Associated Papers
Cross-ancestry comparison of aptamer and antibody protein measures.
Nicholas JC et al.
Nature Communications, 2026
Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping.
Wetherby K et al.
Frontiers in Allergy, 2025
Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.
Vincent D et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
Zagkos L et al.
Genes, 2024
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).
Nabilou S et al.
Immunological Investigations, 2022
Component 1 Inhibitor Missense (Val480Met) Variant Is Associated With Gene Expression and Sepsis Development in Neonatal Lung Disease.
Elngar EF et al.
Frontiers in Pediatrics, 2022
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India.
Jindal AK et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021
Gene variants of coagulation related proteins that interact with SARS-CoV-2.
Holcomb D et al.
Plos Computational Biology, 2021
Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2.
Holcomb D et al.
Biorxiv : the Preprint Server for Biology, 2020
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.
Vatsiou S et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2020
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
Bork K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Bork K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
An update on the genetics and pathogenesis of hereditary angioedema.
Banday AZ et al.
Genes & Diseases, 2020
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.
Obtulowicz K et al.
Central-european Journal of Immunology, 2020
Host genetic variants in sepsis risk: a field synopsis and meta-analysis.
Lu H et al.
Critical Care (london, England), 2019
The role of the complement system in hereditary angioedema.
Csuka D et al.
Molecular Immunology, 2017
Genetics of Hereditary Angioedema Revisited.
Germenis AE et al.
Clinical Reviews in Allergy & Immunology, 2016
Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain.
Jaradat SA et al.
Molecular Immunology, 2016
Discovery of coding genetic variants influencing diabetes-related serum biomarkers and their impact on risk of type 2 diabetes.
Ahluwalia TS et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 2015
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
Johnsrud I et al.
Plos One, 2015
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
Johnsrud I et al.
Plos One, 2015
Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.
Jaradat SA et al.
International Journal of Clinical and Experimental Medicine, 2015
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema.
Bafunno V et al.
The Journal of Allergy and Clinical Immunology, 2013
Polymorphisms in PARP, IL1B, IL4, IL10, C1INH, DEFB1, and DEFA4 in meningococcal disease in three populations.
Emonts M et al.
Shock (augusta, Ga.), 2010
Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.
Park KH et al.
Molecular Vision, 2009
Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.
Ennis S et al.
Lancet (london, England), 2008
The SERPING1 gene and age-related macular degeneration.
Klaver CC et al.
Lancet (london, England), 2008
Association between nasal carriage of Staphylococcus aureus and the human complement cascade activator serine protease C1 inhibitor (C1INH) valine vs. methionine polymorphism at amino acid position 480.
Emonts M et al.
Fems Immunology and Medical Microbiology, 2007
Type II hereditary angioedema: presenting as food allergy.
Williams Y et al.
Digestive Diseases and Sciences, 2007