Cargando…

Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis

OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Coutinho, Cyntia Arivabeni de Araújo Correia, Marson, Fernando Augusto de Lima, Ribeiro, Antônio Fernando, Ribeiro, José Dirceu, Bertuzzo, Carmen Silvia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Pneumologia e Tisiologia Paulo 2013
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075877/ https://www.ncbi.nlm.nih.gov/pubmed/24310628 http://dx.doi.org/10.1590/S1806-37132013000500005

Ejemplares similares

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis
por: Marson, Fernando Augusto de Lima, et al.
Publicado: (2013)

Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
por: Marson, Fernando Augusto de Lima, et al.
Publicado: (2014)

Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis,
por: Marson, Fernando Augusto de Lima, et al.
Publicado: (2013)

Personalized or Precision Medicine? The Example of Cystic Fibrosis
por: Marson, Fernando A. L., et al.
Publicado: (2017)

Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations
por: Ng, Ronny Tah Yen, et al.
Publicado: (2015)

Cost of precision medicine at a referral center for cystic fibrosis
por: Marson, Fernando Augusto Lima
Publicado: (2020)

Saliva as a potential tool for cystic fibrosis diagnosis
por: Gonçalves, Aline Cristina, et al.
Publicado: (2013)

Association between the IVS4G > T mutation in the TCF7L2 gene and susceptibility to diabetes in cystic fibrosis patients
por: Furgeri, Daniela Tenório, et al.
Publicado: (2012)

Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosis
por: Marson, Fernando A L, et al.
Publicado: (2012)

Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives
por: Schmidt, Béla Z, et al.
Publicado: (2016)

The Extrapulmonary Effects of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Cystic Fibrosis
por: Sergeev, Valentine, et al.
Publicado: (2020)

Demographic, clinical, and laboratory parameters of cystic fibrosis during the last two decades: a comparative analysis
por: Marson, Fernando Augusto de Lima, et al.
Publicado: (2015)

Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?
por: Zorron, Mariana, et al.
Publicado: (2022)

The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis
por: Marson, Fernando A L, et al.
Publicado: (2012)

Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil
por: Servidoni, Maria Fátima, et al.
Publicado: (2017)

Glycosylation and the cystic fibrosis transmembrane conductance regulator
por: Scanlin, Thomas F, et al.
Publicado: (2001)

Where Is the Cystic Fibrosis Transmembrane Conductance Regulator?
por: Barbry, Pascal, et al.
Publicado: (2021)

Lung ultrasound assessment of response to antibiotic therapy in cystic fibrosis exacerbations: a study of two cases
por: Peixoto, Andressa Oliveira, et al.
Publicado: (2019)

Association of growth and nutritional parameters with pulmonary function in cystic fibrosis: a literature review
por: Mauch, Renan Marrichi, et al.
Publicado: (2016)

Volumetric capnography versus spirometry for the evaluation of pulmonary function in cystic fibrosis and allergic asthma()()
por: Almeida-Junior, Armando, et al.
Publicado: (2018)

Factors impacting the growth and nutritional status of cystic fibrosis patients younger than 10 years of age who did not undergo neonatal screening
por: Hortencio, Taís Daiene Russo, et al.
Publicado: (2015)

Acquired cystic fibrosis transmembrane conductance regulator dysfunction
por: Banks, Catherine, et al.
Publicado: (2018)

Targeted Activation of Cystic Fibrosis Transmembrane Conductance Regulator
por: Villamizar, Olga, et al.
Publicado: (2019)

Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia
Publicado: (1992)

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ubiquitylation as a Novel Pharmaceutical Target for Cystic Fibrosis
por: Fukuda, Ryosuke, et al.
Publicado: (2020)

A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis
por: Huang, Elena N., et al.
Publicado: (2021)

Anti-Inflammatory Influences of Cystic Fibrosis Transmembrane Conductance Regulator Drugs on Lung Inflammation in Cystic Fibrosis
por: Harwood, Kiera H., et al.
Publicado: (2021)

A New Era for Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator Modulator Trials in Infants
por: Wainwright, Claire E.
Publicado: (2022)

Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
por: Carbone, Annalucia, et al.
Publicado: (2023)

Evaluation of continuous constant current and continuous pulsed current in sweat induction for cystic fibrosis diagnosis
por: Gomez, Carla Cristina Souza, et al.
Publicado: (2018)

Ventilatory abnormalities in patients with cystic fibrosis undergoing the submaximal treadmill exercise test
por: Parazzi, Paloma Lopes Francisco, et al.
Publicado: (2015)

666 Ivacaftor boosts cystic fibrosis transmembrane conductance regulator–mediated nasal potential difference in cystic fibrosis transmembrane conductance regulator knockout mice treated with human cystic fibrosis transmembrane conductance regulator messenger ribonucleic acid lipid nanoparticle
por: Mukherjee, A., et al.
Publicado: (2022)

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Allelic Variants Relate to Shifts in Faecal Microbiota of Cystic Fibrosis Patients
por: Schippa, Serena, et al.
Publicado: (2013)

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have differential effects on cystic fibrosis macrophage function
por: Zhang, Shuzhong, et al.
Publicado: (2018)

Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients
por: Khalilzadeh, Soheila, et al.
Publicado: (2018)

Cystic Fibrosis Transmembrane Conductance Regulator Genotype, Not Circulating Catecholamines, Influences Cardiovascular Function in Patients with Cystic Fibrosis
por: Bisch, Alexander L, et al.
Publicado: (2019)

Cystic fibrosis patients on cystic fibrosis transmembrane conductance regulator modulators have a reduced incidence of cirrhosis
por: Ramsey, Mitchell L, et al.
Publicado: (2022)

The effect of cystic fibrosis transmembrane conductance regulator modulators on impaired glucose tolerance and cystic fibrosis related diabetes
por: Hasan, Sana, et al.
Publicado: (2022)

Effectiveness and Safety of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Children With Cystic Fibrosis: A Meta-Analysis
por: Li, Qiyu, et al.
Publicado: (2022)

Corneal Refractive Surgery Considerations in Patients with Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders
por: Moshirfar, Majid, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_5euioht60o8prkv048uimtr4d3