Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
H Grombirikova, V Bily, P Soucek, M Kramarek… - Journal of Clinical …, 2023 - Springer
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-
threatening condition characterized by recurrent localized edema. We conducted a …
threatening condition characterized by recurrent localized edema. We conducted a …
[HTML][HTML] Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses
Z Ren, S Zhao, T Li, HJ Wedner, JP Atkinson - Journal of Allergy and …, 2023 - Elsevier
Background The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are …
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are …
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema
MI Iuraşcu, Z Balla, C Pereira, N Andrási… - Clinical and …, 2023 - Wiley Online Library
Background Hereditary angioedema (HAE) with C1‐inhibitor deficiency (C1‐INH‐HAE) is a
rare disease caused by low level (type I) or dysfunction (type II) of the C1‐inhibitor protein …
rare disease caused by low level (type I) or dysfunction (type II) of the C1‐inhibitor protein …
[HTML][HTML] Complex analysis of the national Hereditary angioedema cohort in Slovakia–Identification of 12 novel variants in SERPING1 gene
A Markocsy, K Hrubiskova, M Hrubisko… - World Allergy …, 2024 - Elsevier
Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease
characterised by acute episodes of non-pruritic skin and submucosal swelling caused by …
characterised by acute episodes of non-pruritic skin and submucosal swelling caused by …
Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients
M Rozevska, A Kanepa, S Purina, L Gailite… - Allergy, Asthma & …, 2024 - Springer
Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific
symptoms and overlapping conditions. This study focuses on the genetic basis of HAE …
symptoms and overlapping conditions. This study focuses on the genetic basis of HAE …
Inter-α-trypsin inhibitor heavy chain 4 (ITIH4) as a compensatory protease inhibitor in hereditary angioedema
A Troldborg, Z Godnic-Polai, L Cervenak… - Journal of Allergy and …, 2024 - Elsevier
Background Hereditary angioedema (HAE) is a genetic disorder that manifests as recurrent
angioedema attacks, most frequently due to absent or reduced C1 inhibitor (C1INH) activity …
angioedema attacks, most frequently due to absent or reduced C1 inhibitor (C1INH) activity …
Hereditäres Angioödem durch C1-Inhibitor-Mangel, eine nationale Versorgungsleitlinie
W Aberer, S Altrichter, U Cerpes, T Hawranek… - Wiener klinische …, 2023 - Springer
Das hereditäre Angioödem (HAE) ist eine seltene, schmerzhafte, behindernde und
potenziell tödliche Erkrankung, bei der eine frühzeitige Diagnose und wirksame Therapie …
potenziell tödliche Erkrankung, bei der eine frühzeitige Diagnose und wirksame Therapie …