[HTML][HTML] The genetics of hereditary angioedema: a review
R Santacroce, G D'Andrea, AB Maffione… - Journal of clinical …, 2021 - mdpi.com
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …
[HTML][HTML] SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a
constellation of variants of the SERPING1 gene (n= 809; 1,494 pedigrees), accounting for …
constellation of variants of the SERPING1 gene (n= 809; 1,494 pedigrees), accounting for …
The expanding spectrum of mutations in hereditary angioedema
The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …
(HAE) has increased at a parallel pace with the development of new molecular tools. The …
[HTML][HTML] 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 …
Leveraging genetics for hereditary angioedema: a road map to precision medicine
Biochemical studies performed during the last decades resulted in the development of
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …
Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India
AK Jindal, A Rawat, A Kaur, D Sharma… - Pediatric Allergy and …, 2021 - Wiley Online Library
Background There is paucity of literature on long‐term follow‐up of patients with hereditary
angioedema (HAE) from developing countries. Objective This study was carried out to …
angioedema (HAE) from developing countries. Objective This study was carried out to …
[HTML][HTML] Molecular genetic screening in patients with ACE inhibitor/angiotensin receptor blocker-induced angioedema to explore the role of hereditary angioedema …
Angioedema is a relatively rare but potentially life-threatening adverse reaction to
angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs) …
angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs) …
[HTML][HTML] Analysis of pathogenic pseudoexons reveals novel mechanisms driving cryptic splicing
NP Keegan, SD Wilton, S Fletcher - Frontiers in genetics, 2022 - frontiersin.org
Understanding pre-mRNA splicing is crucial to accurately diagnosing and treating genetic
diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the …
diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the …
[HTML][HTML] Mutation update of SERPING1 related to hereditary angioedema in the Chinese population
X Wang, S Lei, Y Xu, S Liu, Y Zhi - Hereditas, 2022 - Springer
Background Hereditary angioedema (HAE) is a rare disease characterized by recurrent
attacks of severe swellings of the skin and submucosa. More than 900 variants of the …
attacks of severe swellings of the skin and submucosa. More than 900 variants of the …
[HTML][HTML] Introns and their therapeutic applications in biomedical researches
A Haddad-Mashadrizeh, M Mirahmadi… - Iranian Journal of …, 2023 - ncbi.nlm.nih.gov
Evidence Acquisition: In order to fulfill the objectives of this study, the following databases
were searched: Medline, Scopus, Web of Science, EBSCO, Open Access Journals, and …
were searched: Medline, Scopus, Web of Science, EBSCO, Open Access Journals, and …