Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous Diseases.
作者信息
Cleaver James E
机构信息
University of California, San Francisco (UCSF) Cancer Center, University of California, San Francisco, CA, USA.
出版信息
Curr Med Lit Dermatol. 2008;13(2):41-48.
Abstract
摘要
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本文引用的文献
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Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging.科凯恩综合征和着色性干皮病基本缺陷的临床意义以及导致癌症、神经退行性变和衰老的DNA损伤。
Mech Ageing Dev. 2008 Jul-Aug;129(7-8):492-7. doi: 10.1016/j.mad.2008.01.005. Epub 2008 Feb 3.
2
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.西欧DNA修复缺陷疾病的发病率：着色性干皮病、科凯恩综合征和毛发硫营养不良。
DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10.
3
Multiplex amplification of large sets of human exons.大量人类外显子的多重扩增。
Nat Methods. 2007 Nov;4(11):931-6. doi: 10.1038/nmeth1110. Epub 2007 Oct 14.
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Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.76例高危妊娠中着色性干皮病和毛发硫营养不良的产前诊断
Prenat Diagn. 2007 Dec;27(12):1133-7. doi: 10.1002/pd.1849.
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p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response.在决定细胞对紫外线DNA损伤的反应时，p53抑制作用超过了DNA聚合酶η缺陷的影响。
DNA Repair (Amst). 2007 Dec 1;6(12):1794-804. doi: 10.1016/j.dnarep.2007.07.005. Epub 2007 Sep 5.
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RETRACTED: Sealing of chromosomal DNA nicks during nucleotide excision repair requires XRCC1 and DNA ligase III alpha in a cell-cycle-specific manner.撤回：核苷酸切除修复过程中染色体DNA切口的封闭以细胞周期特异性方式需要XRCC1和DNA连接酶IIIα。
Mol Cell. 2007 Jul 20;27(2):311-323. doi: 10.1016/j.molcel.2007.06.014.
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Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage.XPB解旋酶对紫外线诱导的DNA损伤位点处核苷酸切除修复蛋白募集和重新分布的影响。
DNA Repair (Amst). 2007 Sep 1;6(9):1359-70. doi: 10.1016/j.dnarep.2007.03.025. Epub 2007 May 16.
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Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.TFIIH的XPB/p52和XPD/p44亚复合物在核苷酸切除修复过程中打开受损DNA时的不同作用。
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First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.首例人类ERCC1缺陷患者患有脑-眼-面-骨骼综合征，核苷酸切除修复存在轻度缺陷且伴有严重发育障碍。
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A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.在一名被诊断为着色性干皮病患者的存档材料中检测到一种新型XPC致病变体：病例报告及XPC中报道的基因变体综述
DNA Repair (Amst). 2007 Jan 4;6(1):100-14. doi: 10.1016/j.dnarep.2006.09.008. Epub 2006 Oct 31.
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