1 | MPO, 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
|
2 | HAE1, 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
|
3 | C1S, 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
|
4 | HAE1, 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
|
5 | SERPING1
|
| 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
|
6 | HAE1, 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
|
7 | HAE1, 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
|
8 | SERPING1
|
| 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
|
9 | SERPING1
|
| 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
|
10 | SERPING1
|
| 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
|
11 | SERPING1
|
| 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
|
12 | SERPING1
|
| 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
|
13 | SERPING1, 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
|
14 | SERPING1
|
| 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
|
15 | HAE1, 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
|
16 | SERPING1
|
| 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
|
17 | SERPING1
|
| 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
|
18 | SERPING1
|
| 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
|
19 | SERPING1
|
| 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
|
20 | SERPING1
|
| 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
|
21 | SERPING1
|
| Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema.
|
| Bissler JJ, et al.
|
| Hum Genet 93 : 265-269. 1994
|
22 | SERPING1
|
| 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
|
23 | SERPING1
|
| 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
|
24 | SERPING1
|
| A point mutation in the C1-inhibitor gene causes type-1 hereditary angioedema.
|
| Siddique Z, et al.
|
| Hum Hered 43 : 155-158. 1993
|
25 | SERPING1
|
| C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.
|
| Siddique Z, et al.
|
| Hum Genet 92 : 189-190. 1993
|
26 | SERPING1
|
| 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
|
27 | SERPING1
|
| 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
|
28 | SERPING1
|
| 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
|
29 | SERPING1
|
| 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
|
30 | SERPING1
|
| 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
|
31 | SERPING1
|
| Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.
|
| Theriault A, et al.
|
| Hum Genet 84 : 477-479. 1990
|
32 | SERPING1
|
| 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
|
33 | SERPING1
|
| 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
|
34 | SERPING1
|
| Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene.
|
| Ariga T, et al.
|
| Genomics 8 : 607-613. 1990
|
35 | SERPING1
|
| 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
|
36 | SERPING1
|
| KpnI RFLP in the 3' flanking region of the C1 inhibitor gene.
|
| McPhaden AR, et al.
|
| Nucleic Acids Res 17 : 4912. 1989
|
37 | SERPING1
|
| 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
|
38 | SERPING1
|
| Regional chromosomal assignment of the human C1 inhibitor gene to 11q11-q13.1.
|
| Theriault A, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1089. 1989
|
39 | SERPING1
|
| Altered C1 inhibitor genes in type I hereditary angioedema.
|
| Stoppa-Lyonnet D, et al.
|
| N Engl J Med 317 : 1-6. 1987
|
40 | SERPING1
|
| The human C1 inhibitor gene (C1NH) is located at 11q12-q13.1.
|
| Fukushima Y, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 617. 1987
|
41 | SERPING1
|
| Human C1 inhibitor : Primary structure, cDNA cloning, and chromosomal localization.
|
| Bock SC, et al.
|
| Biochemistry 25 : 4292-4301. 1986
|
42 | SERPING1, 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
|
43 | SERPING1
|
| 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
|