobiol 164:49-54. 2008..The generation of mouse models of CCHS provides tools for evaluating treatments aimed at alleviating both the respiratory symptoms and all other autonomic symptoms of CCHS...
- Impaired ventilatory and thermoregulatory responses to hypoxic stress in newborn phox2b heterozygous knock-out miceNelina Ramanantsoa
INSERM, UMR 676, Robert Debré Hospital Paris, France
Front Physiol 2:61. 2011..We conclude that Phox2b haploinsufficiency alters the ability of newborns to cope with metabolic challenges, possibly due to 5-HT signaling impairments...
- Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromesJorge Gallego
Inserm U676 and University of Paris Diderot, Paris, France
Compr Physiol 2:2255-79. 2012..This knowledge is relevant for the clinical management of many respiratory disorders that are far more prevalent than the rare diseases discussed here...
- The vesicular glutamate transporter VGLUT3 contributes to protection against neonatal hypoxic stressStéphanie Miot
Institut National de la Sante et de la Recherche Medicale INSERM, U952, 75005 Paris, France
J Physiol 590:5183-98. 2012..We conclude that VGLUT3 expression is dispensable under basal conditions but is required for optimal response to hypoxic stress in neonates...
- Arousal response to hypoxia in newborns: Insights from animal modelsJorge Gallego
INSERM UMR676, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Biol Psychol 84:39-45. 2010..Newborn mice can learn to associate novel odors to hypoxia and respond to those odors by producing alerting responses, suggesting that the arousal response to hypoxia may be shaped by learning processes...
- Breathing without CO(2) chemosensitivity in conditional Phox2b mutantsNelina Ramanantsoa
Institut National de la Santé et de la Recherche Médicale INSERM U676, Hopital Robert Debre, 75019 Paris, France
J Neurosci 31:12880-8. 2011..Hence, during the early life of rodents, the excitatory input normally afforded by elevated CO(2) is dispensable for life-sustaining breathing and maintaining CO(2) homeostasis in the blood...
- PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse modelsJeanne Amiel
INSERM U781, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France
Respir Physiol Neurobiol 168:125-32. 2009..To date, the reason for the selective vulnerability of RTN/pFRG neurons to PHOX2B protein dysfunction remains unexplained...
- Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2bEstelle Durand
INSERM U676, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Am J Respir Crit Care Med 172:238-43. 2005..Heterozygous mutations of the homeobox gene Phox2b were recently found in a very high proportion of patients...
- Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathwaysStephane Dauger
Laboratoire de Neurologie et Physiologie du Développement, INSERM EPI9935, Hopital Robert Debre, 48 Bd Serurier, 75019 Paris, France
Development 130:6635-42. 2003....
- Cold stimulates the behavioral response to hypoxia in newborn miceBieke Bollen
INSERM, UMR 676, Robert Debre Teaching Hospital, 75019 Paris, France
Am J Physiol Regul Integr Comp Physiol 296:R1503-11. 2009..The dissociation between ventilatory and behavioral responses to hypoxia suggests that deficits in the arousal response associated with sleep breathing disorders cannot be attributed to a depressed hypoxic response...
- Genetics and early disturbances of breathing controlClaude Gaultier
INSERM E9935, Réanimation Médicale Pédiatrique, Hopital Robert Debre, 75019 Paris, France
Pediatr Res 55:729-33. 2004..Recent insights into the genetic basis for CCHS may shed light on the genetics of other early disturbances in breathing control, such as apnea of prematurity and sudden infant death syndrome...
- Ventilatory control in newborn mice prenatally exposed to cocaineFanny Autret
Laboratoire de Neurologie et Physiologie du Développement, INSERM E9935, Hopital Robert Debre, Paris, France
Pediatr Pulmonol 34:434-41. 2002..25 +/- 23%).Thus, breathing control was impaired by prenatal cocaine exposure, possibly because of abnormal development of neurotransmitter systems, such as the dopamine and serotonin systems...
- Transgenic models to study disorders of respiratory control in newborn miceClaude Gaultier
Service de Physiologie and INSERM U676, Hopital Robert Debre, Paris, France
ILAR J 47:15-21. 2006..Furthermore, combined studies in mutant newborn mice and in humans have helped to provide pathogenic information on genetically determined developmental disorders of respiratory control in humans...
- Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Claude Gaultier
Service de Physiologie, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Pediatr Res 58:1-6. 2005..Furthermore, the development of genetic mouse models should help to improve our understanding of the molecular mechanisms underlying neural crest disorders...
- Learned defense response to hypoxia in newborn miceBieke Bollen
INSERM, U676, Robert Debre Teaching Hospital, 75019 Paris, France, and Laboratory of Biological Psychology, Department of Psychology, University of Leuven, B 3000 Leuven, Belgium
Neurosci Lett 420:268-72. 2007..Newborn mice produced significantly more USVs when exposed to the odor previously paired with hypoxia than to the control odor. Thus, associative learning may shape the defense response to hypoxia in newborns...
- Neonatal exposure to 65% oxygen durably impairs lung architecture and breathing pattern in adult miceStephane Dauger
the Institut National de la Santé et de la Recherche Médicale, Paris, France
Chest 123:530-8. 2003..To test the hypothesis that exposure to hyperoxia during the postnatal period of rapid alveolar multiplication by septation would cause permanent impairments, even with moderate levels of hyperoxia...
