参考文献

国际皮肤性病学杂志 2005 31 (6): 370-372 ISSN: 2096-5540 CN: 32-1880/R



家族性良性天疱疮分子生物学研究新进展
颜潇潇, 张福仁
山东省皮肤病性病防治研究所济南 250022
收稿日期 2005-04-07 修回日期 null 网络版发布日期 null
参考文献 [1] Metze D, Hamm H, Schorat A, et al. Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. J Cutan Pathol, 1996, 23:211-222. [2] Richard G, Korge BP, Wright AR, et al. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. J Invest Dermatol,1995, 105:357-360. [3] Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C 1 encoding a novel Ca (2+) pump.Hum Mol Genet, 2000, 9:1131-1140. [4] Hu Z, Bonifas JM, Beech J,et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet, 2000, 24:61-65. [5] Wei Y, Chen J, Rosas G, et al. Phenotypic screening of mutations in Pmr1, the yeast secretory pathway Ca²⁺/Mn²⁺-ATPase, reveals residues critical for ion selectivity and transport. J Biol Chem, 2000, 275:23927-23932. [6] Ton VK, Mandal D, Vahadji C, et al. Functional expression in yeast of the human secretory pathway Ca²⁺, Mn²⁺-ATPase defective in Hailey-Hailey disease. J Biol Chem, 2002, 277:6422-6427. [7] Behne MJ, Tu CL, Aronchik I,et al. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca²⁺stores. J Invest Dermatol, 2003, 121:688-694. [8] Wuytack F, Raeymaekers L, Missiaen L. PMR1/SPCA Ca²⁺ pumps and the role of the Golgi apparatus as a Ca²⁺ store. Pflugers Arch, 2003, 446:148-153. [9] Callewaert G, Parys JB, De Smedt H, et al. Similar Ca²⁺-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathwgy Ca²⁺-ATPase SPCA1. Cell Calcium, 2003, 34:157-162. [10] Missiaen L, Raeymaekers L, Dode L, et al. SPCA1 pumps and Hai ley-Hailey disease. Biochem Biophys Res Commun, 2004, 322:1204-1213. [11] Van Baelen K, Dode L, Vanoevelen J, et al. The Ca²⁺/Mn²⁺ pumps in the Golgi apparatus. Biochim Biophys Acta, 2004, 1742:103-112. [12] Foggia L, Hovnanian A. Calcium pump disorders of the skin. Am J Med Genet C Semin Med Genet, 2004,131:20-31. [13] Fairclough RJ, Dode L, Vanoevelen J, et al. Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secre tory pathway Ca²⁺/Mn²⁺-ATPase (hSPCA1). J Biol Chem, 2003, 278:24721-24730. [14] Fairclough RJ, Lonie L, Van Baelen K, et al. Hailey-Hailey disease:identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. J Invest Dermatol, 2004, 123:67-71. [15] Wuytack F, Raeymaekers L, Missiaen L. Molecular physiology of the SERCA and SPCA pumps. Cell Calcium, 2002, 32:279-305. [16] Dhitavat J, Fairclough RJ, Hovnanian A,et al. Calcium pumps andkeratinocytes:lessons from Darier's disease and Hailey-Hailey disease. Br J Dermatol, 2004, 150:821-828. [17] Dobson-Stone C, Fairclough R, Dunne E, et al. Hailey-Hailey dis ease:molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol, 2002, 118:338-343. [18] Ikeda S, Shigihara T, Mayuzumi N, et al. Mutations of A TP2C1 in Japanese patients with Hailey-Hailey disease:intrafamilial and in terfamilial phenotype variations and lack of correlation with mutation patterns. J Invest Dermatol, 2001, 117:1654-1656. [19] Aronchik I, Behne MJ, Leypoldt L, et al. Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes. J Invest Dermatol, 2003, 121:681-687.

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