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A case-report of the unprovoked thrombotic event in a patient with thymoma and severe FVII deficiency

Thrombosis journal, 2023-05, Vol.21 (1), p.52-52, Article 52

2023

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Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis

Arteriosclerosis, thrombosis, and vascular biology, 2020-02, Vol.40 (2), p.483-494

2020

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Development and desensitization therapy of high-response factor VIII inhibitors with severe allergic reaction in a moderate hemophilia A patient

International journal of immunopathology and pharmacology, 2021, Vol.35, p.2058738420980259-2058738420980259

2021

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Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis

Haematologica (Roma), 2021-01, Vol.106 (1), p.264-268

2021

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Screening and functional exploration of prothrombin Arg596 related mutations in Chinese venous thromboembolism patients

Journal of clinical pathology, 2018-07, Vol.71 (7), p.614-619

2018

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Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study

Thrombosis journal, 2023-10, Vol.21 (1), p.1-103, Article 103

2023

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Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders

Human genomics, 2022-07, Vol.16 (1), p.1-28, Article 28

2022

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Changes in Biomarkers of Coagulation, Fibrinolytic, and Endothelial Functions for Evaluating the Predisposition to Venous Thromboembolism in Patients With Hereditary Thrombophilia

Clinical and applied thrombosis/hemostasis, 2020, Vol.26, p.1076029620944471-1076029620944471

2020

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Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.182-182, Article 182

2019

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The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis

BMC medical genetics, 2018-03, Vol.19 (1), p.50-50, Article 50

2018

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The kunitz protease inhibitor domain of protease nexin-2 inhibits factor XIa and murine carotid artery and middle cerebral artery thrombosis

Blood, 2012-07, Vol.120 (3), p.671-677

2012

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Proteomics analysis of co-purifying cellular proteins associated with rAAV vectors

PloS one, 2014-02, Vol.9 (2), p.e86453-e86453

2014

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P1 and P2' site mutations convert protease nexin-2 from a factor XIa inhibitor to a plasmin inhibitor

Journal of biochemistry (Tokyo), 2013-02, Vol.153 (2), p.221-231

2013

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Minimal Essential Human Factor VIII Alterations Enhance Secretion and Gene Therapy Efficiency

Molecular therapy. Methods & clinical development, 2020-12, Vol.19, p.486-495

2020

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Identification of Key Coagulation Activity Determining Elements in Canine Factor VIII

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.328-336

2020

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Factor XI Homodimer Structure Is Essential for Normal Proteolytic Activation by Factor XIIa, Thrombin, and Factor XIa

The Journal of biological chemistry, 2008-07, Vol.283 (27), p.18655-18664

2008

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Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII

Blood, 2019-11, Vol.134 (20), p.1745-1754

2019

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Structural basis of von Willebrand factor multimerization and tubular storage

Blood, 2022-06, Vol.139 (22), p.3314-3324

2022

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Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain

Blood, 2004-07, Vol.104 (1), p.128-134

2004

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F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B

Blood, 2023-02, Vol.141 (6), p.677-680

2023

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Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection

Blood cells, molecules, & diseases, 2024-11, Vol.109, p.102874, Article 102874

2024

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Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China

Thrombosis and haemostasis, 2019-03, Vol.119 (3), p.449-460

2019

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The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression

Thrombosis research, 2021-02, Vol.198, p.23-25

2021

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Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression

Human mutation, 2022-07, Vol.43 (7), p.928-939

2022

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Heterozygous Prothrombin Mutation-Associated Thrombophilia

Thrombosis and haemostasis, 2024-07

2024

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A case-report of the unprovoked thrombotic event in a patient with thymoma and severe FVII deficiency

Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis

Development and desensitization therapy of high-response factor VIII inhibitors with severe allergic reaction in a moderate hemophilia A patient

Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis

Screening and functional exploration of prothrombin Arg596 related mutations in Chinese venous thromboembolism patients

Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study

Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders

Changes in Biomarkers of Coagulation, Fibrinolytic, and Endothelial Functions for Evaluating the Predisposition to Venous Thromboembolism in Patients With Hereditary Thrombophilia

Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis

The kunitz protease inhibitor domain of protease nexin-2 inhibits factor XIa and murine carotid artery and middle cerebral artery thrombosis

Proteomics analysis of co-purifying cellular proteins associated with rAAV vectors

P1 and P2' site mutations convert protease nexin-2 from a factor XIa inhibitor to a plasmin inhibitor

Minimal Essential Human Factor VIII Alterations Enhance Secretion and Gene Therapy Efficiency

Identification of Key Coagulation Activity Determining Elements in Canine Factor VIII

Factor XI Homodimer Structure Is Essential for Normal Proteolytic Activation by Factor XIIa, Thrombin, and Factor XIa

Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII

Structural basis of von Willebrand factor multimerization and tubular storage

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain

F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B

Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China

The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression

Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression

Heterozygous Prothrombin Mutation-Associated Thrombophilia

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