国际皮肤性病学杂志    2002 28 (6): 362-364   ISSN: 2096-5540  CN: 32-1880/R   角蛋白簇与遗传性皮肤病 张正华, 刘维达 中国医学科学院、中国协和医科大学皮肤病研究所, 南京210042 收稿日期 2002-01-10  修回日期 null  网络版发布日期 null 参考文献  [1] Yu J, Yu DW, Checkla DM, et al. Human hair keratins. J Invest Dermatol, 1993, 101 (1 Suppl):S56-S59. [2] Rothnagel JA, Dominey AM, Dempsey LD, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science,1992, 257 (5073):1128-1130. [3] Olaisen B, Gedde-Dahl T Jr. GPT-epidermolysis bullosa simplex (EBS Ogna) linkage in man. Hum Hered, 1973, 23 (3):189-196. [4] Bonifas JM, Rothman AL, Epstein EH Jr. Epidermolysis bullosa simplex:evidence in two families for keratin gene abnormalities. Science,1991, 254(5035):1202-1205. [5] Reis A, Hennies HC, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet, 1994, [6] (2):174-179.6.Kimonis V, DiGiovanna J J, Yang JM, et al. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.J Invest Dermatol, 1994, 103(6):764-769. [7] Shamsher MK, Navsaria HA, Stevens HP,et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet, 1995, 4(10):1875-1881. [8] yon Brevern M, Hollstein MC, Risk JM, et al. Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q. Oncogene, 1998, 17(16):2101-2105. [9] Warren SJ, Lin MS, Giudice GJ, et al. The prevalence of antibodies against desmoglein 1 in endemic pemphigus foliaceus in Brazil. Cooperative Group on Fogo Selvagem Research. N Engl J Med, 2000, 343(1):23-30. [10] Oursler JR, Labib RS, Ariss-Abdo L,et al. Human autoantibodies against desmoplakins in paraneoplastic pemphigus. J Clin Invest,1992, 89(6):1775-1782. [11] Hart TC, Hart PS, Bowden DW,et al. Mutations of the cathepsin Cgene are responsible for Papillon-Lefevre syndrome. J Med Genet,1999, 36(12):881-887. [12] Hart TC, Hart PS, Michalec MD,et al. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. J Med Genet, 2000, 37(2):88-94. [13] Heathcote K, Syrris P, Carter ND, et al. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med G enet, 2000, 37(1):50-51. [14] Sakuntabhai A, Ruiz-Perez V, Carter S, et al. Mutations in ATP2A2,encoding a Ca2 + pump, cause Darier disease. Nat Genet, 1999, 21(3):271-277. [15] Richard G, De Laurenzi V, Didona B, et al. Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. Nat Genet, 1995, 11 (4):453-455. [16] Lamartine J, Munhoz Essenfelder G, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet, 2000, 26 (2):142-144. [17] Whittock NV, Coleman CM, McLean WH, et al. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol, 2000, 115(4):694-698. [18] Winter H, Clark RD, Tarras-Wahlberg C,et al. Monilethrix:a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type Ⅱ hair keratin hHb6. J Invest Dermatol, 1999, 113 (2):263-266. [19] Smith FJ, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet, 1998, 7 (7):1143-1148. [20] Rao KS, Babu KK, Gupta PD. Keratins and skin disorders. Cell Biol Int, 1996, 20(4):261-274. 通讯作者: