Cisvariants identified in F508del complex alleles modulate CFTR channel rescue by small molecules-Reference-Cited by-同舟云学术

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Cisvariants identified in F508del complex alleles modulate CFTR channel rescue by small molecules

Published:2018-01-16 Issue:4 Volume:39 Page:506-514
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Baatallah Nesrine¹²,Bitam Sara¹²,Martin Natacha³,Servel Nathalie¹²,Costes Bruno³⁴,Mekki Chadia⁵,Chevalier Benoit¹²,Pranke Iwona¹²,Simonin Juliette¹²,Girodon Emmanuelle¹⁶,Hoffmann Brice⁷,Mornon Jean-Paul⁷,Callebaut Isabelle⁷,Sermet-Gaudelus Isabelle¹²,Fanen Pascale³⁴⁵,Edelman Aleksander¹²,Hinzpeter Alexandre¹²^ORCID

Affiliation:

1. INSERM U1151, Institut Necker Enfants Malades; INEM; Paris France

2. Université Paris Descartes; Paris France

3. INSERM, U955, Institut de Recherche Henri Mondor; IMRB; Créteil France

4. Université Paris-Est; Créteil France

5. Department of Genetics; GH Henri Mondor; APHP; Créteil France

6. Laboratoire de Génétique et Biologie Moléculaires; HUPC Hôpital Cochin; AP-HP Paris France

7. CNRS UMR7590; Sorbonne Universités; Université Pierre et Marie Curie-Paris6-MNHN-IRD-IUC Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23389/fullpdf

Reference33 articles.

1. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level;Aissat;Human Mutations,2013

2. UMD-CFTR: A database dedicated to CF and CFTR-related disorders;Bareil;Human Mutations,2010

3. Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy;Birket;American Journal of Physiology-Lung Cellular and Molecular Physiology,2016

4. An unexpected effect of TNF-alpha on F508del-CFTR maturation and function;Bitam;F1000Research,2015

5. Potentiator ivacaftor abrogates pharmacological correction of DeltaF508 CFTR in cystic fibrosis;Cholon;Science Translation Medicine,2014

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1. Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids;Journal of Personalized Medicine;2024-01-23

2. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy;International Journal of Molecular Sciences;2023-12-21

3. Cystic fibrosis. Diagnosis and treatment;2023-09-22

4. VUS: Variant of uncertain significance or very unclear situation?;Molecular Genetics and Metabolism;2023-09

5. Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel;Genes;2023-08-28

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