Detalhe da pesquisa
1.
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
Am J Hum Genet
; 108(8): 1512-1525, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242570
2.
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835434
3.
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Int J Mol Sci
; 24(18)2023 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762110
4.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Mol Med
; 27(1): 157, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906067
5.
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Haematologica
; 105(3): 829-837, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273093
6.
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.
Int J Mol Sci
; 21(22)2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228018
7.
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.
Int J Mol Sci
; 21(6)2020 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244944
8.
Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.
Hum Mutat
; 40(1): 48-52, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30408273
9.
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.
PLoS Genet
; 12(5): e1006082, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27227676
10.
Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.
Int J Mol Sci
; 20(12)2019 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31234407
11.
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.
Int J Mol Sci
; 20(17)2019 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31450582
12.
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.
Hum Mutat
; 39(5): 702-708, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388273
13.
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
J Hum Genet
; 63(5): 683-686, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497141
14.
Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.
Hum Mol Genet
; 24(17): 4809-16, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063760
15.
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 15-20, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27639833
16.
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Hum Mol Genet
; 21(11): 2389-98, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22362925
17.
DNA base editing corrects common Hemophilia A mutations and restores factor VIII expression in vitro and ex-vivo models.
J Thromb Haemost
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718928
18.
Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation.
J Thromb Haemost
; 22(4): 975-989, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184202
19.
3D Printed Materials for Permanent Restorations in Indirect Restorative and Prosthetic Dentistry: A Critical Review of the Literature.
Materials (Basel)
; 17(6)2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38541534
20.
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.
Biochim Biophys Acta
; 1822(7): 1109-13, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426302