Varaico: Literature-Extracted Genetic Variants

Gene:ANGPT1
Variant:p.A119S
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ANGPT1

NM_001146.5:p.A119S

Associated Papers

Insights From the First 820 Patients From the Brazilian Multicenter Registry of Hereditary Angioedema: The Key Role of Genetic Testing and Targeted Therapies.

Ferriani MPL et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Lyons JJ et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Mechanisms involved in hereditary angioedema with normal C1-inhibitor activity.

Shamanaev A et al.

Frontiers in Physiology, 2023

Genome-Wide Association Study Identifies Candidate Loci Associated with Opioid Analgesic Requirements in the Treatment of Cancer Pain.

Nishizawa D et al.

Cancers, 2022

Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.

Sharma J et al.

Clinical Reviews in Allergy & Immunology, 2021

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

Pathophysiology and underlying mechanisms in hereditary angioedema.

López Lera A

Balkan Medical Journal, 2021

Angioedema without wheals: a clinical update.

Gülbahar O

Balkan Medical Journal, 2021

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.

Bork K et al.

Orphanet Journal of Rare Diseases, 2020

Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor.

Bova M et al.

Allergy, 2020

Angioedema without urticaria: novel findings which must be measured in clinical setting.

Veronez CL et al.

Current Opinion in Allergy and Clinical Immunology, 2020

Study of angiopoietin and plasminogen genes in hereditary angioedema.

Kruk T et al.

Revista Da Associacao Medica Brasileira (1992), 2020

An update on the genetics and pathogenesis of hereditary angioedema.

Banday AZ et al.

Genes & Diseases, 2020

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Afzal R et al.

Congenital Anomalies, 2019

[Hereditary angioedema].

Aygören-Pürsün E et al.

Der Internist, 2019

Hereditary Angioedema: Insights into inflammation and allergy.

Maas C et al.

Molecular Immunology, 2019

Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema.

d'Apolito M et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2019

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.

Bodian DL et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019

Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics.

Marcelino-Rodriguez I et al.

Frontiers in Genetics, 2019

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.

Bafunno V et al.

The Journal of Allergy and Clinical Immunology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."