Evidence for a dominant‐negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I
Author:
Affiliation:
1. Department of Dermatology Yamaguchi University Graduate School of Medicine Ube Japan
2. Division of Dermatology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15930
Reference21 articles.
1. HAE Pathophysiology and Underlying Mechanisms
2. Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.
3. Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
4. Hereditary Angioedema with Normal C1 Inhibitor
5. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor
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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. Clinical Evaluation of Pediatric Patients with Hereditary Angioedema;The Tohoku Journal of Experimental Medicine;2024
3. Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants;Journal of Allergy and Clinical Immunology;2023-11
4. Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan;KEIO J MED;2023
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