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-Reference-Cited by-同舟云学术

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

Published:2023-06 Issue: Volume:871 Page:147428
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Santos Luana Gavioli,Pereira Stéphanie Villa-Nova,Kmit Arthur Henrique Pezzo,Bonadia Luciana Cardoso,Bertuzzo Carmen Sílvia,Ribeiro José Dirceu,Mazzola Taís Nitsch,Marson Fernando Augusto Lima

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference50 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis;Aksit;Am. J. Hum. Gene,2022

3. Development of novel therapeutics for all individuals with CF (the future goes on);Amaral;J. Cyst. Fibros.,2022

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

5. Characterization of SLC26A9 in patients with CF-like lung disease;Bakouh;Hum. Mutat.,2013

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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. In utero and postnatal ivacaftor/lumacaftor therapy rescues multiorgan disease in CFTR-F508del ferrets;JCI Insight;2024-04-22

3. Epidemiological Profile of Hospitalized Patients with Cystic Fibrosis in Brazil Due to Severe Acute Respiratory Infection during the COVID-19 Pandemic and a Systematic Review of Worldwide COVID-19 in Those with Cystic Fibrosis;Healthcare;2023-07-04