Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids

Rescue of multiple class II CFTR mutations by elexacaftor+ tezacaftor+ivacaftor mediated in part by the dual activities of Elexacaftor as both corrector and potentiator

(2021) Onofrio Laselva et al.   EUROPEAN RESPIRATORY JOURNAL

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

(2020) Miquéias Lopes-Pacheco   Frontiers in Pharmacology

Discovery of a picomolar potency pharmacological corrector of the mutant CFTR chloride channel

(2020) Nicoletta Pedemonte et al.   Science Advances

Lung function and microbiota diversity in cystic fibrosis

(2020) Leah Cuthbertson et al.   Microbiome

Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis

(2020) Anabela S. Ramalho et al.   EUROPEAN RESPIRATORY JOURNAL

Emerging preclinical modulators developed for F508del-CFTR have the potential to be effective for ORKAMBI resistant processing mutants

(2020) Onofrio Laselva et al.   Journal of Cystic Fibrosis

The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can be Rescued by Ivacaftor

(2020) Onofrio Laselva et al.   Journal of Personalized Medicine

Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells

(2020) Paolo Scudieri et al.   Cells

Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination

(2020) Guido Veit et al.   JCI Insight

An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay

(2020) Marne C Hagemeijer et al.   BIOINFORMATICS

How to determine the mechanism of action of CFTR modulator compounds: A gateway to theranostics

(2020) Margarida D. Amaral   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis

(2020) Iris A. L. Silva et al.   Frontiers in Physiology

Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine

(2019) Iwona Pranke et al.   Frontiers in Pharmacology

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis

(2019) Gitte Berkers et al.   Cell Reports

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality

(2019) Felice Amato et al.   HUMAN MUTATION

Cystic fibrosis - an example of personalized and precision medicine

(2019) Marianne Skov et al.   APMIS

Intestinal organoids to model Cystic Fibrosis

(2019) Peter van Mourik et al.   EUROPEAN RESPIRATORY JOURNAL

ORKAMBI-Mediated Rescue of Mucociliary Clearance in Cystic Fibrosis Primary Respiratory Cultures Is Enhanced by Arginine Uptake, Arginase Inhibition, and Promotion of Nitric Oxide Signaling to the Cystic Fibrosis Transmembrane Conductance Regulator Channel

(2019) Yu-Sheng Wu et al.   MOLECULAR PHARMACOLOGY

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

(2019) Peter G. Middleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action

(2019) Onofrio Laselva et al.   Journal of Cystic Fibrosis

Microbiology of Cystic Fibrosis Airway Disease

(2019) Ana C. Blanchard et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations

(2018) Misak Harutyunyan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

R560S: A class II CFTR mutation that is not rescued by current modulators

(2018) Nikhil T. Awatade et al.   Journal of Cystic Fibrosis

Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function

(2018) Karin M. de Winter-de Groot et al.   EUROPEAN RESPIRATORY JOURNAL

Structure-guided combination therapy to potently improve the function of mutant CFTRs

(2018) Guido Veit et al.   NATURE MEDICINE

Personalized or Precision Medicine? The Example of Cystic Fibrosis

(2017) Fernando A. L. Marson   Frontiers in Pharmacology

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis

(2016) Johanna F. Dekkers et al.   Science Translational Medicine

Progress in therapies for cystic fibrosis

(2016) Kris De Boeck et al.   Lancet Respiratory Medicine

Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy

(2015) André M. Cantin et al.   Journal of Cystic Fibrosis

Personalized medicine for cystic fibrosis: Establishing human model systems

(2015) Hongmei Mou et al.   PEDIATRIC PULMONOLOGY

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis

(2015) Nikhil T. Awatade et al.   EBioMedicine

Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility

(2013) Maria F Servidoni et al.   BMC GASTROENTEROLOGY

Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

(2012) Marisa Sousa et al.   PLoS One

Regulation of Electroneutral NaCl Absorption by the Small Intestine

(2011) Akira Kato et al.   Annual Review of Physiology

The K+ Channel Opener 1-EBIO Potentiates Residual Function of Mutant CFTR in Rectal Biopsies from Cystic Fibrosis Patients

(2011) Eva K. Roth et al.   PLoS One