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.
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.
Haematologica
; 108(2): 472-482, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924581
3.
Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors.
Haemophilia
; 29(2): 479-487, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36533781
4.
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
5.
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
6.
Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.
Br J Haematol
; 194(2): 453-462, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34109608
7.
Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis.
Haematologica
; 106(2): 351-362, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33406812
8.
Hemostasis components in cerebral amyloid angiopathy and Alzheimer's disease.
Neurol Sci
; 42(8): 3177-3188, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041636
9.
Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.
Int J Mol Sci
; 23(1)2021 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008743
10.
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
RNA Biol
; 17(2): 254-263, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31613176
11.
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
12.
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.
Blood
; 129(16): 2303-2307, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196793
13.
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.
Haemophilia
; 25(4): 685-692, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30994257
14.
Performance prediction models based on anthropometric, genetic and psychological traits of Croatian sprinters.
Biol Sport
; 36(1): 17-23, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30899135
15.
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
16.
Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis.
Mol Med
; 24(1): 42, 2018 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134823
17.
Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.
Biochim Biophys Acta Mol Basis Dis
; 1864(3): 660-667, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246447
18.
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
19.
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.
Haematologica
; 103(2): 344-350, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29170251
20.
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