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 …

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

C Drouet, A López-Lera, A Ghannam… - Frontiers in …, 2022 - frontiersin.org
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 …

The expanding spectrum of mutations in hereditary angioedema

CL Veronez, D Csuka, FR Sheikh, BL Zuraw… - The Journal of Allergy …, 2021 - Elsevier
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 …

Gene variants of coagulation related proteins that interact with SARS-CoV-2

D Holcomb, A Alexaki, N Hernandez… - PLoS computational …, 2021 - journals.plos.org
Thrombosis is a recognized complication of Coronavirus disease of 2019 (COVID-19) and is
often associated with poor prognosis. There is a well-recognized link between coagulation …

Leveraging genetics for hereditary angioedema: a road map to precision medicine

AE Germenis, M Rijavec, CL Veronez - Clinical Reviews in Allergy & …, 2021 - Springer
Biochemical studies performed during the last decades resulted in the development of
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

R Truty, K Ouyang, S Rojahn, S Garcia… - The American Journal of …, 2021 - cell.com
The complexities of gene expression pose challenges for the clinical interpretation of
splicing variants. To better understand splicing variants and their contribution to hereditary …

Molecular genetic screening in patients with ACE inhibitor/angiotensin receptor blocker-induced angioedema to explore the role of hereditary angioedema genes

CM Mathey, C Maj, AB Scheer, J Fazaal, B Wedi… - Frontiers in …, 2022 - frontiersin.org
Angioedema is a relatively rare but potentially life-threatening adverse reaction to
angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs) …

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency

T Miyata, T Horiuchi - Allergology International, 2023 - jstage.jst.go.jp
abstract Hereditary angioedema (HAE) is a rare disorder characterized by cutaneous and
submucosal swelling caused mostly by excessive local bradykinin production. Bradykinin is …

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 …

Overview of SERPING1 variations identified in Hungarian patients with hereditary angioedema

E Szabó, D Csuka, N Andrási, L Varga, H Farkas… - Frontiers in …, 2022 - frontiersin.org
Background Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-
HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable …