Novel mutations in ADAMTS13 CUB domains cause abnormal pre‐mRNA splicing and defective secretion of ADAMTS13-Reference-Cited by-同舟云学术

Novel mutations in ADAMTS13 CUB domains cause abnormal pre‐mRNA splicing and defective secretion of ADAMTS13

Published:2020-02-19 Issue:7 Volume:24 Page:4356-4361
ISSN:1582-1838
Container-title:Journal of Cellular and Molecular Medicine
language:en
Short-container-title:J Cell Mol Med

Author:

Jiang Yizhi¹²³⁴,Huang Dongping¹,Kondo Yuji⁴,Jiang Miao²³,Ma Zhenni²³,Zhou Lu²⁵,Su Jian²³,Bai Xia²³⁶,Ruan Changgeng²³⁶,Wang Zhaoyue²³,Xia Lijun²³⁴⁶^ORCID

Affiliation:

1. Department of Hematology The Affiliated Yijishan Hospital of Wannan Medical College Wuhu China

2. Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China

3. Collaborative Innovation Center of Hematology Soochow University Suzhou China

4. Cardiovascular Biology Research Program Oklahoma Medical Research Foundation Oklahoma City OK USA

5. Department of Hematology Affiliated Hospital of Nantong University Nantong China

6. State Key Laboratory of Radiation Medicine and Protection Soochow University Suzhou China

Funder

Oklahoma Medical Research Foundation

Publisher

Wiley

Subject

Cell Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jcmm.15025

Reference16 articles.

1. Von Willebrand factor–cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura

2. Improved Survival in Thrombotic Thrombocytopenic Purpura–Hemolytic Uremic Syndrome

3. von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends

4. Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): a cross-sectional analysis of the French national registry for thrombotic microangiopathy

5. Structure of von Willebrand Factor-cleaving Protease (ADAMTS13), a Metalloprotease Involved in Thrombotic Thrombocytopenic Purpura

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1. From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease;Seminars in Thrombosis and Hemostasis;2022-11-11

2. Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance;Blood Advances;2022-06-06

3. First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene;International Journal of Hematology;2021-01-02