Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect-Reference-Cited by-同舟云学术

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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

Published:2022-10-10 Issue:19 Volume:7 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Bravo-Pérez Carlos,Toderici Mara,Chambers Joseph E.^ORCID,Martínez-Menárguez José A.,Garrido-Rodriguez Pedro^ORCID,Pérez-Sanchez Horacio,de la Morena-Barrio Belén,Padilla José,Miñano Antonia,Cifuentes-Riquelme Rosa,Vicente Vicente^ORCID,Lozano Maria L.^ORCID,Marciniak Stefan J.^ORCID,de la Morena-Barrio Maria Eugenia,Corral Javier

Funder

Instituto de Salud Carlos III

Fundación Séneca

MRC

Alpha-1 Foundation

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/161430/files/pdf

Reference65 articles.

1. The Serpins Are an Expanding Superfamily of Structurally Similar but Functionally Diverse Proteins

2. Antithrombin: in control of coagulation

3. Endogenous Anticoagulants

4. Management of antithrombin deficiency: an update for clinicians

5. Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy;Journal of Biomedical Science;2024-06-27

2. Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations;International Journal of Molecular Sciences;2024-03-01

3. SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency;Thrombosis Journal;2024-02-12

4. Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics;Thrombosis Research;2023-10

5. Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution;Journal of Blood Medicine;2023-09

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