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   Variation registry for  Hereditary angioedema


SERPING1base mutation publications

[2009] [2007] [2006] [2005] [2004] [2003] [2002] [2001] [2000] [1998] [1996] [1995] [1994] [1993] [1992] [1991] [1990] [1989] [1988]

Search PubMed latest citations for SERPING1 mutations

    2009

  • Hereditary angioedema in Greek families caused by novel and recurrent mutations.
    Speletas M, Boukas K, Papadopoulou-Alataki E, Tsitsami E, Germenis AE
    Hum Immunol 2009(11): 925-9 [PubMed abstract].

    2007

  • Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.
    Yakushiji Y, Mizuta H, Kurohara K, Onoue H, Okada R, Yoshimura T, Kuroda Y
    Arch Neurol 2007(5): 731-3 [PubMed abstract].

  • Type II hereditary angioedema: presenting as food allergy.
    Williams Y, Byrne G, Lynch S, Feighery C, Abuzakouk M
    Dig Dis Sci 2007(2): 353-6 [PubMed abstract].

  • Paternal mosaicism and hereditary angioedema in a Taiwanese family.
    Yu TC, Shyur SD, Huang LH, Wen DC, Li JS
    Ann Allergy Asthma Immunol 2007(4): 375-9 [PubMed abstract].

    2006

  • Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma.
    Monnier N, Ponard D, Duponchel C, Csopaki F, Bouillet L, Tosi M, Lunardi J, Drouet C
    Mol Immunol 2006(14): 2161-8 [PubMed abstract].

  • First case of homozygous C1 inhibitor deficiency.
    Blanch A, Roche O, Urrutia I, Gamboa P, Fontán G, López-Trascasa M
    J Allergy Clin Immunol 2006(6): 1330-5 [PubMed abstract].

  • Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
    Kang HR, Yim EY, Oh SY, Chang YS, Kim YK, Cho SH, Min KU, Kim YY
    Allergy 2006(2): 260-4 [PubMed abstract].

    2005

  • Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
    Roche O, Blanch A, Duponchel C, Fontán G, Tosi M, López-Trascasa M
    Hum Mutat 2005(2): 135-44 [PubMed abstract].

    2004

  • A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema.
    Sekijima Y, Hashimoto T, Kawachi Y, Koshihara H, Otsuka F, Ikeda S
    Intern Med 2004(3): 253-5 [PubMed abstract].

    2003

  • Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
    Kalmár L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Füst G, Tordai A
    Hum Mutat 2003(6): 498 [PubMed abstract].

  • 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.
    Cumming SA, Halsall DJ, Ewan PW, Lomas DA
    J Med Genet 2003(10): e114 [PubMed abstract].

    2002

  • Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.
    Blanch A, Roche O, López-Granados E, Fontán G, López-Trascasa M
    Hum Mutat 2002(5): 405-6 [PubMed abstract].

  • Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
    Freiberger T, Kolárová L, Mejstrík P, Vyskocilová M, Kuklínek P, Litzman J
    Hum Mutat 2002(4): 461 [PubMed abstract].

    2001

  • Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients.
    Duponchel C, Di Rocco C, Cicardi M, Tosi M
    Hum Mutat 2001(1): 61-70 [PubMed abstract].

  • Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling.
    Sugiyama E, Ozawa T, Taki H, Maruyama M, Yamashita N, Ohta M, Hirata M, Kobayashi M
    Arthritis Rheum 2001(4): 974-7 [PubMed abstract].

  • A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.
    Bowen B, Hawk JJ, Sibunka S, Hovick S, Weiler JM
    Clin Immunol 2001(2): 157-63 [PubMed abstract].

    2000

  • Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema.
    Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M
    J Allergy Clin Immunol 2000(6): 1147-54 [PubMed abstract].

  • Detection of C1 inhibitor mutations in patients with hereditary angioedema.
    Zuraw BL, Herschbach J
    J Allergy Clin Immunol 2000(3): 541-6 [PubMed abstract].

    1998

  • A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema.
    Kawachi Y, Hibi T, Yamazaki S, Otsuka F
    J Invest Dermatol 1998(5): 837-9 [PubMed abstract].

    1996

  • Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
    Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M
    Am J Hum Genet 1996(2): 308-19 [PubMed abstract].

