Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema-Reference-Cited by-同舟云学术

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Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Published:2018-12-10 Issue:1 Volume:129 Page:388-405
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Haslund Didde,Ryø Laura Barrett,Seidelin Majidi Sara,Rose Iben,Skipper Kristian Alsbjerg^ORCID,Fryland Tue^ORCID,Bohn Anja Bille,Koch Claus,Thomsen Martin K.,Palarasah Yaseelan,Corydon Thomas J.^ORCID,Bygum Anette,Nejsum Lene N.^ORCID,Mikkelsen Jacob Giehm^ORCID

Funder

Lundbeck Foundation

CSL Behring

Fonden af 1870

Robert Wehnerts og Kirsten Wehnerts Fond

The A. P. Møller Foundation for the Advancement of Medical Science (Fonden til Lægevidenskabens Fremme)

Oda og Hans Svenningsens Fond-

AU-Ideas program at Aarhus University

Carlsberg foundation

Kongelig Hofbuntmager Aage Bangs Fond

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/98869/files/pdf

Reference46 articles.

1. HAE Update: Epidemiology and burden of disease

2. Genetics of Hereditary Angioedema Revisited

3. Hereditary angio-oedema in Denmark: a nationwide survey

4. Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

5. HAE Pathophysiology and Underlying Mechanisms

Cited by 45 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. Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema;Orphanet Journal of Rare Diseases;2024-09-13

2. Urine complement proteins are associated with kidney disease progression of type 2 diabetes in Korean and American cohorts;2024-08-17

3. 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

4. The biological function of Serpinb9 and Serpinb9-based therapy;Frontiers in Immunology;2024-06-20

5. Plasma microRNAs as biomarkers in hereditary angioedema;Annals of Allergy, Asthma & Immunology;2024-06

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