Research Topics
Genomes and Genes | Claude GaultierSummaryCountry: France Publications
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Publications
[The genetics of sleep apnea syndromes]C Gaultier
Service de Physiologie, , 48, , 75019 Paris
Rev Mal Respir 23:7S109-7S112. 2006- 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... - [Genetics and respiratory control: studies in normal humans and genetically modified animals]C Gaultier
Service de Physiologie, Hopital Robert Debre, Paris, France
Rev Mal Respir 20:77-94. 2003.... - Genes and genetics in respiratory controlClaude Gaultier
Department of Physiology, INSERM 9935, Hôpital Robert, Faculté de Médecine Lariboisiere, Universite Paris VII, France
Paediatr Respir Rev 5:166-72. 2004..International multicentre studies would advance the area of respiratory control research... - Abnormalities of the chemical control of breathing: Clinical correlates in infants and childrenC Gaultier
Department of Physiology, Hĵpital Robert Debré, Faculte de Medecine, UNIVERSITE DE PARIS, France
Pediatr Pulmonol . 2001..Genetic influences, as well as environmental factors in utero or during early infancy, may contribute to abnormal chemical control of breathing during infancy and childhood... - Functional brain deficits in congenital central hypoventilation syndrome: commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500Claude Gaultier
INSERM U676, Service de Physiologie, , Paris, France
Pediatr Res 57:471-2. 2005 - 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... - Development of the control of breathing: implications for sleep-related breathing disorders in infantsC Gaultier
Service de Physiologie, INSERM CRI 9701, Hopital Robert Debre, Paris, France
Sleep 23:S136-9. 2000..In genetically-predisposed subjects, environmental conditions during the period of development of respiratory control mechanisms may add to the intrinsic vulnerability to SDB... - 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.... - [Respiratory tests in sleep disorders in children]C Gaultier
Service de Physiologie Explorations Fonctionnelles, Hopital Robert Debre, 75019 Paris
Rev Mal Respir 17:933-8. 2000..The prevalence of this syndrome in the general pediatric population would be 1.6%, increasing to 8.4% in members of a family with a child having obstructive sleep apnea syndrome... - 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.... - PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet
Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Département de génétique, Hopital Necker Enfants Malades, Paris, France
Am J Hum Genet 76:421-6. 2005..These data further highlight the link between congenital malformations and tumor predisposition when a master gene in development is mutated... - The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotypeHa Trang
Service de Physiologie, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Universite Paris 7, Paris, France
Chest 127:72-9. 2005..To analyze the main clinical features, genetic mutations, and outcomes of patients of the French Congenital Central Hypoventilation Syndrome (CCHS) Registry... - 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... - Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)Jeanne Amiel
Département de Génétique et INSERM U 393, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet A 117:18-20. 2003..The screening of the RNX gene in a series of 25 patients with CCHS did not reveal any significant nucleotide variation. We therefore conclude that RNX is not a major gene for CCHS in human... - Ventilatory control in newborn mice prenatally exposed to cocaineFanny Autret
, INSERM E9935, , 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... - Pulmonary function tests in preschool children with cystic fibrosisNicole Beydon
, Paris, France
Am J Respir Crit Care Med 166:1099-104. 2002..04). Genotype did not influence the data. We conclude that Rint(exp) and functional residual capacity measurements may help to follow young children with CF who are unable to perform reproducible forced expiratory maneuvers... - 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... - PHOX2B gene mutation in a patient with late-onset central hypoventilationHa Trang
Service de Physiologie, INSERM E 9935, Hopital Robert Debre, Universite Paris 7, Paris, France
Pediatr Pulmonol 38:349-51. 2004..This finding suggests that some of these cases may be genetically determined and allelic to congenital central hypoventilation syndrome... - Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2bN Ramanantsoa
INSERM U676, Hopital Robert Debre, Universite Paris, France
Am J Physiol Regul Integr Comp Physiol 290:R1691-6. 2006..Thus partial loss of Phox2b function by heterozygosity did not diminish the tonic drive from peripheral chemoreceptors... - Use of nasal cannula for detecting sleep apneas and hypopneas in infants and childrenHa Trang
Service de Physiologie, Hopital Robert Debre, Universite Paris VII, INSERM E9935, 48 Boulevard Serurier, 75019 Paris, France
Am J Respir Crit Care Med 166:464-8. 2002..quot; Thus, the NC is more likely than the thermistor to detect OA and OH in infants and children, and this superiority is particularly marked for hypopneas... - Transgenic models to study disorders of respiratory control in newborn miceClaude Gaultier
Service de Physiologie and INSERM U676, , 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... - Maturation of baseline breathing and of hypercapnic and hypoxic ventilatory responses in newborn miceS Renolleau
