Detalhe da pesquisa
1.
Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor.
Mol Ther
; 31(6): 1647-1660, 2023 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36895161
2.
Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.
Eur Respir J
; 57(1)2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747394
3.
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Eur Respir J
; 57(4)2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184117
4.
Fast compressive lens-free tomography for 3D biological cell culture imaging.
Opt Express
; 28(18): 26935-26952, 2020 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906958
5.
rAAV-CFTRΔR Rescues the Cystic Fibrosis Phenotype in Human Intestinal Organoids and Cystic Fibrosis Mice.
Am J Respir Crit Care Med
; 193(3): 288-98, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26509335
6.
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Hum Mutat
; 35(10): 1249-59, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066652
7.
Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells.
Cell Rep Med
; 5(5): 101544, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697102
8.
Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis.
J Cyst Fibros
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749892
9.
Patient-derived cell models for personalized medicine approaches in cystic fibrosis.
J Cyst Fibros
; 22 Suppl 1: S32-S38, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529661
10.
Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids.
ERJ Open Res
; 8(2)2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35449760
11.
Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
J Cyst Fibros
; 21(4): 644-651, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690578
12.
The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.
Life (Basel)
; 11(1)2020 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33375403
13.
Author Correction: Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.
Nat Commun
; 11(1): 5457, 2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093446
14.
Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects.
Cells
; 9(3)2020 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32204475
15.
Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids.
STAR Protoc
; 1(1): 100019, 2020 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111074
16.
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.
Cell Physiol Biochem
; 24(5-6): 335-46, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19910674
17.
Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.
Nat Commun
; 10(1): 3556, 2019 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31391465
18.
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
J Cyst Fibros
; 15(1): 21-33, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25735457
19.
Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.
J Cyst Fibros
; 3 Suppl 2: 11-5, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15463918
20.
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
J Cyst Fibros
; 3 Suppl 2: 17-23, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15463919