1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K et al.. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs.. Nat Genet, 36 (1): (40-5). [PMID:14702039] [10.1021/op500134e] |
2. Bock SC, Skriver K, Nielsen E, Thøgersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E, Huber R et al.. (1986) Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.. Biochemistry, 25 (15): (4292-301). [PMID:3756141] [10.1021/op500134e] |
3. Todd D Taylor,Hideki Noguchi,Yasushi Totoki,Atsushi Toyoda,Yoko Kuroki,Ken Dewar,Christine Lloyd,Takehiko Itoh,Tadayuki Takeda,Dae-Won Kim,Xinwei She,Karen F Barlow,Toby Bloom,Elspeth Bruford,Jean L Chang,Christina A Cuomo,Evan Eichler,Michael G FitzGerald,David B Jaffe,Kurt LaButti,Robert Nicol,Hong-Seog Park,Christopher Seaman,Carrie Sougnez,Xiaoping Yang,Andrew R Zimmer,Michael C Zody,Bruce W Birren,Chad Nusbaum,Asao Fujiyama,Masahira Hattori,Jane Rogers,Eric S Lander,Yoshiyuki Sakaki. (2006-03-24) Human chromosome 11 DNA sequence and analysis including novel gene identification.. Nature, 440 ((7083)): (497-500). [PMID:16554811] |
4. Davis, A E AE and 9 more authors.. (1992) C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.. Nature genetics, [PMID:1363816] |
5. Frangi, D D, Aulak, K S KS, Cicardi, M M, Harrison, R A RA and Davis, A E AE.. (1992) A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).. FEBS letters, (13): [PMID:1451784] |
6. Carter, P E PE, Duponchel, C C, Tosi, M M and Fothergill, J E JE.. (1991) Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements.. European journal of biochemistry, (23): [PMID:2026152] |
7. Parad, R B RB, Kramer, J J, Strunk, R C RC, Rosen, F S FS and Davis, A E AE.. (1990) Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:2118657] |
8. Stoppa-Lyonnet, D D, Carter, P E PE, Meo, T T and Tosi, M M.. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:2154751] |
9. Levy, N J NJ, Ramesh, N N, Cicardi, M M, Harrison, R A RA and Davis, A E AE.. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:2296585] |
10. Aulak, K S KS, Cicardi, M M and Harrison, R A RA.. (1990) Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.. FEBS letters, (18): [PMID:2365061] |
11. Tosi, M M, Duponchel, C C, Bourgarel, P P, Colomb, M M and Meo, T T.. (1986) Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily.. Gene, [PMID:3089875] |
12. Aulak, K S KS and 5 more authors.. (1988) Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.. The Biochemical journal, (15): [PMID:3178731] |
13. Carter, P E PE, Dunbar, B B and Fothergill, J E JE.. (1988) Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins.. European journal of biochemistry, (5): [PMID:3267220] |
14. Rauth, G G, Schumacher, G G, Buckel, P P and Müller-Esterl, W W.. (1988) Molecular cloning of the cDNA coding for human C1 inhibitor.. Protein sequences & data analysis, [PMID:3393514] |
15. Davis, A E AE and 6 more authors.. (1986) Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:3458172] |
16. Que, B G BG and Petra, P H PH.. (1986) Isolation and analysis of a cDNA coding for human C1 inhibitor.. Biochemical and biophysical research communications, (13): [PMID:3488058] |
17. and Harrison, R A RA.. (1983) Human C1 inhibitor: improved isolation and preliminary structural characterization.. Biochemistry, (11): [PMID:6416294] |
18. Stein, P E PE and Carrell, R W RW.. (1995) What do dysfunctional serpins tell us about molecular mobility and disease?. Nature structural biology, [PMID:7749926] |
19. Verpy, E E and 6 more authors.. (1995) Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.. The Journal of clinical investigation, [PMID:7814636] |
20. Zahedi, R R, Bissler, J J JJ, Davis, A E AE, Andreadis, C C and Wisnieski, J J JJ.. (1995) Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.. The Journal of clinical investigation, [PMID:7883978] |
21. Davis, A E AE, Bissler, J J JJ and Cicardi, M M.. (1993) Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.. Behring Institute Mitteilungen, [PMID:8172583] |
22. Ocejo-Vinyals, J G JG, Leyva-Cobián, F F and Fernández-Luna, J L JL.. (1995) A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.. Molecular medicine (Cambridge, Mass.), [PMID:8529136] |
23. Verpy, E E and 5 more authors.. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.. American journal of human genetics, [PMID:8755917] |
24. Matsushita, M M, Thiel, S S, Jensenius, J C JC, Terai, I I and Fujita, T T.. (2000) Proteolytic activities of two types of mannose-binding lectin-associated serine protease.. Journal of immunology (Baltimore, Md. : 1950), (1): [PMID:10946292] |
25. Lathem, Wyndham W WW and 6 more authors.. (2002) StcE, a metalloprotease secreted by Escherichia coli O157:H7, specifically cleaves C1 esterase inhibitor.. Molecular microbiology, [PMID:12123444] |
26. Zhang, Hui H, Li, Xiao-Jun XJ, Martin, Daniel B DB and Aebersold, Ruedi R.. (2003) Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.. Nature biotechnology, [PMID:12754519] |
27. Bos, Ineke G A IG and 5 more authors.. (2003) The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.. The Journal of biological chemistry, (8): [PMID:12773530] |
28. Kalmár, Lajos L and 7 more authors.. (2003) Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.. Human mutation, [PMID:14635117] |
29. Bunkenborg, Jakob J, Pilch, Bartosz J BJ, Podtelejnikov, Alexandre V AV and Wiśniewski, Jacek R JR.. (2004) Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.. Proteomics, [PMID:14760718] |
30. Lathem, Wyndham W WW, Bergsbaken, Tessa T and Welch, Rodney A RA.. (2004) Potentiation of C1 esterase inhibitor by StcE, a metalloprotease secreted by Escherichia coli O157:H7.. The Journal of experimental medicine, (19): [PMID:15096536] |
31. Liu, Tao T and 6 more authors.. () Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.. Journal of proteome research, [PMID:16335952] |
32. Kang, H R HR and 7 more authors.. (2006) Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.. Allergy, [PMID:16409206] |
33. Beinrohr, László L and 5 more authors.. (2007) C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease.. The Journal of biological chemistry, (20): [PMID:17488724] |
34. Xu, Y-Y YY and 8 more authors.. (2012) Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.. Allergy, [PMID:22994404] |
35. Bian, Yangyang Y and 9 more authors.. (2014) An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.. Journal of proteomics, (16): [PMID:24275569] |
36. Bafunno, Valeria V and 8 more authors.. (2014) Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.. Annals of human genetics, [PMID:24456027] |