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Academic Journal

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

  • Authors : Wu X; From the Department of Laboratory Medicine, Ruijin Hospital (X.W., J.D., L.L., Y.L., Q.D., W.W., X.W.), Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Dai J

Subjects: Genetic Predisposition to Disease* ; Mutation*; DNA/DNA/DNA/*genetics

  • Source: Arteriosclerosis, thrombosis, and vascular biology [Arterioscler Thromb Vasc Biol] 2020 Feb; Vol. 40 (2), pp. 483-494. Date of Electronic Publication: 2019 Dec 26.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505803 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

The Disulfide Bond between Cys22 and Cys27 in the Protease Domain Modulate Clotting Activity of Coagulation Factor X.

  • Authors : Li F; State Key Laboratory of Microbial Metabolism, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.; Chen C

Subjects: Factor X/Factor X/Factor X/*metabolism ; Factor X Deficiency/Factor X Deficiency/Factor X Deficiency/*genetics ; Mutation/Mutation/Mutation/*genetics

  • Source: Thrombosis and haemostasis [Thromb Haemost] 2019 Jun; Vol. 119 (6), pp. 871-881. Date of Electronic Publication: 2019 Mar 27.Publisher: Thieme Country of Publication: Germany NLM ID: 7608063 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2567-689X

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Academic Journal

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

  • Authors : Li L; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Wu X

Subjects: Mutation*; Blood Proteins/Blood Proteins/Blood Proteins/*genetics ; Protein S/Protein S/Protein S/*genetics

  • Source: Thrombosis and haemostasis [Thromb Haemost] 2019 Mar; Vol. 119 (3), pp. 449-460. Date of Electronic Publication: 2019 Jan 22.Publisher: Thieme Country of Publication: Germany NLM ID: 7608063 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2567-689X

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Academic Journal

p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.

  • Authors : Shen L; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, 209 Little White House, 1954 Hua Shan Road, Shanghai, 200030, People's Republic of China.; Ma G

Subjects: Mutation*; Brachydactyly/Brachydactyly/Brachydactyly/*genetics ; Hedgehog Proteins/Hedgehog Proteins/Hedgehog Proteins/*genetics Brachydactyly type A1

  • Source: BMC genetics [BMC Genet] 2019 Jan 16; Vol. 20 (1), pp. 10. Date of Electronic Publication: 2019 Jan 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100966978 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2156

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Academic Journal

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

  • Authors : Wu X; Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.; Li L

Subjects: DNA Mutational Analysis* ; Mutation*; Blood Coagulation/Blood Coagulation/Blood Coagulation/*genetics

  • Source: Journal of clinical pathology [J Clin Pathol] 2018 Jul; Vol. 71 (7), pp. 614-619. Date of Electronic Publication: 2018 Jan 13.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A pericentric inversion of chromosome X disrupting F8 and resulting in haemophilia A.

  • Authors : Xin Y; Department of Laboratory Medicine, The Fourth Affiliated Hospital, Harbin Medical University, Harbin, China.; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Subjects: Chromosome Inversion/Chromosome Inversion/Chromosome Inversion/*genetics ; Factor VIII/Factor VIII/Factor VIII/*genetics ; Hemophilia A/Hemophilia A/Hemophilia A/*genetics

  • Source: Journal of clinical pathology [J Clin Pathol] 2017 Aug; Vol. 70 (8), pp. 656-661. Date of Electronic Publication: 2017 Jan 10.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen Aα chain and impairs fibrin polymerization.

  • Authors : Zhou J; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.; Ding Q

Subjects: Mutation*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics ; Antiphospholipid Syndrome/Antiphospholipid Syndrome/Antiphospholipid Syndrome/*genetics Dysfibrinogenemia, Congenital

  • Source: Journal of clinical pathology [J Clin Pathol] 2017 Feb; Vol. 70 (2), pp. 145-153. Date of Electronic Publication: 2016 Aug 23.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

  • Authors : Zhang YZ; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.; Zhao DH

Subjects: Mutation*; Collagen Type VI/Collagen Type VI/Collagen Type VI/*genetics ; Muscular Dystrophies/Muscular Dystrophies/Muscular Dystrophies/*genetics Scleroatonic muscular dystrophy

  • Source: World journal of pediatrics : WJP [World J Pediatr] 2014 May; Vol. 10 (2), pp. 126-32. Date of Electronic Publication: 2014 May 07.Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

N-glycosylation mutations within hepatitis B virus surface major hydrophilic region contribute mostly to immune escape.

  • Authors : Yu DM; Department of Infectious Disease, Institute of Infectious and Respiratory Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.; Li XH

Subjects: Immune Evasion* ; Mutation*; Hepatitis B Surface Antigens/Hepatitis B Surface Antigens/Hepatitis B Surface Antigens/*genetics

  • Source: Journal of hepatology [J Hepatol] 2014 Mar; Vol. 60 (3), pp. 515-22. Date of Electronic Publication: 2013 Nov 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8503886 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[The binding mechanisms of F VIII Trp1707Ser mutation-associated inhibitor].

  • Authors : Wu X; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Department of Clinical Laboratory, Ruijin Hospital of Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.; Lu YL

Subjects: Mutation*; Factor VIII/Factor VIII/Factor VIII/*genetics ; Hemophilia A/Hemophilia A/Hemophilia A/*genetics

  • Source: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi [Zhonghua Xue Ye Xue Za Zhi] 2013 Aug; Vol. 34 (8), pp. 691-5.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 8212398 Publication Model: Print Cited Medium: Print ISSN: 0253-2727

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