, , and Service de Physiologie, , 75019 Paris, France
Am J Physiol Regul Integr Comp Physiol 281:R1746-53. 2001..At all ages, hypoxic decline was ascribable mainly to a VT decrease, and posthypoxic decline was ascribable to a T(TOT) increase with apneas, suggesting different underlying neuronal mechanisms... - 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.... - Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)Loic de Pontual
Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
Hum Mol Genet 12:3173-80. 2003.... - [Methacholine challenge in young children: measurement of resistance by interruption]N Beydon
Service de Physiologie, Hopital, Robert Debré, Paris, France
Rev Mal Respir 22:959-66. 2005..Interrupter resistance increases significantly during bronchial provocation in responding young children and may be used to measure the degree of bronchoconstriction... - Inhibitory effects of repeated hyperoxia on breathing in newborn miceF Lofaso
INSERM U676, Service de Réanimation Pédiatrique, Hopital Robert Debre, Paris, France
Eur Respir J 29:18-24. 2007..This finding further supports a need for stringent control of oxygen therapy, most notably repeated oxygen administration in the neonatal period for premature newborn infants and those carried to term... - Control of breathing in newborn mice lacking the beta-2 nAChR subunitS Dauger
Laboratoire de Neurologie et Physiologie du Développement, INSERM E9935, Hopital Robert Debre, boulevard Serurier, Paris, France
Acta Physiol Scand 182:205-12. 2004..To study the ventilatory and arousal/defence responses to hypoxia in newborn mutant mice lacking the beta2 subunit of the nicotinic acetylcholine receptors... - Measurements of resistance by the interrupter technique and of transcutaneous partial pressure of oxygen in young children during methacholine challengeN Beydon
Service de Physiologie, Hopital Robert Debre, Universite Paris VII, 48 Bd Serurier, 75019 Paris, France
Pediatr Pulmonol 31:238-46. 2001..We conclude that: 1) M challenge using P(tc)O2 is safe in young children; and 2) our findings are not in favor of the use of Rint as the only indicator of bronchial reaction in young children during M challenge... - Maternal protein restriction early in rat pregnancy alters brain development in the progenyP Gressens
Laboratoire de Neurobiologie et de Physiologie du developpement, INSERM CRI 96 03, Hopital Robert Debre, Paris, France
Brain Res Dev Brain Res 103:21-35. 1997..However, the almost complete normalization in adults of brain architecture and differentiation as well as our physiological data strongly suggest a remarkable plasticity of the developing brain following an early aggression... - Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1S Renolleau
Laboratoire de Neurologie et Physiologie du Développement and Service de Physiologie, Hopital Robert Debre, Paris, France
Pediatr Res 49:705-12. 2001..No differences were observed between adult ECE-1+/- and ECE-1+/+ mice. We conclude that ECE-1 is required for normal ventilatory response to hypoxia at birth... - MASH-1/RET pathway involvement in development of brain stem control of respiratory frequency in newborn miceS Dauger
Laboratoire de Neurologie et Physiologie du Développement, Institut National de la Santé et de la Recherche Médicale E9935, Service de pédiatrie réanimation, Hopital Robert Debre, Service de Physiologie, Hopital Robert Debre, 75019 Paris, France
Physiol Genomics 7:149-57. 2001..022) and were weakly correlated with c-RET transcript levels (P = 0.032). Taken together, these results provide evidence that MASH-1 is upstream of c-RET in noradrenergic brain stem neurons important for respiratory rhythm modulation... - Sleep organization is unaffected by caffeine in premature infantsLilia Curzi-Dascalova
INSERM, EPI9935, Service de Physiologie, , , Paris, France
J Pediatr 140:766-71. 2002..We found no significant differences between the controls and the infants receiving maintenance caffeine... - Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult miceS Dauger
Laboratoire de Neurologie et Physiologie du Développement, INSERM E9935, Hopital Robert Debre, Paris, France
Pediatr Res 46:535-42. 1999..No differences were observed between adult Mash-1+/- and Mash-1+/+ mice. Our data suggest that Mash-1 may be involved in respiratory control development via mechanisms linked to the X chromosome... - Abnormal esophageal motility in children with congenital central hypoventilation syndromeChristophe Faure
Services de Gastroenterologie et de Physiologie, Hopital Robert Debre, Universite Paris VII, Paris, France
Gastroenterology 122:1258-63. 2002..Because swallowing-induced peristalsis is centrally controlled and depends on neural crest-derived esophageal innervation, we looked for esophageal dysmotility in patients with congenital central hypoventilation syndrome... - Arousal response to hypoxia in newborn miceS Dauger
, , , 75019, Paris, France
Respir Physiol 128:235-40. 2001..We conclude that arousal may contribute to the hypoxic ventilatory response in the early postnatal period in mice and that it should be taken into consideration in studies of ventilatory control maturation in newborns... - [Respiratory behavior]J Gallego
Laboratoire de Neurologie et Physiologie du Développement INSERM E9935, Hopital Robert Debre, Paris
