Detalhe da pesquisa
1.
Structural basis of von Willebrand factor multimerization and tubular storage.
Blood
; 139(22): 3314-3324, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148377
2.
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
Br J Haematol
; 202(3): 623-635, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951360
3.
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.
Hum Genomics
; 16(1): 28, 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897115
4.
A case-report of the unprovoked thrombotic event in a patient with thymoma and severe FVII deficiency.
Thromb J
; 21(1): 52, 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143073
5.
Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.
Thromb J
; 21(1): 103, 2023 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789321
6.
Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression.
Hum Mutat
; 43(7): 928-939, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391506
7.
Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor.
Hum Mutat
; 43(2): 215-227, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34882887
8.
Inhibitors: Diagnostic challenges, unknowns of inhibitor development, treatment of bleeding and surgery, and insights into diagnosis and treatment in China.
Haemophilia
; 28 Suppl 4: 111-118, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521731
9.
Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII.
Blood
; 134(20): 1745-1754, 2019 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558466
10.
Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis.
Arterioscler Thromb Vasc Biol
; 40(2): 483-494, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31875702
11.
F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B.
Blood
; 141(6): 677-680, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36347023
12.
Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively.
Haemophilia
; 25(3): 475-483, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866119
13.
The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.
Haemophilia
; 25(2): 316-323, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30648777
14.
Evaluation of the activity levels of rat FVIII and human FVIII delivered by adeno-associated viral vectors both in vitro and in vivo.
Blood Cells Mol Dis
; 73: 47-54, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249384
15.
The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis.
BMC Med Genet
; 19(1): 50, 2018 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29587641
16.
An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene.
Transfusion
; 57(9): 2140-2149, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653406
17.
Determination of sites of U50,488H-promoted phosphorylation of the mouse κ opioid receptor (KOPR): disconnect between KOPR phosphorylation and internalization.
Biochem J
; 473(4): 497-508, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26635353
18.
Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis.
Haematologica
; 106(1): 264-268, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32079698
19.
The kunitz protease inhibitor domain of protease nexin-2 inhibits factor XIa and murine carotid artery and middle cerebral artery thrombosis.
Blood
; 120(3): 671-7, 2012 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22674803
20.
Met343Val mutation disrupts the shuttling of Trp380 leading to a low-activity conformer of activated protein C and causes thrombosis.
J Thromb Haemost
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38788977