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名词信息
中 文 名:
科凯恩综合征
英 文 名:
Cockayne syndrome
中文又称:
耳聋侏儒色素性视网膜炎综合征
中文曾称:
名词来源:
所属专业:
眼科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Cockayne syndrome
相关文献:
Cockayne syndrome: Clinical features, model systems and pathways.
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA.
Ageing Res Rev. 2017 Jan;33:3-17. doi: 10.1016/j.arr.2016.08.002. Epub 2016 Aug 6.
PMID:27507608
Xeroderma pigmentosum-Cockayne syndrome complex.
Natale V, Raquer H.
Orphanet J Rare Dis. 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2.
PMID:28376890
[Cockayne Syndrome].
Moriwaki S.
Brain Nerve. 2019 Apr;71(4):390-393. doi: 10.11477/mf.1416201282.
PMID:30988227
Cockayne Syndrome Group B (CSB): The Regulatory Framework Governing the Multifunctional Protein and Its Plausible Role in Cancer.
Spyropoulou Z, Papaspyropoulos A, Lagopati N, Myrianthopoulos V, Georgakilas AG, Fousteri M, Kotsinas A, Gorgoulis VG.
Cells. 2021 Apr 10;10(4):866. doi: 10.3390/cells10040866.
PMID:33920220
Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy.
Walker JR, Zhu XD.
Int J Mol Sci. 2022 Sep 6;23(18):10212. doi: 10.3390/ijms231810212.
PMID:36142121
Xeroderma pigmentosum-Cockayne syndrome complex.
Dev N, Aggarwal P.
Indian J Med Res. 2020 Nov;152(Suppl 1):S74-S75. doi: 10.4103/ijmr.IJMR_2097_19.
PMID:35345132
Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.
Zhang X, Xu J, Hu J, Zhang S, Hao Y, Zhang D, Qian H, Wang D, Fu XD.
Nat Commun. 2024 Jul 17;15(1):6031. doi: 10.1038/s41467-024-50298-w.
PMID:39019869
Cockayne syndrome and xeroderma pigmentosum.
Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH.
Neurology. 2000 Nov 28;55(10):1442-9. doi: 10.1212/wnl.55.10.1442.
PMID:11185579
Cockayne syndrome pathogenesis: lessons from mouse models.
Jaarsma D, van der Pluijm I, van der Horst GT, Hoeijmakers JH.
Mech Ageing Dev. 2013 May-Jun;134(5-6):180-95. doi: 10.1016/j.mad.2013.04.003. Epub 2013 Apr 13.
PMID:23591128
Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.
Duong NT, Dinh TH, Möhl BS, Hintze S, Quynh DH, Ha DTT, Ngoc ND, Dung VC, Miyake N, Hai NV, Matsumoto N, Meinke P.
Aging (Albany NY). 2022 Jun 22;14(13):5299-5310. doi: 10.18632/aging.204139. Epub 2022 Jun 22.
PMID:35748794
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