Rev Mal Respir 17:41-9. 2000..Finally, recent studies in humans and animals show that classical conditioning affects respiratory control and sensations... - Peripheral chemoreceptor activity in sleeping neonates exposed to warm environmentsK Chardon
Laboratoire d environnement toxique périnatal et adaptations physiologiques et comportementales, EA 2088, Faculte de Medecine, 3, rue des Louvels, 80036 Amiens Cedex, France
Neurophysiol Clin 33:196-202. 2003..Since hypothalamic structures are involved in thermoregulatory, sleep processes and (probably) in respiratory control, it could well be the principal site where this interaction occurs... - Automatic classification of activity and apneas using whole body plethysmography in newborn miceB Matrot
, INSERM-E9935, , , 75010 Paris, France
J Appl Physiol 98:365-70. 2005.... - Intermittent hypoxia induces transient arousal delay in newborn miceE Durand
, INSERM-E9935, , Paris, France
J Appl Physiol 96:1216-22; discussion 1196. 2004..We conclude that IH rapidly and reversibly depressed breathing and delayed arousal in newborn mice. Both effects may be due to hypoxia-induced release of inhibitory neurotransmitters acting concomitantly on both functions... - [Obstructive sleep apnea syndrome and genetics]C Gaultier
Service de Physiologie, INSERM E9835, ,
Rev Neurol (Paris) 159:6S98-101. 2003..Two approaches have recently been used to investigate the genetics of OSA: a segregation analysis and a whole genome scan. Data suggested a common causal pathway regulating both OSA and obesity in Caucasian families... - Pre/postbronchodilator interrupter resistance values in healthy young childrenNicole Beydon
Physiology Department, Robert Debre Teaching Hospital, Paris, France
Am J Respir Crit Care Med 165:1388-94. 2002..Sex did not affect pre- or postbronchodilator values. Data from the present study may prove useful for testing lung function in young children with respiratory disorders who failed to cooperate with forced expiratory maneuvers... - 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... - Noninvitation of eligible individuals to participate in pediatric studies: a qualitative studyPhilippe Amiel
Institut Gustave Roussy, Villejuif, Unité de Recherche en Sciences Humaines et Sociales, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France
Arch Pediatr Adolesc Med 161:446-50. 2007..To identify subjective factors that lead investigators not to invite eligible individuals to participate in pediatric studies... - Classical conditioning of breathing pattern after two acquisition trials in 2-day-old miceE Durand
, INSERM E9935, , 75019 Paris, France
J Appl Physiol 94:812-8. 2003..Our results confirm the sensitivity of breathing to conditioning and indirectly support the hypothesis that learned feedforward processes may complement feedback pathways during postnatal maturation of respiratory control... - Patterns of EEG frequency, movement, heart rate, and oxygenation after isolated short apneas in infantsM F Vecchierini
Service de Physiologie, Hopital Bichaty, , , France
Pediatr Res 49:220-6. 2001..We conclude that 1) at termination of isolated apneas in infants, a motor event was rare, whereas an EEG frequency increase was common; 2) event patterns at apnea termination differed from those at control period termination... - Neural control of breathing: insights from genetic mouse modelsC Gaultier
Service de Physiologie, Hopital Robert Debre, 48 Boulevard Serurier, Paris, France
J Appl Physiol 104:1522-30. 2008..The development of mouse models has opened up the field of research into new treatments for respiratory-control disorders in humans... - Pulmonary function tests in preschool children with asthmaNicole Beydon
, Grenoble, France
Am J Respir Crit Care Med 168:640-4. 2003..Pulmonary function tests that do not require active cooperation may help in the management and follow-up of preschool children with asthma who are unable to perform forced expiratory maneuvers... - Effects of warm and cool thermal conditions on ventilatory responses to hyperoxic test in neonatesKaren Chardon
Environnement Toxique Périnatal et Adaptations Physiologiques et Comportementales EA2088, School of Medicine, 3 rue des Louvels, Amiens 80036, France
Respir Physiol Neurobiol 140:145-53. 2004.... - Comparison of the hyperoxic test and the alternate breath test in infantsBelkacem Bouferrache
Unite de Recherches sur les Adaptations Physiologiques et Comportementales EA 2088, School of Medicine, Amiens, France
Am J Respir Crit Care Med 165:206-10. 2002.... - Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeJeanne Amiel
Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
Nat Genet 33:459-61. 2003..Our data support an essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the ANS in humans... - PHOX2B germline and somatic mutations in late-onset central hypoventilation syndromeDelphine Trochet
Département de génétique, Hôpital Necker Enfants Malades 149, rue de Sevres, 75743 Paris Cedex 15, France
Am J Respir Crit Care Med 177:906-11. 2008..The potential overlap of LO-CHS with congenital CHS is under debate, even though both disorders can result from heterozygous PHOX2B gene mutations... - Statement on the care of the child with chronic lung disease of infancy and childhoodJulian Allen
Am J Respir Crit Care Med 168:356-96. 2003 - An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool childrenNicole Beydon
Am J Respir Crit Care Med 175:1304-45. 2007