Literature DB >> 2365061

Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

K S Aulak1, M Cicardi, R A Harrison.   

Abstract

A new reactive-centre P1 residue mutation (444Arg----Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC), and represents the first non-histidine, non-cysteine P1 residue mutant described for C1 inhibitor.

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Year:  1990        PMID： 2365061     DOI： 10.1016/0014-5793(90)81494-9

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  7 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.  Rapid and sensitive techniques for identification and analysis of 'reactive-centre' mutants of C1-inhibitor proteins contained in type II hereditary angio-oedema plasmas.

Authors:  K S Aulak; R S Harrison
Journal:  Biochem J       Date:  1990-11-01       Impact factor: 3.857

3.  C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.

Authors:  Z Siddique; A R McPhaden; K Whaley
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

4.  A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.

Authors:  J G Ocejo-Vinyals; F Leyva-Cobián; J L Fernández-Luna
Journal:  Mol Med       Date:  1995-09       Impact factor: 6.354

5.  Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

Authors:  E Verpy; E Couture-Tosi; E Eldering; M Lopez-Trascasa; P Späth; T Meo; M Tosi
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808

6.  Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

Authors:  R Zahedi; J J Bissler; A E Davis; C Andreadis; J J Wisnieski
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

7.  Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.

Authors:  Alejandro Mendoza-Alvarez; Adrián Muñoz-Barrera; Luis Alberto Rubio-Rodríguez; Itahisa Marcelino-Rodriguez; Almudena Corrales; Antonio Iñigo-Campos; Ariel Callero; Eva Perez-Rodriguez; Jose Carlos Garcia-Robaina; Rafaela González-Montelongo; Jose Miguel Lorenzo-Salazar; Carlos Flores
Journal:  J Med Internet Res       Date:  2020-10-09       Impact factor: 5.428
  7 in total

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