- Genes modulating chemical breathing control: lessons from mutant animalsClaude Gaultier
Laboratoire de Neurologie et Physiologie du Développement, INSERM E9935, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Respir Physiol Neurobiol 136:105-14. 2003....
- beta 2 nicotinic acetylcholine receptor subunit modulates protective responses to stress: A receptor basis for sleep-disordered breathing after nicotine exposureGary Cohen
Laboratoire de Neurologie et de Physiologie du Développement, Institut National de la Santé et de la Recherche Médicale E9935, Hopital Robert Debre, 75019 Paris, France
Proc Natl Acad Sci U S A 99:13272-7. 2002..We propose that nicotine impairs breathing (and possibly arousal) responses to stress by disrupting functions normally regulated by beta2-containing, high-affinity nAChRs...
- Ventilatory responses to hypercapnia and hypoxia in heterozygous c-ret newborn miceSophie Aizenfisz
Laboratoire de Neurologie et Physiologie du Développement, Hopital Robert Debre, 48 Boulevard Serurier, 75019, Paris, France
Respir Physiol Neurobiol 131:213-22. 2002..These results are further evidence that respiratory control at birth is heavily dependent on genes involved in the neural determination of neural crest cells...
- Inhaled NO prevents hyperoxia-induced white matter damage in neonatal ratsHoa Pham
INSERM, UMR 676, 75019 Paris, France Université Paris Diderot, UFR de Médecine Denis Diderot, Sorbonne Paris Cité, 75010 Paris, France PremUP Foundation, 75014 Paris, France
Exp Neurol 252:114-23. 2014..These findings suggest that iNO exposure at low doses is specifically neuroprotective in an animal model combining injuries of the developing lung and brain that mimicked BPD and WMD in preterm infants...
- Bench to cribside: the path for developing a neuroprotectantNelina Ramanantsoa
INSERM U676, Hopital Robert Debre, 48 Blvd Sérurier, 75019, Paris, France
Transl Stroke Res 4:258-77. 2013..We hope these new tools and an integrated bench to cribside strategic plan will facilitate the fulfillment of our overarching goal, improving the long-term brain health and quality of life for infants suffering perinatal brain injury. ..
- Development of respiratory control: evolving concepts and perspectivesClaude Gaultier
Service de Physiologie, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Respir Physiol Neurobiol 149:3-15. 2005....
- Olfactory classical conditioning in newborn miceMyriam Bouslama
INSERM U676, Robert Debre Teaching Hospital, 48 Boulevard Serurier, 75019 Paris, France
Behav Brain Res 161:102-6. 2005..This paradigm is well suited to phenotyping of large samples of genetically altered mice and may shed light on the role for genes in paediatric cognitive impairments...
- Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproductionRiyad El-Khoury
INSERM, UMR 676, Hopital Robert Debre, Paris, France
PLoS Genet 9:e1003182. 2013..Therefore, the MitAOX mice represent a valuable tool in order to investigate the ability of AOX to counteract the panoply of mitochondrial-inherited diseases originating from oxidative phosphorylation defects...
- A simple method for short-term controlled anesthesia in newborn miceEstelle Drobac
Developmental Neurology and Physiology Laboratory, INSERM E9935, Robert Debre Teaching Hospital, 48 Bd Serurier, 75019 Paris, France
Physiol Behav 82:279-83. 2004..g., rats). This method is well suited to behavioral or physiological phenotype studies in developing mice, in which noxious procedures must precede functional testing, making rapid recovery from anesthesia a key requirement...
- Hyperactivation of Alk induces neonatal lethality in knock-in AlkF1178L miceLucille Lopez-Delisle
INSERM U830, Paris, France
Oncotarget 5:2703-13. 2014..Overall, our data demonstrate that Alk activation above a critical threshold is not compatible with survival in mice, in agreement with the extremely severe phenotype of patients carrying aggressive de novo ALK germline mutations. ..
- Systemic inflammation disrupts the developmental program of white matterGeraldine Favrais
INSERM U676, Denis Diderot Faculty of Medicine, University of Paris 7, Paris, France
Ann Neurol 70:550-65. 2011..The goal of the present study was to test the hypothesis that moderate systemic inflammation is sufficient to alter white matter development...
- VGLUT3 (vesicular glutamate transporter type 3) contribution to the regulation of serotonergic transmission and anxietyBénédicte Amilhon
INSERM, U952, Université Pierre et Marie Curie UPMC, 75005 Paris, France
J Neurosci 30:2198-210. 2010..Furthermore, our results suggest that the loss of VGLUT3 expression leads to anxiety-associated behaviors and should be considered as a potential new target for the treatment of this disorder...
- Depression of hypoxic arousal response in adolescent mice following antenatal vasoactive intestinal polypeptide blockadeGary Cohen
Laboratoire de Neurologie et de Physiologie du Développement, INSERM E9935, Hopital Robert Debre, 75019 Paris, France
J Physiol 540:691-9. 2002..This may signal a general deficit in the way hypoxic distress is monitored and processed, and arousal initiated and sustained in these mice...