Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.K330E
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PLG

NM_000301.5:p.K330E

Associated Papers

Management of hereditary angioedema with normal C1Inh: a series of 163 French patients.

Bocquet A et al.

Orphanet Journal of Rare Diseases, 2025

C1 inhibitor: from complement system to bradykinin angioedema.

Defendi F et al.

Current Opinion in Immunology, 2025

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

Hypertension risk in patients having hereditary angioedema with plasminogen gene mutation K330E.

Bork K et al.

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

[A CASE OF HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR (HEREDITARY ANGIOEDEMA TYPE III) WITH A PATHOGENIC VARIANT IN THE PLG GENE].

Sugimoto H et al.

Arerugi = [allergy], 2025

A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment.

Lochbaum R et al.

The Journal of Dermatological Treatment, 2024

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Petersen RS et al.

Seminars in Thrombosis and Hemostasis, 2024

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Vincent D et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.

Brito-Robinson T et al.

Frontiers in Cardiovascular Medicine, 2024

Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.

Bork K et al.

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

Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Lyons JJ et al.

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

A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.

Yakushiji H et al.

Internal Medicine (tokyo, Japan), 2023

Hereditary angio-oedema with normal C1-INH, developing recurrent acute abdomen after taking low-dose oestrogen-progestin: A case report.

Nakayama T et al.

Modern Rheumatology Case Reports, 2023

Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor.

Jones D et al.

Journal of Asthma and Allergy, 2023

Hereditary angioedema in children and adolescents.

Mansour E et al.

Allergologia Et Immunopathologia, 2022

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

Drouet C et al.

Frontiers in Allergy, 2022

Mutant plasminogen in hereditary angioedema is bypassing FXII/kallikrein to generate bradykinin.

Hintze S et al.

Frontiers in Physiology, 2022

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Hashimura C et al.

Allergy, 2021

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

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

Screening for Plasminogen Mutations in Hereditary Angioedema Patients.

Farkas H et al.

Genes, 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

[Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level].

Emelyanov AV et al.

Terapevticheskii Arkhiv, 2020

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

Plasminogen glycoforms alteration and activation susceptibility associated with the missense variant p.Lys330Glu in HAE-PLG patients.

Parsopoulou F et al.

Allergy, 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

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.

Bork K et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020

Bork K et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020

An update on the genetics and pathogenesis of hereditary angioedema.

Banday AZ et al.

Genes & Diseases, 2020

Measurement of Bradykinin Formation and Degradation in Blood Plasma: Relevance for Acquired Angioedema Associated With Angiotensin Converting Enzyme Inhibition and for Hereditary Angioedema Due to Factor XII or Plasminogen Gene Variants.

Marceau F et al.

Frontiers in Medicine, 2020

Hereditary angioedema: Looking for bradykinin production and triggers of vascular permeability.

Margaglione M et al.

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

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.

Recke A et al.

Clinical and Translational Allergy, 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

Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: Three additional French families.

Belbézier A et al.

Allergy, 2018

On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema.

Germenis AE et al.

Allergy, 2018

A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor.

Dewald G

Biochemical and Biophysical Research Communications, 2018

Hereditary angioedema with a mutation in the plasminogen gene.

Bork K et al.

Allergy, 2018

[Biochemical diagnosis of hereditary hyperlipoproteinemias].

Tvorogova MG et al.

Terapevticheskii Arkhiv, 1998

[Difficulties in the diagnosis of hereditary familial amyloidosis].

Anokhin IM et al.

Terapevticheskii Arkhiv, 1995

[A case of hereditary angioneurotic edema provoked by functional insufficiency of C1-inactivator].

Didkovskiĭ NA et al.

Terapevticheskii Arkhiv, 1989

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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."