Genomes and Genes
- [Challenges of personalized medicine for cystic fibrosis]H Corvol
Service de pneumologie pédiatrique, Centre de Ressources et de Compétences pour la Mucoviscidose, Centre de reference des maladies respiratoires rares, Hopital Trousseau, AP HP, 26, avenue du Dr Netter, 75012 Paris, France Unité Inserm U938, Centre de Recherche Saint Antoine, 34, Rue Crozatier, 75012 Paris, France Université Pierre et Marie Curie Paris 6, 4, place Jussieu, 75005 Paris, France Electronic address
Arch Pediatr 22:778-86. 2015..The various challenges of personalized medicine applied to cystic fibrosis issues are discussed in this paper. ..
- [Why use long-term macrolide therapy in pediatric pulmonology?]H Corvol
Service de pneumologie pédiatrique, Hopital Trousseau, AP HP, Centre de Ressources et de Compétences pour la Mucoviscidose, Centre de reference des maladies respiratoires rares, Universite Pierre et Marie Curie Paris 6, unité Inserm U938, 26, avenue du Dr Netter, 75012 Paris, France Electronic address
Arch Pediatr 21:314-21. 2014..It also provides new insights on the potential effects of macrolides on diffuse parenchymal lung diseases. ..
- New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(®) cohortJessica Taytard
Pediatric Pulmonary Department, AP HP, Hopital Trousseau, Universite Pierre et Marie Curie PARIS6, Inserm U938, 26, avenue du Docteur Arnold Netter, 75012 Paris, France
Orphanet J Rare Dis 8:161. 2013..We present the French pediatric cohort of IPH collected through the French Reference Center for Rare Lung Diseases (RespiRare®, http://www.respirare.fr)...
- Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patientsHarriet Corvol
AP HP, Hopital Trousseau, Pediatric Pulmonary Department, Inserm U938, Paris, France
J Cyst Fibros 11:63-7. 2012..As inflammation is a key component inducing CF lung damage, we investigated whether the 8.1AH represents a lung function modifier in CF...
- Longitudinal survey of Staphylococcus aureus in cystic fibrosis patients using a multiple-locus variable-number of tandem-repeats analysis methodHoang Vu-Thien
Universite Paris Sud 11, CNRS, UMR 8621, Institut de Genetique et Microbiologie, Orsay 91405, France
BMC Microbiol 10:24. 2010..Multiple-locus variable-number tandem repeat analysis (MLVA/VNTR) was used to survey S. aureus clinical isolates in a French paediatric CF centre...
- Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthmaHarriet Corvol
Department of Biopharmaceutical Sciences, University of California, San Francisco, California, USA
Pharmacogenet Genomics 19:489-96. 2009..Therefore, we reasoned that interactions between the IL6 and IL6R genes might be associated with bronchodilator drug responsiveness to albuterol in asthmatic patients...
- Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosisHarriet Corvol
AP HP, Hopital Trousseau, Pediatric Pulmonary Department, Paris, France
Pediatr Pulmonol 43:1224-32. 2008..These findings support the concept that TGFB1 gene variants appear to be important genetic modifiers of lung disease progression in CF...
- Pharmacogenetic response to albuterol among asthmaticsHarriet Corvol
UCSF Lung Biology Center, University of California, San Francisco, CA 94143 2911, USA
Pharmacogenomics 9:505-10. 2008..Herein, we focus on pharmacogenetic associations between genetic variants in the beta(2)-adrenergic receptor gene and bronchodilator response to albuterol among subjects with asthma...
- Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosisHarriet Corvol
Universite Pierre et Marie Curie PARIS6, Paris, 75571 France
Respir Res 8:88. 2007....
- AGER -429T/C is associated with an increased lung disease severity in cystic fibrosisJulie Beucher
AP HP, Hopital Trousseau, Pediatric Pulmonary Department, Inserm U938, Paris, France
PLoS ONE 7:e41913. 2012..The functional promoter AGER -429C variant is associated with an increased RAGE expression that can lead to an increased lung inflammation and a more severe lung disease...
- Influence of interleukin-10 on Aspergillus fumigatus infection in patients with cystic fibrosisJacques Brouard
Inserm E213, Armand Trousseau Hospital, Paris, and the Department of Pediatrics, Georges Clemenceau Hospital, Caen, France
J Infect Dis 191:1988-91. 2005..fumigatus. These results suggest that polymorphisms in the promoter region of the IL-10 gene may influence the host response to A. fumigatus in the context of CF...
- Distinct cytokine production by lung and blood neutrophils from children with cystic fibrosisHarriet Corvol
Departement de Pneumologie Pediatrique Institut National de la Santé et de la Recherche Médicale E213, Hopital Armand Trousseau, 75012 Paris, France
Am J Physiol Lung Cell Mol Physiol 284:L997-1003. 2003..They provide support to the hypothesis that not only the CF genotype but also the local environment may modify the functional properties of the neutrophils...
- Neutrophils in cystic fibrosis display a distinct gene expression patternMinou Adib-Conquy
Unit Cytokines and Inflammation, Institut Pasteur, Paris, France
Mol Med 14:36-44. 2008..Altogether, this study clearly demonstrates that blood PMNs from CF patients display a profound modification of gene expression profile associated with the disease, suggesting a state of activation of these cells...
- Macrolides: new therapeutic perspectives in lung diseasesLoic Guillot
Inserm U938, Paris F 75012, France
Int J Biochem Cell Biol 43:1241-6. 2011..It also discusses novel findings which suggest that macrolides may contribute to alveolar surfactant homeostasis...
- Interstitial lung diseases in childrenAnnick Clement
Pediatric Pulmonary Department, Reference Center for Rare Lung Diseases, AP HP, Hopital Trousseau, INSERM UMR S 938, Universite Pierre et Marie Curie Paris 6, Paris, F 75012 France
Orphanet J Rare Dis 5:22. 2010..An overall favorable response to corticosteroid therapy is observed in around 50% of cases, often associated with sequelae such as limited exercise tolerance or the need for long-term oxygen therapy...
- Lung sarcoidosis in children: update on disease expression and managementNadia Nathan
Pediatric Pulmonary Department, AP HP, Hopital Trousseau, Paris, France Université Pierre et Marie Curie Paris6, Paris, France UMR S U933, INSERM, Paris, France
Thorax 70:537-42. 2015..Sarcoidosis is a rare lung disease in children. The aim of the present study was to provide update information on disease presentation and progression, patient management and prognosis factors in a cohort of children with lung sarcoidosis...
- Lung disease modifier genes in cystic fibrosisLoic Guillot
INSERM, UMR_S 938, CDR Saint Antonie, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint Antonie, Paris, France Electronic address
Int J Biochem Cell Biol 52:83-93. 2014..e. the candidate gene approach; (2) a "without a priori" approach, analyzing the whole genome by linkage and genome-wide association studies (GWAS), or the whole exome by exome sequencing...
- A national internet-linked based database for pediatric interstitial lung diseases: the French networkNadia Nathan
AP HP, Hopital Trousseau, Pediatric Pulmonary Department, Paris, France
Orphanet J Rare Dis 7:40. 2012..After the launch of the French Reference Centre for Rare Lung Diseases (RespiRare®), we created a national network and a web-linked database to collect data on pediatric ILD...
- Multiple-locus variable-number tandem-repeat analysis for longitudinal survey of sources of Pseudomonas aeruginosa infection in cystic fibrosis patientsHoang Vu-Thien
Bacteriologie, Hopital Armand Trousseau, INSERM URM S 719, Paris, France
J Clin Microbiol 45:3175-83. 2007..aeruginosa infection. The resulting data and strain genetic profiles can be queried on http://bacterial-genotyping.igmors.u-psud.fr...
- Ultrasonography and Computed Tomographic Manifestations of Abdominal Sarcoidosis in ChildrenBaptiste Morel
Universite Pierre et Marie Curie Paris 6, Sorbonne Universités Assistance Publique Hôpitaux de Paris AP HP, Hopital A Trousseau, Service de Radiologie Pediatrique, Paris INSERM U955, Equipe 5, Faculte de Medecine, Créteil Centre Hospitalier Intercommunal de Créteil, Creteil, Centre de Référence des Maladies Respiratoires Rares Assistance Publique Hôpitaux de Paris AP HP, Service de pneumologie pédiatrique, Hopital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares Institut National de la Santé et la Recherche Médicale INSERM, UMR_S 933 Institut National de la Santé et la Recherche Médicale INSERM, UMR_S 938, CdR Saint Antoine, Universite Pierre et Marie Curie Paris 6, Sorbonne Universités AP HP, Hopital Armand Trousseau, Service de nutrition et gastroentérologie pédiatriques, Paris, France
J Pediatr Gastroenterol Nutr 63:195-9. 2016..The present study describes the frequency and the appearance of abdominal radiologic manifestations in pediatric patients with histologically proven sarcoidosis...
- Long-term effects of azithromycin in patients with cystic fibrosisClémentine Samson
AP HP, Hopital Trousseau, Pediatric Pulmonology Department, Paris, France Besançon Hospital, Pediatric Department, Besancon, France
Respir Med 117:1-6. 2016..The aim of this retrospective study was to investigate the effects of low-dose azithromycin treatment on the progression of CF lung disease in patients treated for more than 12 months...
- New insights about miRNAs in cystic fibrosisFlorence Sonneville
INSERM UMR_S938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC University Paris 06, Paris, France
Am J Pathol 185:897-908. 2015..The identification of miRNAs involved in CF disease progression opens up new avenues toward treatments targeting selected clinical components of CF, independently from the CFTR mutation...
- Normal and Cystic Fibrosis Human Bronchial Epithelial Cells Infected with Pseudomonas aeruginosa Exhibit Distinct Gene Activation PatternsViviane Balloy
INSERM, UMR_S 938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris, France
PLoS ONE 10:e0140979. 2015..aeruginosa infection. Compared to noninfected cells, infected cells showed changes in gene activity, which were most marked 6 h postinfection and usually consisted in upregulation...
