Pharmacogenomics: current status and future perspectives

M Pirmohamed - Nature Reviews Genetics, 2023 - nature.com
Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …

Genetics and epigenetics of chronic rhinosinusitis

D Lal, T Brar, SP Ramkumar, J Li, A Kato… - Journal of Allergy and …, 2023 - Elsevier
Discerning the genetics and epigenetics of chronic rhinosinusitis (CRS) may optimize
outcomes through early diagnostics, personalized and novel therapeutics, and early …

[HTML][HTML] Newly discovered cutting-edge triple combination cystic fibrosis therapy: a systematic review

SN Dawood, AM Rabih, A Niaj, A Raman, M Uprety… - Cureus, 2022 - ncbi.nlm.nih.gov
A cystic fibrosis (CF) transmembrane conductor regulator (CFTR) gene modulating triple
therapy combining elexacaftor-tezacaftor-ivacaftor (Trikafta) has been recently discovered …

Targeting ubiquitination machinery in cystic fibrosis: Where do we stand?

T Okiyoneda, C Borgo, V Bosello Travain… - Cellular and Molecular …, 2024 - Springer
Cystic Fibrosis (CF) is a genetic disease caused by mutations in CFTR gene expressing the
anion selective channel CFTR located at the plasma membrane of different epithelial cells …

Potential systemic effects of acquired CFTR dysfunction in COPD

M Miravitlles, GJ Criner, MA Mall, SM Rowe… - Respiratory …, 2023 - Elsevier
Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation,
respiratory symptoms, inflammation of the airways, and systemic manifestations of the …

Screening by high‐throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies

ACV de Melo, KSC de Souza… - Journal of Cellular …, 2022 - Wiley Online Library
This short report documented cystic fibrosis transmembrane conductance regulator (CFTR)
variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of …

Rewiring Drug Research and Development through Human Data-Driven Discovery (HD3)

DB Jackson, R Racz, S Kim, S Brock, K Burkhart - Pharmaceutics, 2023 - mdpi.com
In an era of unparalleled technical advancement, the pharmaceutical industry is struggling to
transform data into increased research and development efficiency, and, as a corollary, new …

[PDF][PDF] Tritherapy with cystic fibrosis transmembrane conductance regulator protein modulators in cystic fibrosis

OF Colodro, AV Grell, AM Yarur, CS Clerc - Andes Pediatr, 2022 - researchgate.net
Recent studies have shown that therapy with Cystic fibrosis transmembrane conductance
regulator (CFTR) modulators in Cystic Fibrosis (CF) patients with Elexacaftor-Tezacaftor …

O Impacto da Terapêutica Moduladora da CFTR na Infeção Pulmonar Crónica em Doentes com Fibrose Quística

J Rodrigues, R Boaventura… - Acta Médica …, 2023 - actamedicaportuguesa.com
Cystic fibrosis is the most common lethal genetic disease in the white population, affecting
approximately 80 000 people worldwide. It is an autosomal recessive, monogenic, and …

The Tmem16a chloride channel is required for mucin maturation after secretion from goblet-like cells in the Xenopus tropicalis tadpole skin.

E Dubaissi, H Emma, S Lilley, R Collins, H Danahay… - 2024 - researchsquare.com
The TMEM16A chloride channel is proposed as a therapeutic target in cystic fibrosis, where
activation of this ion channel might restore airway surface hydration and mitigate respiratory …