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CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPD
Lucie Knabe
,
Jessica Varilh
,
Anne Bergougnoux
,
Anne-Sophie Gamez
,
Jennifer Bonini
,
et al.
Article dans une revue
hal-01800171v1
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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.
Article dans une revue
hal-02444117v1
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
Magali Taulan
,
Anne Girardet
,
Caroline Guittard
,
Jean-Pierre Altieri
,
Carine Templin
,
et al.
Article dans une revue
inserm-00305450v1
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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.
Article dans une revue
hal-02400710v1
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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
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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
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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
Article dans une revue
istex
hal-02444161v1
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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.
Article dans une revue
istex
hal-02441699v1
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Current and future molecular approaches in the diagnosis of cystic fibrosis
Anne Bergougnoux
,
Magali Taulan-Cadars
,
Mireille Claustres
,
Caroline Raynal
Article dans une revue
hal-02327010v1
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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.
Article dans une revue
hal-02443306v1
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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.
Article dans une revue
hal-01792956v1
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Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward
Aurelie Hatton
,
Anne Bergougnoux
,
Katarzyna Zybert
,
Benoit Chevalier
,
Myriam Mesbahi
,
et al.
Article dans une revue
hal-03503341v1
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Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure.
Magali Taulan
,
F. Paquet
,
A. Argiles
,
J. Demaille
,
Mc Romey
Article dans une revue
hal-00069847v1
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Renal toxicogenomic response to chronic uranyl nitrate insult in mice
Magali Taulan
,
F. Paquet
,
C. Maubert
,
O. Delissen
,
J. Demaille
,
et al.
Article dans une revue
hal-03048060v1
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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.
Article dans une revue
hal-03650073v1
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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.
Article dans une revue
hal-02441706v1
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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.
Article dans une revue
hal-01761880v1
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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.
Article dans une revue
hal-01770444v1
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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.
Article dans une revue
hal-03176502v1
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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.
Article dans une revue
hal-03913493v1
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Should diffuse bronchiectasis still be considered a CFTR-related disorder?
Anne Bergougnoux
,
Victoria Viart
,
Julie Miro
,
Sebastien Bommart
,
Nicolas Molinari
,
et al.
Article dans une revue
hal-01756804v1
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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.
Article dans une revue
hal-00014262v1
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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.
Article dans une revue
istex
hal-00579021v1
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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
Article dans une revue
hal-00671231v1
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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.
Article dans une revue
inserm-00305437v1
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Cohen syndrome is associated with major glycosylation defects
Laurence Duplomb
,
Sandrine Duvet
,
Damien Picot
,
Gaetan Jego
,
Salima El Chehadeh-Djebbar
,
et al.
Article dans une revue
hal-01687667v1
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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.
Article dans une revue
hal-02547886v1
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Splicing mutations in the CFTR gene as therapeutic targets
Karine Deletang
,
Magali Taulan
Article dans une revue
hal-03686178v1
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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.
Article dans une revue
hal-01789377v1
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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.
Article dans une revue
hal-02434833v1
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