Literature DB >> 32542751

A myoferlin gain-of-function variant associates with a new type of hereditary angioedema.

Anastasia Ariano1, Maria D'Apolito1, Maria Bova2,3, Francesco Bellanti4, Stefania Loffredo2,5, Giovanna D'Andrea1, Mariano Intrieri6, Angelica Petraroli2,3, Angela Bruna Maffione7, Giuseppe Spadaro2,3, Rosa Santacroce1, Maurizio Margaglione1.   

Abstract

Entities:  

Keywords:  angioedema; basic mechanisms; genetics

Mesh：

Substances：

Year:  2020        PMID： 32542751     DOI： 10.1111/all.14454

Source DB:  PubMed          Journal:  Allergy        ISSN： 0105-4538            Impact factor:   13.146


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  22 in total

1.  Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Authors:  Xue Wang; Shubin Lei; Yingyang Xu; Shuang Liu; Yuxiang Zhi
Journal:  Hereditas       Date:  2022-07-11       Impact factor: 2.595

Review 2.  Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.

Authors:  Jyoti Sharma; Ankur Kumar Jindal; Aaqib Zaffar Banday; Anit Kaur; Amit Rawat; Surjit Singh; Hilary Longhurst
Journal:  Clin Rev Allergy Immunol       Date:  2021-01-14       Impact factor: 8.667

Review 3.  Patient-reported Outcome Measures for Angioedema: A Literature Review.

Authors:  Anna Trier Heiberg Brix; Henrik Balle Boysen; Karsten Weller; Teresa Caballero; Anette Bygum
Journal:  Acta Derm Venereol       Date:  2021-05-19       Impact factor: 3.875

4.  The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.

Authors:  Marcus Maurer; Markus Magerl; Stephen Betschel; Werner Aberer; Ignacio J Ansotegui; Emel Aygören-Pürsün; Aleena Banerji; Noémi-Anna Bara; Isabelle Boccon-Gibod; Konrad Bork; Laurence Bouillet; Henrik Balle Boysen; Nicholas Brodszki; Paula J Busse; Anette Bygum; Teresa Caballero; Mauro Cancian; Anthony J Castaldo; Danny M Cohn; Dorottya Csuka; Henriette Farkas; Mark Gompels; Richard Gower; Anete S Grumach; Guillermo Guidos-Fogelbach; Michihiro Hide; Hye-Ryun Kang; Allen P Kaplan; Constance H Katelaris; Sorena Kiani-Alikhan; Wei-Te Lei; Richard F Lockey; Hilary Longhurst; William Lumry; Andrew MacGinnitie; Alejandro Malbran; Inmaculada Martinez Saguer; Juan José Matta Campos; Alexander Nast; Dinh Nguyen; Sandra A Nieto-Martinez; Ruby Pawankar; Jonathan Peter; Grzegorz Porebski; Nieves Prior; Avner Reshef; Marc Riedl; Bruce Ritchie; Farrukh Rafique Sheikh; William B Smith; Peter J Spaeth; Marcin Stobiecki; Elias Toubi; Lilian Agnes Varga; Karsten Weller; Andrea Zanichelli; Yuxiang Zhi; Bruce Zuraw; Timothy Craig
Journal:  World Allergy Organ J       Date:  2022-04-07       Impact factor: 5.516

5.  A mechanism for hereditary angioedema caused by a lysine 311-to-glutamic acid substitution in plasminogen.

Authors:  S Kent Dickeson; Sunil Kumar; Mao-Fu Sun; Bassem M Mohammed; Dennis R Phillips; James C Whisstock; Adam J Quek; Edward P Feener; Ruby H P Law; David Gailani
Journal:  Blood       Date:  2022-05-05       Impact factor: 25.476

6.  Screening for Plasminogen Mutations in Hereditary Angioedema Patients.

Authors:  Henriette Farkas; Anna Dóczy; Edina Szabó; Lilian Varga; Dorottya Csuka
Journal:  Genes (Basel)       Date:  2021-03-11       Impact factor: 4.096

Review 7.  Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report.

Authors:  Konrad Bork; John T Anderson; Teresa Caballero; Timothy Craig; Douglas T Johnston; H Henry Li; Hilary J Longhurst; Cristine Radojicic; Marc A Riedl
Journal:  Allergy Asthma Clin Immunol       Date:  2021-04-19       Impact factor: 3.406

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

Authors:  Konrad Bork; Thomas Machnig; Karin Wulff; Guenther Witzke; Subhransu Prusty; Jochen Hardt
Journal:  Orphanet J Rare Dis       Date:  2020-10-15       Impact factor: 4.123

Review 9.  The Genetics of Hereditary Angioedema: A Review.

Authors:  Rosa Santacroce; Giovanna D'Andrea; Angela Bruna Maffione; Maurizio Margaglione; Maria d'Apolito
Journal:  J Clin Med       Date:  2021-05-09       Impact factor: 4.241

Review 10.  Biomarkers in Hereditary Angioedema.

Authors:  Grzegorz Porebski; Mateusz Kwitniewski; Avner Reshef
Journal:  Clin Rev Allergy Immunol       Date:  2021-02-09       Impact factor: 8.667
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