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30 résultats

	Pour les 30 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPD Lucie Knabe , Jessica Varilh , Anne Bergougnoux , Anne-Sophie Gamez , Jennifer Bonini , et al. American Journal of Physiology - Lung Cellular and Molecular Physiology, 2016, 311 (4), pp.L696 - L703. ⟨10.1152/ajplung.00280.2016⟩ Article dans une revue hal-01800171v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle Anne-Laure Bouge , Eva Murauer , Emmanuelle Beyne , Julie Miro , Jessica Varilh , et al. Scientific Reports, 2017, 7, pp.39094. ⟨10.1038/srep39094⟩ Article dans une revue hal-01792956v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward Aurelie Hatton , Anne Bergougnoux , Katarzyna Zybert , Benoit Chevalier , Myriam Mesbahi , et al. Journal of Cystic Fibrosis, 2021, ⟨10.1016/j.jcf.2021.12.010⟩ Article dans une revue hal-03503341v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure. Magali Taulan , F. Paquet , A. Argiles , J. Demaille , Mc Romey BMC Genomics, 2006, 7, pp.2. ⟨10.1186/1471-2164-7-2⟩ Article dans une revue hal-00069847v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene Magali Taulan , Victoria Viart , Corinne Thèze , Caroline Guittard , Jean-Pierre Altieri , et al. Gene, 2012, 500 (2), pp.194-198. ⟨10.1016/j.gene.2012.03.043⟩ Article dans une revue hal-02444117v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene A. Bergougnoux , Karine Délétang , A. Pommier , J. Varilh , F. Houriez , et al. Journal of Cystic Fibrosis, 2019, 18 (4), pp.468-475. ⟨10.1016/j.jcf.2018.10.012⟩ Article dans une revue hal-02400710v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Large genomic rearrangements in the CFTR gene contribute to CBAVD. Magali Taulan , Anne Girardet , Caroline Guittard , Jean-Pierre Altieri , Carine Templin , et al. BMC Medical Genetics, 2007, 8, pp.22. ⟨10.1186/1471-2350-8-22⟩ Article dans une revue inserm-00305450v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Role of Non-coding RNAs in Cystic Fibrosis Jessica Varilh , Jennifer Bonini , Magali Taulan-Cadars Cystic Fibrosis in the Light of New Research, InTech, 2015, ⟨10.5772/60449⟩ Chapitre d'ouvrage hal-02434931v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New Molecular Diagnosis Approaches — From the Identification of Mutations to their Characterization Anne Bergougnoux , Magali Taulan-Cadars , Mireille Claustres , Caroline Raynal Cystic Fibrosis in the Light of New Research, InTech, 2015, ⟨10.5772/60679⟩ Chapitre d'ouvrage hal-02434957v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene Caroline Raynal , David Baux , Corinne Thèze , Corinne Bareil , Magali Taulan , et al. Human Mutation, 2013, 34 (5), pp.774-784. ⟨10.1002/humu.22291⟩ Article dans une revue istex hal-02441699v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Current and future molecular approaches in the diagnosis of cystic fibrosis Anne Bergougnoux , Magali Taulan-Cadars , Mireille Claustres , Caroline Raynal Expert Review of Respiratory Medicine, 2018, 12 (5), pp.415-426. ⟨10.1080/17476348.2018.1457438⟩ Article dans une revue hal-02327010v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site Muriel Giansily-Blaizot , Estelle Lopez , Victoria Viart , Ouerdia Chafa , Jacqueline Tapon-Bretaudière , et al. Thrombosis and Haemostasis, 2017, 108 (08), pp.277-283. ⟨10.1160/TH11-09-0638⟩ Article dans une revue hal-02443306v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription Céline René , Estelle Lopez , Mireille Claustres , Magali Taulan , Marie-Catherine Romey-Chatelain Cellular and Molecular Life Sciences, 2010, 67 (13), pp.2297-2309. ⟨10.1007/s00018-010-0336-4⟩ Article dans une revue istex hal-02444161v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Renal toxicogenomic response to chronic uranyl nitrate insult in mice Magali Taulan , F. Paquet , C. Maubert , O. Delissen , J. Demaille , et al. Environmental Health Perspectives, 2004, 112 (16), pp.1628-1635. ⟨10.1289/txg.7296⟩ Article dans une revue hal-03048060v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis Victoria Viart , Anne Bergougnoux , Jennifer Bonini , Jessica Varilh , Raphaël Chiron , et al. European Respiratory Journal, 2014, 45 (1), pp.116 - 128. ⟨10.1183/09031936.00113214⟩ Article dans une revue hal-01770444v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exon identity influences splicing induced by exonic variants and in silico prediction efficacy Natacha Martin , Anne Bergougnoux , Nesrine Baatallah , Benoit Chevalier , Jessica Varilh , et al. Journal of Cystic Fibrosis, 2020, 20, ⟨10.1016/j.jcf.2020.12.003⟩ Article dans une revue hal-03176502v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phosphorylated C/EBPβ Influences a Complex Network Involving YY1 and USF2 in Lung Epithelial Cells Victoria Viart , Jessica Varilh , Estelle Lopez , Céline René , Mireille Claustres , et al. PLoS ONE, 2013, 8 (4), pp.e60211. ⟨10.1371/journal.pone.0060211⟩ Article dans une revue hal-02441706v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The HDAC inhibitor SAHA does not rescue CFTR membrane expression in Cystic Fibrosis Anne Bergougnoux , Aurélie Petit , Lucie Knabe , Estelle Bribes , Raphaël Chiron , et al. International Journal of Biochemistry and Cell Biology, 2017, 