Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
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着色性干皮病和科凯恩综合征：重叠的临床和生化表型。
DOI：
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发表时间：
1992
影响因子：
9.8
通讯作者：
William A. Horton
中科院分区：
文献类型：
--
作者：
G. A. Greenhaw;Adelaide A. Hebert;M. E. Duke;Ian J. Butler;J. T. Hecht;J. Cleaver;G. Thomas;William A. Horton
描述了两个兄弟姐妹，其皮肤光敏性和中枢神经系统功能障碍的临床表现强烈地让人联想到着色性干皮病的DeSanctis-Cacchione综合征（DCS）变体。广泛的临床评价支持DCS的诊断，并记录了以前未报告的结果。体外成纤维细胞研究表明，紫外线敏感性是正常对照的两到三倍。然而，既没有发现指示XP的紫外线照射后DNA切除修复缺陷，也没有发现指示XP变体的半保留DNA复制缺陷，而是观察到紫外线照射后RNA合成未能恢复到正常水平，这是科凯恩综合征（CS）中出现的生化异常，科凯恩综合征是临床上具有紫外线敏感性的过早衰老综合征之一。因此，这些患者在临床上患有XP，但其生化特征提示CS。鉴于相对轻度的皮肤异常，重度神经系统疾病的原因尚不清楚。文献中还提到了其他成纤维细胞对辐射反应异常的病例，沿着我们患者的数据，强化了DNA维持和修复复杂性的概念。
Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair.
在差异竞争杂交策略中使用 cDNA 文库进行基因克隆：应用于克隆 XP-A 相关基因。
DOI：
10.1089/dna.1.1988.7.563
发表时间：
1988
期刊：
DNA (Mary Ann Liebert, Inc.)
影响因子：
--
作者：
Rinaldy,A;Dodson,ML;Darling,TL;Lloyd,RS
通讯作者：
Lloyd,RS
用人类基因组 DNA 克隆转化后，着色性干皮病 A 组细胞的抗紫外线能力增强。
DOI：
10.1073/pnas.87.17.6818
发表时间：
1990
影响因子：
11.1
作者：
Rinaldy,A;Bellew,T;Egli,E;Lloyd,RS
通讯作者：
Lloyd,RS