Pascale Fanen - Publications

Functional and biochemical characterization of Alyftrek® components reveals high-potency rescue of F508del-CFTR.

Journal: American journal of physiology. Lung cellular and molecular physiology

Published: August 19, 2026

Evaluation of the yield index of genetic counselling for first-degree relatives of patients with hereditary transthyretin cardiac amyloidosis.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: May 15, 2026

Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9.

Journal: Stem cell research

Published: March 18, 2026

Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools.

Journal: Stem cell research

Published: March 18, 2026

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene.

Journal: Stem cell research

Published: October 07, 2025

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Journal: Pediatric pulmonology

Published: February 18, 2025

Surfactant protein B deficiency: the RespiRare cohort.

Journal: Thorax

Published: December 04, 2024

Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis.

Journal: Journal of the American Heart Association

Published: June 21, 2024

ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.

Journal: Biochemical pharmacology

Published: February 26, 2024

Peptide CIGB-552 has a synergistic effect on CFTR-F508del when combined with elexacaftor/tezacaftor/ivacaftor triple therapy for cystic fibrosis.

Journal: British journal of pharmacology

Published: December 30, 2023

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Journal: ERJ open research

Published: July 12, 2023

Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: June 28, 2023