Characterization of SLC26A9 in Patients with CF-Like Lung Disease-Reference-Cited by-同舟云学术

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Characterization of SLC26A9 in Patients with CF-Like Lung Disease

Published:2013-08-13 Issue:10 Volume:34 Page:1404-1414
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bakouh Naziha,Bienvenu Thierry,Thomas Annick¹,Ehrenfeld Jordi²,Liote Huguette³,Roussel Delphine⁴,Duquesnoy Philippe⁵,Farman Nicolette⁶,Viel Marion,Cherif-Zahar Baya,Amselem Serge⁵,Taam Rola Abou⁷,Edelman Aleksander,Planelles Gabrielle,Sermet-Gaudelus Isabelle

Affiliation:

1. UMR 5089 CNRS; Université Paul Sabatier; Toulouse; France

2. CNRS; FRE 3094; Nice; France

3. Service de Pneumologie; Hôpital Tenon; Paris; France

4. INSERM U 845; Paris; France

5. INSERM U 933; Physiopathologie des maladies génétiques d'expression pédiatrique, Hôpital Armand Trousseau; Paris; France

6. INSERM U 872; Paris; France

7. Service de Pneumo-Pédiatrie; Hôpital Necker; Paris; France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22382/fullpdf

Reference47 articles.

1. J SLC26A9-mediated chloride secretion prevents mucus obstruction in airway inflammation;Anagnostopoulou;J Clin Invest,2012

2. Characterization of the L683P mutation of SLC26A9 in Xenopus oocytes;Avella;Biochem Biophys Acta,2011a

3. SLC26A9 stimulates CFTR expression and function in human bronchial cell lines;Avella;J Cell Physiol,2011b

4. Structure of a SLC26 anion transporter STAS domain in complex with acyl carrier protein: implications for E. coli YchM in fatty acid metabolism;Babu;Structure,2010

5. NH3 is involved in the NH4 +transport induced by the functional expression of the human Rh C glycoprotein;Bakouh;J Biol Chem,2004

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1. The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation;Clinica Chimica Acta;2024-07

2. The role of the STAS domain in SLC26A9 for chloride ion transporter function;Biophysical Journal;2024-06

3. The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations;2024-01-04

4. Elevator motion of chloride ion transporter SLC26A9 induced by STAS domain;2023-07-30

5. Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro;Gene;2023-06

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