Detalhe da pesquisa
1.
L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fibrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.
Respir Res
; 24(1): 217, 2023 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37674160
2.
The MBL2 genotype relates to COVID-19 severity and may help to select the optimal therapy.
Clin Chem Lab Med
; 61(12): 2143-2149, 2023 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37313996
3.
Comparative Analysis of a Human Neutralizing mAb Specific for SARS-CoV-2 Spike-RBD with Cilgavimab and Tixagevimab for the Efficacy on the Omicron Variant in Neutralizing and Detection Assays.
Int J Mol Sci
; 24(12)2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373201
4.
Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination.
Int J Mol Sci
; 24(12)2023 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373505
5.
Search for SARS-CoV-2 RNA in platelets from COVID-19 patients.
Platelets
; 32(2): 284-287, 2021 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349108
6.
Interactions of Spike-RBD of SARS-CoV-2 and Platelet Factor 4: New Insights in the Etiopathogenesis of Thrombosis.
Int J Mol Sci
; 22(16)2021 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445266
7.
Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic Attack.
Medicina (Kaunas)
; 57(7)2021 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34357004
8.
ACE2: The Major Cell Entry Receptor for SARS-CoV-2.
Lung
; 198(6): 867-877, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170317
9.
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
Hum Mutat
; 40(6): 742-748, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851139
10.
High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.
J Biol Chem
; 293(4): 1203-1217, 2018 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29158263
11.
Correction to: L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fbrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.
Respir Res
; 24(1): 228, 2023 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742000
12.
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
J Med Genet
; 54(4): 224-235, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27738188
13.
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
J Pediatr Gastroenterol Nutr
; 65(1): 26-30, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28644346
14.
Peptide Nucleic Acids as miRNA Target Protectors for the Treatment of Cystic Fibrosis.
Molecules
; 22(7)2017 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28698463
15.
The friendly use of chloroquine in the COVID-19 disease: a warning for the G6PD-deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene.
Clin Chem Lab Med
; 58(7): 1162-1164, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333649
16.
Prothrombotic gene variants in acute myocardial infarction at a young age (yAMI). Rationale for tailored prevention strategies in specific risk-group subjects for acute coronary disease?
Nutr Metab Cardiovasc Dis
; 30(8): 1397-1400, 2020 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32513575
17.
The relevance of prothrombotic genetic variants in women who experienced pregnancy loss or embryo implantation failure: A retrospective analysis of 1922 cases.
Int J Gynaecol Obstet
; 165(1): 148-154, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112221
18.
Identification of an ultra-rare Alu insertion in the CFTR gene: Pitfalls and challenges in genetic test interpretation.
Clin Chim Acta
; 558: 118317, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38580140
19.
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
20.
The Immune Response to SARS-CoV-2 Vaccine in a Cohort of Family Pediatricians from Southern Italy.
Cells
; 12(11)2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296568