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The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum.

作者信息

Otsuka F, Robbins J H

出版信息

Am J Dermatopathol. 1985 Aug;7(4):387-92. doi: 10.1097/00000372-198508000-00013.

DOI:10.1097/00000372-198508000-00013
PMID:3842793
Abstract
摘要

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1
The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum.科凯恩综合征——一种遗传性多系统疾病，伴有皮肤光敏性和DNA修复缺陷。与着色性干皮病的比较。
Am J Dermatopathol. 1985 Aug;7(4):387-92. doi: 10.1097/00000372-198508000-00013.
2
Cross-sensitivity of certain xeroderma pigmentosum and Cockayne syndrome fibroblast strains to both ionizing radiation and ultraviolet light.某些着色性干皮病和成骨不全综合征成纤维细胞株对电离辐射和紫外线的交叉敏感性。
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3
DNA repair deficient photodermatoses.DNA修复缺陷型光皮肤病
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Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.着色性干皮病和科凯恩综合征：重叠的临床和生化表型。
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The versatile DNA nucleotide excision repair (NER) and its medical significance.多功能DNA核苷酸切除修复（NER）及其医学意义。
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DNA repair and cancer: speculations based on studies with xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.DNA修复与癌症：基于着色性干皮病、科凯恩综合征和毛发硫营养不良症研究的推测
Carcinogenesis. 1989 Aug;10(8):1353-6. doi: 10.1093/carcin/10.8.1353.
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Non-radioisotope method for diagnosing photosensitive genodermatoses and a new marker for xeroderma pigmentosum variant.诊断光敏性遗传性皮肤病的非放射性同位素方法及着色性干皮病变异型的新标志物。
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Xeroderma pigmentosum--bridging a gap between clinic and laboratory.着色性干皮病——弥合临床与实验室之间的差距
Photodermatol Photoimmunol Photomed. 2001 Apr;17(2):47-54. doi: 10.1034/j.1600-0781.2001.017002047.x.
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Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.着色性干皮病E组与DDB2，一种损伤特异性DNA结合蛋白的较小亚基：关于着色性干皮病、科凯恩综合征和紫外线敏感综合征的分类建议
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A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.紫外线敏感疾病中的突变总结：着色性干皮病、科凯恩综合征和毛发硫营养不良。
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Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.DNA 修复缺陷、早衰和线粒体功能障碍相关疾病的皮肤异常。
J Invest Dermatol. 2021 Apr;141(4S):968-975. doi: 10.1016/j.jid.2020.10.019. Epub 2021 Jan 19.
2
The eye as a window to rare endocrine disorders.眼睛是罕见内分泌疾病的一扇窗口。
Indian J Endocrinol Metab. 2012 May;16(3):331-8. doi: 10.4103/2230-8210.95659.
3
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.
4
Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice.修复缺陷型科凯恩综合征小鼠中凋亡增加、p53上调及小脑神经元变性。
Proc Natl Acad Sci U S A. 2007 Jan 23;104(4):1389-94. doi: 10.1073/pnas.0610619104. Epub 2007 Jan 17.
5
In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients.人核苷酸切除修复系统对氧化性DNA损伤的体外修复：着色性干皮病患者神经退行性变的可能解释。
Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9463-8. doi: 10.1073/pnas.94.17.9463.
6
Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility.科凯恩综合征和色素性干皮病C互补组患者培养细胞中紫外线诱导的染色体畸变：与癌症易感性缺乏相关性。
Am J Hum Genet. 1988 Mar;42(3):468-75.
7
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.着色性干皮病和科凯恩综合征：重叠的临床和生化表型。
Am J Hum Genet. 1992 Apr;50(4):677-89.