88, pp.124-132. ⟨10.1016/j.biocel.2017.05.002⟩ Article dans une revue hal-01761880v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy Anne Bergougnoux , A. Billet , C. Ka , M. Heller , F. Degrugillier , et al. Journal of Cystic Fibrosis, 2022, ⟨10.1016/j.jcf.2022.12.003⟩ Article dans une revue hal-03913493v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Highway to Cell: Selection of the Best Cell-Penetrating Peptide to Internalize the CFTR-Stabilizing iCAL36 Peptide Quentin Seisel , Israpong Lakumpa , Emilie Josse , Eric Vivès , Jessica Varilh , et al. Pharmaceutics, 2022, 14 (4), pp.808. ⟨10.3390/pharmaceutics14040808⟩ Article dans une revue hal-03650073v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Should diffuse bronchiectasis still be considered a CFTR-related disorder? Anne Bergougnoux , Victoria Viart , Julie Miro , Sebastien Bommart , Nicolas Molinari , et al. Journal of Cystic Fibrosis, 2015, 14 (5), pp.646 - 653. ⟨10.1016/j.jcf.2015.02.012⟩ Article dans une revue hal-01756804v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Binding of Serum Response Factor to Cystic Fibrosis Transmembrane Conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulator pathway Céline René , Florence Iral , Magali Taulan , Julien Doudement , Aurore L'Honoré , et al. Nucleic Acids Research, 2005, 33 (16), pp.5271-5290. ⟨10.1093/nar/gki837⟩ Article dans une revue hal-00014262v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Variants in CFTR untranslated regions are associated with Congenital Bilateral Absence of the Vas Deferens Estelle Lopez , Victoria Viart , Caroline Guittard , Carine Templin , Céline René , et al. Journal of Medical Genetics, 2010, 48 (3), pp.152. ⟨10.1136/jmg.2010.081851⟩ Article dans une revue istex hal-00579021v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation Victoria Viart , Marie Des Georges , Mireille Claustres , Magali Taulan European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.161⟩ Article dans une revue hal-00671231v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding. Magali Taulan , Estelle Lopez , Caroline Guittard , Céline René , David Baux , et al. Biochemical and Biophysical Research Communications, 2007, 361 (3), pp.775-81. ⟨10.1016/j.bbrc.2007.07.091⟩ Article dans une revue inserm-00305437v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis Jennifer Bonini , Jessica Varilh , Caroline Raynal , Corinne Thèze , Emmanuelle Beyne , et al. Genetics in Medicine, 2015, 17 (10), pp.796-806. ⟨10.1038/gim.2014.194⟩ Article dans une revue hal-02434833v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders Souphatta Sasorith , David Baux , Anne Bergougnoux , Damien Paulet , Alan Lahure , et al. Human Mutation, 2019, 41 (2), pp.375-386. ⟨10.1002/humu.23941⟩ Article dans une revue hal-02547886v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Splicing mutations in the CFTR gene as therapeutic targets Karine Deletang , Magali Taulan Gene Therapy, In press, ⟨10.1038/s41434-022-00347-0⟩ Article dans une revue hal-03686178v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cohen syndrome is associated with major glycosylation defects Laurence Duplomb , Sandrine Duvet , Damien Picot , Gaetan Jego , Salima El Chehadeh-Djebbar , et al. Human Molecular Genetics, 2014, 23 (9), pp.2391 - 2399. ⟨10.1093/hmg/ddt630⟩ Article dans une revue hal-01687667v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes Ange-Line Bruel , Brunella Franco , Yannis Duffourd , Julien Thévenon , Laurence Jego , et al. Journal of Medical Genetics, 2017, 54 (6), pp.371 - 380. ⟨10.1136/jmedgenet-2016-104436⟩ Article dans une revue hal-01789377v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPD

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure.

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Role of Non-coding RNAs in Cystic Fibrosis

New Molecular Diagnosis Approaches — From the Identification of Mutations to their Characterization

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Current and future molecular approaches in the diagnosis of cystic fibrosis

Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site

NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription

Renal toxicogenomic response to chronic uranyl nitrate insult in mice

Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis

Exon identity influences splicing induced by exonic variants and in silico prediction efficacy

Phosphorylated C/EBPβ Influences a Complex Network Involving YY1 and USF2 in Lung Epithelial Cells

The HDAC inhibitor SAHA does not rescue CFTR membrane expression in Cystic Fibrosis

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Highway to Cell: Selection of the Best Cell-Penetrating Peptide to Internalize the CFTR-Stabilizing iCAL36 Peptide

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Binding of Serum Response Factor to Cystic Fibrosis Transmembrane Conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulator pathway

Variants in CFTR untranslated regions are associated with Congenital Bilateral Absence of the Vas Deferens

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Splicing mutations in the CFTR gene as therapeutic targets

Cohen syndrome is associated with major glycosylation defects

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes