(Q35286065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

review article

1 reference

title

Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

0 references

Margarida Duarte Amaral

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author name string

M D Amaral

series ordinal

1

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 February 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

Journal of Internal Medicine

20 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

155-166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25266997%20AND%20SRC:MED&resulttype=core&format=json

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

20 February 2020

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21 January 2018

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Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis

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Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis.

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21 January 2018

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Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

21 January 2018

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Managing cystic fibrosis: strategies that increase life expectancy and improve quality of life

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Management of comorbidities in older patients with cystic fibrosis.

21 January 2018

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Gender and survival in cystic fibrosis

21 January 2018

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Targeting CFTR: how to treat cystic fibrosis by CFTR-repairing therapies.

21 January 2018

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Rescuing mutant CFTR: a multi-task approach to a better outcome in treating cystic fibrosis.

21 January 2018

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Cystic fibrosis: molecular biology and therapeutic implications

21 January 2018

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Pseudomonas aeruginosa infection in cystic fibrosis lung disease and new perspectives of treatment: a review

21 January 2018

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A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis.

21 January 2018

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CFTR biomarkers: time for promotion to surrogate end-point.

21 January 2018

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CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: Report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26-29 March 2014

21 January 2018

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An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea

21 January 2018

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The role of the bacterial microbiome in lung disease

21 January 2018

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Nonclassic cystic fibrosis and CFTR-related diseases

21 January 2018

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Recommendations for the classification of diseases as CFTR-related disorders

21 January 2018

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'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

21 January 2018

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Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

21 January 2018

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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

21 January 2018

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Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

21 January 2018

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Macromolecular interactions and ion transport in cystic fibrosis

21 January 2018

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CFTR function and prospects for therapy

21 January 2018

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Human genetics: One gene, twenty years.

21 January 2018

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CYSTIC FIBROSIS OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE

21 January 2018

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Identification of the cystic fibrosis gene: chromosome walking and jumping

21 January 2018

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The challenge of using gene- or cell-based therapies to treat lung disease

21 January 2018

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Therapeutics development for cystic fibrosis: a successful model for a multisystem genetic disease

21 January 2018

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Genotype-phenotype correlations in cystic fibrosis

21 January 2018

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

21 January 2018

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Mechanisms of protein misfolding in conformational lung diseases

21 January 2018

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Cigarette smoke-induced Ca2+ release leads to cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction

21 January 2018

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Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

Acquired defects in CFTR-dependent β-adrenergic sweat secretion in chronic obstructive pulmonary disease

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

Cigarette smoke and calcium conspire to impair CFTR function in airway epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJOIM.12314

How the airway smooth muscle in cystic fibrosis reacts in proinflammatory conditions: implications for airway hyper-responsiveness and asthma in cystic fibrosis

21 January 2018

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Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis

21 January 2018

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The role of CFTR mutations in asthma

21 January 2018

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A mouse model for the delta F508 allele of cystic fibrosis.

21 January 2018

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An animal model for cystic fibrosis made by gene targeting

21 January 2018

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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

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Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 January 2018

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Cystic fibrosis: genotypic and phenotypic variations

21 January 2018

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CFTR and chaperones: processing and degradation.

21 January 2018

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Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

21 January 2018

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Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

21 January 2018

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First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

21 January 2018

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C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation

21 January 2018

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Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients

21 January 2018

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Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction.

21 January 2018

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Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein

21 January 2018

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Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

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Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

Cancer syndromes and therapy by stop-codon readthrough

21 January 2018

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Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

21 January 2018

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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy

21 January 2018

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Processing of CFTR: traversing the cellular maze--how much CFTR needs to go through to avoid cystic fibrosis?

21 January 2018

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

21 January 2018

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Chloride channels as drug targets

21 January 2018

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Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules

21 January 2018

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Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809.

21 January 2018

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Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

Genistein: a natural isoflavone with a potential for treatment of genetic diseases

21 January 2018

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HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR.

21 January 2018

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A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect.

21 January 2018

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Airway surface dehydration in cystic fibrosis: pathogenesis and therapy

21 January 2018

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Functional genomics assays to study CFTR traffic and ENaC function

21 January 2018

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21 January 2018

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The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients

21 January 2018

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Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research

21 January 2018

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Clinical assessment incorporating a personal genome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJOIM.12314

CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

21 January 2018

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