国际皮肤性病学杂志    2005 31 (4): 247-249   ISSN: 2096-5540  CN: 32-1880/R   色素失禁症的分子遗传学研究进展 周顺铭, 张学军, 杨森 安徽医科大学皮肤病研究所、第一附属医院皮肤性病科, 合肥230022 收稿日期 2004-09-23  修回日期 null  网络版发布日期 null 参考文献  [1] Jean-Baptiste S, O Toole EA, Chen M, et al. Expression of eotaxin,an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol,2002, 127:470-478. [2] Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol, 2002, 47:169-187. [3] Topham EJ, Simpson Dent SL, Child FJ. Case 1. Incontinentia pigmenti. Clin Exp Dermatol, 2003, 28:103-104. [4] Scardamaglia L, Howard A, Sinclair R. Twenty-nail dystrophy in a girl with incontinentia pigmenti. Australas J Dermatol, 2003,44:71-73. [5] Mayer E J, Shuttleworth GN, Greenhalgh KL, et al. Novel corneal features in two males with incontinentia pigmenti. Br J Ophthalmol,2003, 87:554-556. [6] Cates CA, Dandekar SS, Flanagan DW, et al. Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up. Ophthalmic Genet, 2003, 24:247-252. [7] Porksen G, Pfeiffer C, Hahn G, et al. Neonatal seizures in two sisters with incontinentia pigmenti. Neuropediatrics, 2004, 35:139-142. [8] Jewett T, Hart PS, Rao PN, et al. A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X; autosome translocation. Am J Med Genet, 1997, 69:96-97. [9] Smahi A, Hyden-Granskog C, Peterlin B, et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet,1994, 3:273-278. [10] Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The Intemational Incontinentia Pigmenti (IP) Consortium.Nature, 2000, 405:466-472. [11] Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet,2001, 10:2171-2179. [12] Kenwrick S, Woffendin H, Jakins T, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet,2001,69:1210-1217. [13] Aradhya S, Bardaro T, Galgoczy P, et al. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet, 2001, 10:2557-2567. [14] Rothwarf DM, Zandi E, Natoli G, et al. IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex. Nature, 1998, 395:297-300. [15] DiDonato JA, Hayakawa M, Rothwarf DM, et al. A cytokine-responsive IkappaB kinase that activates the transcription factor NF-kappaB.Nature, 1997, 388:548-554. [16] Smahi A, Courtois G, Rabia SH, et al. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet, 2002,11:2371-2375. [17] May MJ, D'Acquisto F, Madge LA,et al. Selective inhibition of NFkappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex. Science, 2000, 289:1550-1554. [18] Parrish JE, Scheuerle AE, Lewis RA, et al. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet, 1996, 5:1777-1783. [19] Aradhya S, Courtois G, Rajkovic A,et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet, 2001,68:765-771. [20] Makris C, Godfrey VL, Krahn-Senftleben G, et al. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell, 2000, 5:969-979. [21] Rudolph D, Yeh WC, Wakeham A, et al. Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice. Genes Dev, 2000, 14:854-862. [22] Pasparakis M, Courtois G, Hafner M, et al. TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2. Nature, 2002, 417:861-866. [23] Li Q, Lu Q, Hwang JY, et al. IKK1-deficient mice exhibit abnormal development of skin and skeleton. Genes Dev, 1999, 13:1322-1328. 通讯作者: 张学军, E-mail:ayzxj@mail.hf.ah.cn