国际皮肤性病学杂志    2006 32 (5): 306-308   ISSN: 2096-5540  CN: 32-1880/R  

遗传性血管性水肿分子遗传学进展
吕红莉, 张学军, 杨森
安徽医科大学皮肤病研究所、安徽医科大学第一附属医院皮肤科, 合肥230022
收稿日期 2006-01-09  修回日期 null  网络版发布日期 null
参考文献  [1] Bork K,Barnstedt SE.Treatment of 193 episodes of laryngeal edema with C1 inhibitor concentrate in patients with hereditary angioedema.Arch Intern Med,2001,161:714-718.
[2] Freiberger T,Kolarova L,Mejstrik P,et al.Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type Ⅰ hereditary angioedema.Hum Mutat,2002,19:461.
[3] Bork K,Bamstedt SE,Koch P,et al.Hereditary angioedema with normal Cl-inhibitor activity in women.Lancet,2000,356:213-217.
[4] Bos IG,Lubbers YT,Roem D,et al.The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain,as revealed by a pathological mutant.J Biol Chem,2003,278:29463-29470.
[5] Roche O,Blanch A,Duponchel C,et al.Hereditary angioedema:the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.Hum Mutat,2005,26:135-144.
[6] Cai S,Davis AE 3rd.Complement regulatory protein C1 inhibitor binds to selectins and interferes with endothelial-leukocyte adhesion.J Immunol,2003,171:4786-4791.
[7] Zhang F,Bries AD,Lang SC,et al.Metabolic alteration of the N-glycan structure of a protein from patients with a heterozygous protein deficiency.Biochim Biophys Acta,2004,1739:43-49.
[8] Petersen SV,Thiel S,Jensen L,et al.Control of the classical and the MBL pathway of complement activation.Mol Immunol,2000,37:803-811.
[9] Jiang H,Wagner E,Zhang H,et al.Complement 1 inhibitor is a regulator of the alternative complement pathway.J Exp Med,2001,194:1609-1616.
[10] Nussberger J,Cugno M,Amstutz C,et al.Plasma bradykinin in angio-oedema.Lancet,1998,351:1693-1697.
[11] Mahdi F,Shariat-Madar Z,Todd RF 3rd,et al.Expression and colocalization of cytokeratin 1 and urokinase plasminogen activator receptor on endothelial cells.Blood,2001,97:2342-2350.
[12] Kalmar L,Hegedus T,Farkas H,et al.HAEdb:a novel interactive,locus-specific mutation database for the C1 inhibitor gene.Hum Mutat,2005,25:1-5.
[13] Bowen B,Hawk JJ,Sibunka S,et al.A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.Clin Immunol,2001,98:157-163.
[14] Blanch A,Roche O,Lopez-Granados E,et al.Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema:evidence for 10 novel mutations.Hum Mutat,2002,20:405-406.
[15] Kalmar L,Bors A,Farkas H,et al.Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.Hum Mutat,2003,22:498.
[16] Sekijima Y,Hashimoto T,Kawachi Y,et al.A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type Ⅰ hereditary angioedema.Intern Med,2004,43:253-255.
[17] Han ED,MacFarlane RC,Mulligan AN,et al.Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor.J Clin Invest,2002,109:1057-1063.
[18] Han Lee ED,Pappalardo E,Scafidi J,et al.Approaches toward reversal of increased vascular permeability in C1 inhibitor deficient mice.Immunol Lett,2003,89:155-160.

通讯作者: