Detalhe da pesquisa
1.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Am J Hum Genet
; 109(8): 1484-1499, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896117
2.
Evaluation of aminopyrrolidine amide to improve chloride transport in CFTR-defective cells.
Bioorg Med Chem Lett
; 72: 128866, 2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35752380
3.
GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype.
Bioinformatics
; 35(14): 2492-2494, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508040
4.
TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1.
Mol Biol Rep
; 47(4): 3031-3040, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32200451
5.
G551D-CFTR needs more bound actin than wild-type CFTR to maintain its presence in plasma membranes.
Cell Biol Int
; 39(8): 978-85, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712891
6.
The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.
Cells
; 13(2)2024 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247876
7.
The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis.
Cells
; 10(11)2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34831204
8.
Annexin A5 increases the cell surface expression and the chloride channel function of the DeltaF508-cystic fibrosis transmembrane regulator.
Biochim Biophys Acta
; 1782(10): 605-14, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18773956
9.
Coupling cystic fibrosis to endoplasmic reticulum stress: Differential role of Grp78 and ATF6.
Biochim Biophys Acta
; 1772(11-12): 1236-49, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18022401
10.
Annexin V is directly involved in cystic fibrosis transmembrane conductance regulator's chloride channel function.
Biochim Biophys Acta
; 1772(10): 1121-33, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17869070
11.
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Eur J Hum Genet
; 15(9): 936-42, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17568390
12.
In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.
PLoS One
; 12(3): e0173822, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28339466
13.
Calumenin contributes to ER-Ca2+ homeostasis in bronchial epithelial cells expressing WT and F508del mutated CFTR and to F508del-CFTR retention.
Cell Calcium
; 62: 47-59, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28189267
14.
Buserelin alleviates chloride transport defect in human cystic fibrosis nasal epithelial cells.
PLoS One
; 12(11): e0187774, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29145426
15.
Reduced myocardial expression of calcium handling protein in patients with severe chronic mitral regurgitation.
Eur J Cardiothorac Surg
; 30(5): 737-43, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16996747
16.
Role of Interaction and Nucleoside Diphosphate Kinase B in Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator Function by cAMP-Dependent Protein Kinase A.
PLoS One
; 11(3): e0149097, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26950439
17.
Externalization of endogenous annexin A5 participates in apoptosis of rat cardiomyocytes.
Cardiovasc Res
; 64(3): 496-506, 2004 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15537503
18.
Biophysical characterisation of calumenin as a charged F508del-CFTR folding modulator.
PLoS One
; 9(8): e104970, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25120007
19.
Improvement of chloride transport defect by gonadotropin-releasing hormone (GnRH) in cystic fibrosis epithelial cells.
PLoS One
; 9(2): e88964, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586461
20.
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
PLoS One
; 8(9): e74728, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24069336