- Lessons from a French collaborative case-control study in cystic fibrosis patients during the 2009 A/H1N1 influenza pandemyJulie Bucher
Hopital Necker Enfants Malades, Paris, France
BMC Infect Dis 16:55. 2016..However, the real morbidity of the influenza virus in CF needs to be further investigated because previous studies were only observational...
- Anoctamin 1 dysregulation alters bronchial epithelial repair in cystic fibrosisManon Ruffin
INSERM, U938, 34 rue Crozatier, 75012 Paris, France UPMC, University of Paris 06, 4 place Jussieu, 75005 Paris, France
Biochim Biophys Acta 1832:2340-51. 2013..In summary, our study demonstrates involvement of ANO1 decreased activity and expression in abnormal CF airway epithelial repair and suggests that ANO1 correction may improve this process. ..
- Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosisPierre Yves Boelle
AP HP, Hôpital Trousseau Pediatric Pulmonary Department, Hopital St Antoine Public Health Department, Paris, France
Orphanet J Rare Dis 7:64. 2012..Here, we used a large database of European CF patients to compute CF specific reference equations for FEV(1) and BMI, derived CF-specific percentile charts and compared these European data to their nearest international equivalents...
- Surfactant protein A: A key player in lung homeostasisNadia Nathan
Service de pneumologie pédiatrique, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris 75012, France Inserm UMRS933, Universite Pierre et Marie Curie Paris 6, Sorbonne Universités, Paris 75012, France Electronic address
Int J Biochem Cell Biol 81:151-155. 2016..New information on SP-A deficiency in various forms of pulmonary diseases could help define therapeutic strategies aimed at restoring functional SP-A within the alveolar structure...
- Translating the genetics of cystic fibrosis to personalized medicineHarriet Corvol
INSERM, UMR_S 938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC University Paris 06, UMR_S 938, CdR Saint Antoine, Paris, France Pneumologie pédiatrique, APHP, Hopital Trousseau, Paris, France
Transl Res 168:40-9. 2016..The various current and future challenges of personalized medicine as they apply to the issues faced in CF are discussed in this review. ..
- Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosisHarriet Corvol
Assistance Publique Hopitaux de Paris AP HP, Hopital Trousseau, Pediatric Pulmonary Department Institut National de la Santé et la Recherche Médicale INSERM U938, Paris 75012, France
Nat Commun 6:8382. 2015..The fifth locus, on chr11p12-p13 (EHF/APIP; P=1.9 × 10(-10)), was previously shown to be associated with lung disease. These results provide new insights into potential targets for modulating lung disease severity in CF. ..
- HRCT and MRI of the lung in children with cystic fibrosis: comparison of different scoring systemsChiara Sileo
AP HP, Hopital Trousseau, Pediatric Radiology Department, Paris, France Université Pierre et Marie Curie Paris 6, Paris, France
J Cyst Fibros 13:198-204. 2014....
- Lung alveolar epithelium and interstitial lung diseaseHarriet Corvol
INSERM, UMR S U938, Paris, France
Int J Biochem Cell Biol 41:1643-51. 2009..The mechanisms underlying disease progression are discussed, with a main focus on the apoptotic pathway, the endoplasmic reticulum stress response and the developmental pathway...
- Pulmonary sarcoid-like granulomatous disease in an 11-month-old girlNadia Nathan
Department of Pediatric Pulmunology INSERM UMR S 938, AP HP Hôpital Armand Trousseau, Paris, France
BMJ Case Rep 2013:. 2013..We report an 11-month-old girl with granulomatous disease restricted to the lungs consistent with sarcoidosis. This unusual presentation has never been described in the paediatric literature so far...
- Flagellin concentrations in expectorations from cystic fibrosis patientsViviane Balloy
Unité de Défense Innée et Inflammation, Institut Pasteur, Paris, France
BMC Pulm Med 14:100. 2014..The aim was to measure flagellin concentrations in the expectorations of CF patients and to examine whether there are correlations with the level of respiratory insufficiency and inflammation...
- Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases?Harriet Corvol
INSERM, UMR_S 938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris, France Pneumologie pédiatrique, APHP, Hopital Trousseau, Paris, France
J Med Genet 51:646-9. 2014..Further interpretations of FAM13A variants may help in the understanding of CLD mechanisms and reveal opportunity for intervention. ..
- Evaluation of the trachea and intrathoracic airways by the acoustic reflection method in children with cystic fibrosisNicolas Leboulanger
UPMC University Paris 06, France
Respir Physiol Neurobiol 181:74-8. 2012..37, p=0.04). The tracheal cross-sectional area measured by the ARM is normal in children with CF but the increase in Raw during FE suggests an increase in intrathoracic airway distensibility...
- Circulating and airway neutrophils in cystic fibrosis display different TLR expression and responsiveness to interleukin-10Anne France Petit-Bertron
Unit Cytokines and Inflammation, Institut Pasteur, 28 rue Dr Roux, 75015 Paris, France
Cytokine 41:54-60. 2008....