Citations for
1MPO, SERPING1
Inhibition of Myeloperoxidase Activity in Cystic Fibrosis Sputum by Peptide Inhibitor of Complement C1 (PIC1).
Hair PS, Sass LA, Krishna NK, Cunnion KM.
PLoS One 12(1):e0170203. doi: 10.1371/journal.pone.0170203. eCollection 2017. 2017
2HAE1, SERPING1
The role of the complement system in hereditary angioedema.
Csuka D, Veszeli N, Varga L, Prohászka Z, Farkas H.
Mol Immunol 89:59-68. doi: 10.1016/j.molimm.2017.05.020. Epub 2017 Jun 7. Review. 2017
3C1S, SERPING1
Polyphosphate is a novel cofactor for regulation of complement by a serpin, C1 inhibitor.
Wijeyewickrema LC, Lameignere E, Hor L, Duncan RC, Shiba T, Travers RJ, Kapopara PR, Lei V, Smith SA, Kim H, Morrissey JH, Pike RN, Conway EM.
Blood 128(13):1766-76. doi: 10.1182/blood-2016-02-699561. Epub 2016 Jun 23. 2016
4HAE1, SERPING1
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Cagini N, Veronez CL, Constantino-Silva RN, Buzolin M, Martin RP, Grumach AS, Velloso LA, Mansour E, Pesquero JB.
Biol Chem 397(4):337-44. doi: 10.1515/hsz-2015-0222. 2016
5SERPING1
Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy.
Liu K, Lai TY, Ma L, Lai FH, Young AL, Brelen ME, Tam PO, Pang CP, Chen LJ.
Sci Rep 5:9424. doi: 10.1038/srep09424. 2015
6HAE1, SERPING1
Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.
Colobran R, Lois S, de la Cruz X, Pujol-Borrell R, Hernández-González M, Guilarte M.
Clin Immunol 150(2):143-8. doi: 10.1016/j.clim.2013.11.013. Epub 2013 Dec 4. 2014
7HAE1, SERPING1
Hereditary and acquired complement component 1 esterase inhibitor deficiency: a review for the hematologist.
Cicardi M, Johnston DT.
Acta Haematol 127(4):208-20. doi: 10.1159/000336590. Epub 2012 Mar 27. Review. 2012
8SERPING1
Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese.
Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H, Tsujikawa A, Otani A, Saito M, Iida T, Oishi A, Matsuo K, Tajima K, Matsuda F, Yoshimura N.
PLoS One 6(4):e19108. doi: 10.1371/journal.pone.0019108. 2011
9SERPING1
Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese.
Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H, Tsujikawa A, Otani A, Saito M, Iida T, Oishi A, Matsuo K, Tajima K, Matsuda F, Yoshimura N.
PLoS One 6(4):e19108. doi: 10.1371/journal.pone.0019108. 2011
10SERPING1
Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.
Mullins RF, Faidley EA, Daggett HT, Jomary C, Lotery AJ, Stone EM.
Exp Eye Res 89(5):767-73. doi: 10.1016/j.exer.2009.07.001. Epub 2009 Jul 14. 2009
11SERPING1
Anti-vascular permeability of the cleaved reactive center loop within the carboxyl-terminal domain of C1 inhibitor.
Cheng ZD, Liu MY, Chen G, Zhang HM, Qin GJ, Liang G, Liu DX.
Mol Immunol 45(6):1743-51. Epub 2007 Nov 19. 2008
12SERPING1
Suppression of complement regulatory protein C1 inhibitor in vascular endothelial activation by inhibiting vascular cell adhesion molecule-1 action.
Zhang H, Qin G, Liang G, Li J, Chiu I, Barrington RA, Liu D.
Biochem Biophys Res Commun 358(4):1120-7. Epub 2007 May 22. 2007
13SERPING1, HAE1
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez-Trascasa M.
Hum Mutat 26(2):135-44. 2005
14SERPING1
C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR.
Pappalardo E, Zingale LC, Cicardi M.
J Allergy Clin Immunol 114(3):638-44. 2004
15HAE1, SERPING1
Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.
Blanch A, Roche O, Lopez-Granados E, Fontan G, Lopez-Trascasa M.
