Literature DB >> 14569137

The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.

S-A Cumming1, D J Halsall, P W Ewan, D A Lomas.   

Abstract

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Year:  2003        PMID： 14569137      PMCID： PMC1735277          DOI： 10.1136/jmg.40.10.e114

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

Authors:  Angelo Agostoni; Emel Aygören-Pürsün; Karen E Binkley; Alvaro Blanch; Konrad Bork; Laurence Bouillet; Christoph Bucher; Anthony J Castaldo; Marco Cicardi; Alvin E Davis; Caterina De Carolis; Christian Drouet; Christiane Duponchel; Henriette Farkas; Kálmán Fáy; Béla Fekete; Bettina Fischer; Luigi Fontana; George Füst; Roberto Giacomelli; Albrecht Gröner; C Erik Hack; George Harmat; John Jakenfelds; Mathias Juers; Lajos Kalmár; Pál N Kaposi; István Karádi; Arianna Kitzinger; Tímea Kollár; Wolfhart Kreuz; Peter Lakatos; Hilary J Longhurst; Margarita Lopez-Trascasa; Inmaculada Martinez-Saguer; Nicole Monnier; István Nagy; Eva Németh; Erik Waage Nielsen; Jan H Nuijens; Caroline O'grady; Emanuela Pappalardo; Vincenzo Penna; Carlo Perricone; Roberto Perricone; Ursula Rauch; Olga Roche; Eva Rusicke; Peter J Späth; George Szendei; Edit Takács; Attila Tordai; Lennart Truedsson; Lilian Varga; Beáta Visy; Kayla Williams; Andrea Zanichelli; Lorenza Zingale
Journal:  J Allergy Clin Immunol       Date:  2004-09       Impact factor: 10.793

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

Authors:  Fernando Corvillo; María Eugenia de la Morena-Barrio; Carmen Marcos-Bravo; Margarita López-Trascasa; Vicente Vicente; Jonas Emsley; Teresa Caballero; Javier Corral; Alberto López-Lera
Journal:  Front Genet       Date:  2020-09-10       Impact factor: 4.599

3.  Component 1 Inhibitor Missense (Val480Met) Variant Is Associated With Gene Expression and Sepsis Development in Neonatal Lung Disease.

Authors:  Enas F Elngar; Mona A Azzam; Ayman A Gobarah; Eman A Toraih; Manal S Fawzy; Nouran B AbdAllah
Journal:  Front Pediatr       Date:  2022-05-20       Impact factor: 3.569

Review 4.  Genetics of Hereditary Angioedema Revisited.

Authors:  Anastasios E Germenis; Matthaios Speletas
Journal:  Clin Rev Allergy Immunol       Date:  2016-10       Impact factor: 8.667

5.  Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.

Authors:  Matija Rijavec; Peter Korošec; Mira Šilar; Mihaela Zidarn; Jovan Miljković; Mitja Košnik
Journal:  PLoS One       Date:  2013-02-20       Impact factor: 3.240

Review 6.  Disease Severity, Activity, Impact, and Control and How to Assess Them in Patients with Hereditary Angioedema.

Authors:  Anette Bygum; Paula Busse; Teresa Caballero; Marcus Maurer
Journal:  Front Med (Lausanne)       Date:  2017-12-04

7.  A Compound Mutation (c.953C<G and c.49G<A) Aggravates Functional Impairments of C1-INH in Hep G2 Cells.

Authors:  Ying Yang Xu; Yu Xiang Zhi
Journal:  Allergy Asthma Immunol Res       Date:  2018-05       Impact factor: 5.764

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

Authors:  Camila Lopes Veronez; Anne Aabom; Renan Paulo Martin; Rafael Filippelli-Silva; Rozana Fátima Gonçalves; Priscila Nicolicht; Agatha Ribeiro Mendes; Jane Da Silva; Mar Guilarte; Anete Sevciovic Grumach; Eli Mansour; Anette Bygum; João Bosco Pesquero
Journal:  Front Med (Lausanne)       Date:  2019-02-21

9.  Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).

Authors:  Faidra Parsopoulou; Gedeon Loules; Maria Zamanakou; Dorottya Csuka; Agnes Szilagyi; Maria Kompoti; Grzegorz Porebski; Fotis Psarros; Markus Magerl; Anna Valerieva; Maria Staevska; Krystyna Obtulowicz; Marcus Maurer; Matthaios Speletas; Henriette Farkas; Anastasios E Germenis
Journal:  Front Allergy       Date:  2022-07-07

10.  Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.

Authors:  Kyu Hyung Park; Euijung Ryu; Nirubol Tosakulwong; Yanhong Wu; Albert O Edwards
Journal:  Mol Vis       Date:  2009-01-23       Impact factor: 2.367
  10 in total

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