Cftr Modulators - Genetic Mutations

Relevant Publications

Clinical outcomes of two infants with cystic fibrosis, including presence of the vas deferens, born to a woman with cystic fibrosis taking CFTR modulators during both pregnancies.

Issue Release: 2024

Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues.

Issue Release: 2024

TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR.

Issue Release: 2024

Nutritional status in the era of highly effective CFTR modulators.

Issue Release: 2024

In utero and postnatal ivacaftor/lumacaftor therapy rescues multiorgan disease in CFTR-F508del ferrets.

Issue Release: 2024

Long-Term therapy with CFTR modulators consistently improves glucose metabolism in adolescents and adults with Cystic Fibrosis.

Issue Release: 2024

Use of elexacaftor+tezacaftor+ivacaftor in individuals with cystic fibrosis and at least one F508del allele: a systematic review and meta-analysis.

Issue Release: 2024

Heterogeneity of CFTR modulator-induced sweat chloride concentrations in people with cystic fibrosis.

Issue Release: 2024

International disparities in diagnosis and treatment access for cystic fibrosis.

Issue Release: 2024

Association between CFTR modulators and changes in iron deficiency markers in cystic fibrosis.

Issue Release: 2024

Clinical outcomes of functional endoscopic sinus surgery in cystic fibrosis patients - a single centre experience.

Issue Release: 2024

Airway inflammation accelerates pulmonary exacerbations in cystic fibrosis.

Issue Release: 2024

[Therapeutics in cystic fibrosis: Clinical revolution and new challenges].

Issue Release: 2024

Cystic fibrosis in Iceland and the high prevalence of the N1303K variant.

Issue Release: 2024

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Issue Release: 2024

A rapid LC-MS/MS method for the simultaneous quantification of ivacaftor, lumacaftor, elexacaftor, tezacaftor, hexyl-methyl ivacaftor and ivacaftor carboxylate in human plasma.

Issue Release: 2024

Localization and function of humanized F508del-CFTR in mouse intestine following activation of serum glucocorticoid kinase 1 and Trikafta.

Issue Release: 2024

Enhanced CFTR modulator efficacy in ΔF508 CFTR mouse organoids by ablation of RFFL ubiquitin ligase.

Issue Release: 2024

Ribosomal Frameshifting Selectively Modulates the Assembly, Function, and Pharmacological Rescue of a Misfolded CFTR Variant.

Issue Release: 2024

The continuing need for dornase alfa for extracellular airway DNA hydrolysis in the era of CFTR modulators.

Issue Release: 2024

How Do Missense Mutations Differ from Other Types of Mutations?

How do Genetic Mutations Influence Medication Response?

What Are the Biological Consequences of UV-Induced Mutations?

Are There Any Preventive Measures for Asbestos-Induced Genetic Mutations?

What Are the Challenges in Pharmacogenomics?

What are the Challenges in Data Analysis?

How Do Mutations Cause Diseases?

How Does Gene Amplification Occur?

How does Pharmacogenomics Relate to Genetic Mutations?

Why is Karyotyping Important in the Context of Genetic Mutations?

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