Hum Mutat 20(5):405-6. 2002
16SERPING1
Hereditary angioedema caused by a point mutation of exon 7 in the C1 inhibitor gene.
Ishii N, et al.
Br J Dermatol 134 : 731-733. 1996
17SERPING1
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema.
Verpy E, et al.
Am J Hum Genet 59 : 308-319. 1996
18SERPING1
A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema.
Ono H, et al.
Hum Genet 98 : 452-453. 1996
19SERPING1
Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema.
Siddique Z, et al.
Hum Hered 45 : 98-102. 1995
20SERPING1
Unique C1 inhibitor dysfunction in a kindred without angioedema. Identification of an Ala443-Val substitution and functional analysis of the recombinant.
Zahedi R, et al.
J Clin Invest 95 : 1299-1305. 1995
21SERPING1
Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema.
Bissler JJ, et al.
Hum Genet 93 : 265-269. 1994
22SERPING1
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
Bissler JJ, et al.
Proc Natl Acad Sci U S A 91 : 9622-9625. 1994
23SERPING1
A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema.
Ariga T, et al.
Clin Immunol Immunopathol 69 : 103-105. 1993
24SERPING1
A point mutation in the C1-inhibitor gene causes type-1 hereditary angioedema.
Siddique Z, et al.
Hum Hered 43 : 155-158. 1993
25SERPING1
C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.
Siddique Z, et al.
Hum Genet 92 : 189-190. 1993
26SERPING1
A single base deletion from the C1-inhibitor gene causes type 1 hereditary angio-oedema.
Siddique Z, et al.
Hum Hered 42 : 231-234. 1992
27SERPING1
Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region.
Siddique Z, et al.
Hum Hered 42 : 298-301. 1992
28SERPING1
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.
Frangi D, et al.
J Clin Invest 88 : 755-759. 1991
29SERPING1
Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioderma patients.
Stoppa-Lyonnet D, et al.
Am J Hum Genet 49 : 1055-1062. 1991
30SERPING1
An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.
Siddique Z, et al.
Hum Genet 88 : 231-232. 1991
31SERPING1
Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.
Theriault A, et al.
Hum Genet 84 : 477-479. 1990
32SERPING1
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, et al.
Proc Natl Acad Sci U S A 87 : 265-268. 1990
33SERPING1
Identification of a new P1 residue mutation (444Arg-Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedemaplasma.
Aulak KS, et al.
FEBS Lett 266 : 13-16. 1990
34SERPING1
Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene.
Ariga T, et al.
Genomics 8 : 607-613. 1990
35SERPING1
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 87(4):1551-5. 1990
36SERPING1
KpnI RFLP in the 3' flanking region of the C1 inhibitor gene.
McPhaden AR, et al.
Nucleic Acids Res 17 : 4912. 1989
37SERPING1
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.
Ariga T, et al.
J Clin Invest 83 : 1888-1893. 1989
38SERPING1
Regional chromosomal assignment of the human C1 inhibitor gene to 11q11-q13.1.
Theriault A, et al.
(HGM10) Cytogenet Cell Genet 51 : 1089. 1989
39SERPING1
Altered C1 inhibitor genes in type I hereditary angioedema.
Stoppa-Lyonnet D, et al.
N Engl J Med 317 : 1-6. 1987
40SERPING1
The human C1 inhibitor gene (C1NH) is located at 11q12-q13.1.
Fukushima Y, et al.
(HGM9) Cytogenet Cell Genet 46 : 617. 1987
41SERPING1
Human C1 inhibitor : Primary structure, cDNA cloning, and chromosomal localization.
Bock SC, et al.
Biochemistry 25 : 4292-4301. 1986
42SERPING1, C1R, C1S
Assignment of the human complement C1r and C1s genes to chromosome 12 and of human C1-esterase inhibitor gene to chromosome 11.
Cohen-Haguenauer O, et al.
7th Int Congr Hum Genet II : 617. 1986
43SERPING1
Human inhibitor of the first component of complement, C1 : Characterization of cDNA clones and localization of the gene to chromosome 11.
Davis AE, et al.
Proc Natl Acad Sci U S A 83 : 3161-3165. 1986