Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.T328K
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F12

NM_000505.4:p.T328K

Associated Papers

Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop.

Unknown Author

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026

Real-World Evidence on the Management of Hereditary Angioedema With Normal C1 Inhibitor.

Lobão NTM et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2026

Abdominal Pain Attacks and Angioedema in a Patient With a Homozygous MEFV Mutation: Concurrent FXII Hereditary Angioedema.

Bulut G et al.

Journal of Investigational Allergology & Clinical Immunology, 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

Altered levels of phospholipases C, diacylglycerols, endocannabinoids, and N-acylethanolamines in patients with hereditary angioedema due to FXII mutation.

Ferrara AL et al.

Allergy, 2025

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: Clinical and genetic characterization of 15 Portuguese unrelated families.

Dias de Castro E et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024

A Potentially Fatal Outcome of Oral Contraceptive Therapy: Estrogen-Triggered Hereditary Angioedema in an Adolescent

Balkancı UB et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

A Case Report of Hereditary Angioedema: Challenges in Diagnosis and Management.

Widhani A et al.

Acta Medica Indonesiana, 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

Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.

Tosco-Herrera E et al.

Human Mutation, 2022

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

Drouet C et al.

Frontiers in Allergy, 2022

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).

Mendoza-Alvarez A et al.

Frontiers in Immunology, 2022

High Estrogen States in Hereditary Angioedema: a Spectrum.

Kulkarni M et al.

Clinical Reviews in Allergy & Immunology, 2021

The Genetics of Hereditary Angioedema: A Review.

Santacroce R et al.

Journal of Clinical Medicine, 2021

Periodic Severe Angioedema without Exogenous Hormone Exposure.

Nabavi M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

Short-term Prophylaxis for Delivery in Pregnant Women with Hereditary Angioedema with Normal C1-Inhibitor.

Moraes CGFB et al.

Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 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

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

Veronez CL et al.

Current Opinion in Allergy and Clinical Immunology, 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

The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.

Corvillo F et al.

Frontiers in Genetics, 2020

[Hereditary angioedema].

Aygören-Pürsün E et al.

Der Internist, 2019

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.

Veronez CL et al.

Frontiers in Medicine, 2019

Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review.

Veronez CL et al.

Frontiers in Medicine, 2019

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

Marcelino-Rodriguez I et al.

Frontiers in Genetics, 2019

SERPING1 and F12 combined variants in a hereditary angioedema family.

Charignon D et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2018

Hereditary angioedema with a mutation in the plasminogen gene.

Bork K et al.

Allergy, 2018

The role of the complement system in hereditary angioedema.

Csuka D et al.

Molecular Immunology, 2017

A rare mutation in the F12 gene in a patient with ACE inhibitor-induced angioedema.

Veronez CL et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017

Hereditary angioedema with normal C1 inhibitor in a French cohort: Clinical characteristics and response to treatment with icatibant.

Bouillet L et al.

Immunity, Inflammation and Disease, 2017

Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families.

Piñero-Saavedra M et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2016

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema.

Deroux A et al.

Clinical and Experimental Immunology, 2016

How we manage persons with hereditary angioedema.

Zuraw BL et al.

British Journal of Haematology, 2016

Hereditary angioedema with F12 mutation: first report of three cases associated with immune disorders.

Gallais Sérézal IR et al.

Clinical Medicine (london, England), 2016

Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.

Grumach AS et al.

Allergy, 2016

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

Woon ST et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

First report of a FXII gene mutation in a Brazilian family with hereditary angio-oedema with normal C1 inhibitor.

Stieber C et al.

The British Journal of Dermatology, 2015

Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.

Bork K et al.

Allergy, 2015

Distinct conditions support a novel classification for bradykinin-mediated angio-oedema.

Dessart P et al.

Dermatology (basel, Switzerland), 2015

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.

Moreno AS et al.

International Archives of Allergy and Immunology, 2015

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.

Charignon D et al.

Allergy, 2014

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor.

Bork K et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Current update on cellular and molecular mechanisms of hereditary angioedema.

Walford HH et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2014

Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations.

Bork K et al.

The American Journal of Medicine, 2013

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.

Bork K et al.

Clinical Immunology (orlando, Fla.), 2011

Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III.

Baeza ML et al.

Allergy, 2011

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