Associated Papers
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H et al.
Journal of Clinical Immunology, 2023
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.
Iuraşcu MI et al.
Clinical and Translational Allergy, 2023
A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene.
Hida T et al.
The Journal of Dermatology, 2023
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Ballonová L et al.
Frontiers in Genetics, 2023
37470035 (PubMed )
Supplement: Table1.XLSX › Table_S1_patient_classification
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.
Szabó E et al.
Frontiers in Allergy, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C et al.
Frontiers in Allergy, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 1_Supplementary_table_S1.xlsx › Suppl_tab_1
Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.
Germenis AE et al.
Clinical Reviews in Allergy & Immunology, 2021
The Genetics of Hereditary Angioedema: A Review.
Santacroce R et al.
Journal of Clinical Medicine, 2021
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
Germenis AE et al.
Journal of Clinical Immunology, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.
Hujová P et al.
Journal of Clinical Immunology, 2020
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