  • A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema.
    Ono H, Kawaguchi H, Ishii N, Nakajima H
    Hum Genet 1996(4): 452-3 [PubMed abstract].

    1995

  • A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
    Ocejo-Vinyals JG, Leyva-Cobián F, Fernández-Luna JL
    Mol Med 1995(6): 700-5 [PubMed abstract].

  • Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
    Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M
    J Clin Invest 1995(1): 350-9 [PubMed abstract].

    1994

  • A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
    Bissler JJ, Cicardi M, Donaldson VH, Gatenby PA, Rosen FS, Sheffer AL, Davis AE
    Proc Natl Acad Sci U S A 1994(20): 9622-5 [PubMed abstract].

  • Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema.
    Bissler JJ, Donaldson VH, Davis AE
    Hum Genet 1994(3): 265-9 [PubMed abstract].

    1993

  • A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema.
    Ariga T, Hoshioka A, Kohno Y, Sakamaki T, Matsumoto S
    Clin Immunol Immunopathol 1993(1): 103-5 [PubMed abstract].

  • C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.
    Siddique Z, McPhaden AR, Whaley K
    Hum Genet 1993(2): 189-90 [PubMed abstract].

    1992

  • A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.
    Siddique Z, McPhaden AR, McCluskey D, Whaley K
    Hum Hered 1992(4): 231-4 [PubMed abstract].

  • C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.
    Davis AE, Aulak K, Parad RB, Stecklein HP, Eldering E, Hack CE, Kramer J, Strunk RC, Bissler J, Rosen FS
    Nat Genet 1992(5): 354-8 [PubMed abstract].

  • A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
    Frangi D, Aulak KS, Cicardi M, Harrison RA, Davis AE
    FEBS Lett 1992(1): 34-6 [PubMed abstract].

    1991

  • Substrate properties of C1 inhibitor Ma (alanine 434----glutamic acid). Genetic and structural evidence suggesting that the P12-region contains critical determinants of serine protease inhibitor/substrate status.
    Skriver K, Wikoff WR, Patston PA, Tausk F, Schapira M, Kaplan AP, Bock SC
    J Biol Chem 1991(14): 9216-21 [PubMed abstract].

  • Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.
    Frangi D, Cicardi M, Sica A, Colotta F, Agostoni A, Davis AE
    J Clin Invest 1991(3): 755-9 [PubMed abstract].

  • Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.
    Stoppa-Lyonnet D, Duponchel C, Meo T, Laurent J, Carter PE, Arala-Chaves M, Cohen JH, Dewald G, Goetz J, Hauptmann G
    Am J Hum Genet 1991(5): 1055-62 [PubMed abstract].

  • An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.
    Siddique Z, McPhaden AR, Lappin DF, Whaley K
    Hum Genet 1991(2): 231-2 [PubMed abstract].

    1990

  • Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.
    Parad RB, Kramer J, Strunk RC, Rosen FS, Davis AE
    Proc Natl Acad Sci U S A 1990(17): 6786-90 [PubMed abstract].

  • Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
    Levy NJ, Ramesh N, Cicardi M, Harrison RA, Davis AE
    Proc Natl Acad Sci U S A 1990(1): 265-8 [PubMed abstract].

  • Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.
    Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M
    Proc Natl Acad Sci U S A 1990(4): 1551-5 [PubMed abstract].

  • Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.
    Aulak KS, Cicardi M, Harrison RA
    FEBS Lett 1990(1-2): 13-6 [PubMed abstract].

  • Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene.
    Ariga T, Carter PE, Davis AE
    Genomics 1990(4): 607-13 [PubMed abstract].

    1989

  • Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.
    Ariga T, Igarashi T, Ramesh N, Parad R, Cicardi M, Davis AE
    J Clin Invest 1989(6): 1888-93 [PubMed abstract].

  • CpG mutations in the reactive site of human C1 inhibitor.
    Skriver K, Radziejewska E, Silbermann JA, Donaldson VH, Bock SC
    J Biol Chem 1989(6): 3066-71 [PubMed abstract].

    1988

  • A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.
    McAdam RA, Goundis D, Reid KB
    Immunogenetics 1988(4): 259-64 [PubMed abstract].