Detalhe da pesquisa
1.
Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis.
J Pers Med
; 14(1)2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248793
2.
PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR.
Eur J Pharmacol
; 967: 176390, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336013
3.
Additive Potentiation of R334W-CFTR Function by Novel Small Molecules.
J Pers Med
; 13(1)2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675763
4.
Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.
Pharmaceuticals (Basel)
; 16(3)2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36986509
5.
Identification of novel F508del-CFTR traffic correctors among triazole derivatives.
Eur J Pharmacol
; 938: 175396, 2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410419
6.
Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation.
J Cyst Fibros
; 21(1): 181-187, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34103250
7.
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.
Cells
; 11(1)2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35011698
8.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Neuromuscul Disord
; 28(4): 350-360, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398297
9.
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
Eur J Med Genet
; 60(3): 172-177, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027978
10.
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Mitochondrion
; 31: 84-88, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27756633
11.
Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants".
Eur J Med Genet
; 61(1): 46-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807868