PubMed for id: 1890264237

Year	Number of Results
1993	1
1995	1
1996	2
1997	1
2000	1
2019	1
2021	1
2022	2
2024	2

1

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Liu MW, Hu CF, Jin JY, Xiang R, Fan LL, Li YL, Zhu L. Liu MW, et al. Mol Biol Rep. 2024 Feb 27;51(1):371. doi: 10.1007/s11033-024-09235-9. Mol Biol Rep. 2024. PMID: 38411728

2

Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.

Sabharwal A, Gupta V, Kv S, Kumar Manokaran R, Verma A, Mishra A, Bhoyar RC, Jain A, Sivadas A, Rawat S, Jolly B, Mohanty S, Gulati S, Gupta N, Kabra M, Scaria V, Sivasubbu S. Sabharwal A, et al. Mitochondrion. 2024 Mar;75:101844. doi: 10.1016/j.mito.2024.101844. Epub 2024 Jan 17. Mitochondrion. 2024. PMID: 38237647

3

Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.

Hao XD, Yao YZ, Xu KG, Dong B, Xu WH, Zhang JJ. Hao XD, et al. Invest Ophthalmol Vis Sci. 2022 Dec 1;63(13):1. doi: 10.1167/iovs.63.13.1. Invest Ophthalmol Vis Sci. 2022. PMID: 36454558 Free PMC article.

4

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.

Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J, Raja GK. Gauhar Z, et al. Cells. 2022 Sep 30;11(19):3090. doi: 10.3390/cells11193090. Cells. 2022. PMID: 36231052 Free PMC article.

5

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.

Lanzafame M, Branca G, Landi C, Qiang M, Vaz B, Nardo T, Ferri D, Mura M, Iben S, Stefanini M, Peverali FA, Bini L, Orioli D. Lanzafame M, et al. Nucleic Acids Res. 2021 Nov 8;49(19):10911-10930. doi: 10.1093/nar/gkab819. Nucleic Acids Res. 2021. PMID: 34581821 Free PMC article.

6

Cockayne Syndrome.

Laugel V. Laugel V. 2000 Dec 28 [updated 2019 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Dec 28 [updated 2019 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301516 Free Books & Documents. Review.

7

Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II.

Selby CP, Sancar A. Selby CP, et al. J Biol Chem. 1997 Jan 17;272(3):1885-90. doi: 10.1074/jbc.272.3.1885. J Biol Chem. 1997. PMID: 8999876 Free article.

8

UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.

Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL. Bregman DB, et al. Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11586-90. doi: 10.1073/pnas.93.21.11586. Proc Natl Acad Sci U S A. 1996. PMID: 8876179 Free PMC article.

9

Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.

Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T, Nikaido O, Friedberg EC, Yamaizumi M. Itoh T, et al. Mutat Res. 1996 Feb 15;362(2):167-74. doi: 10.1016/0921-8777(95)00046-1. Mutat Res. 1996. PMID: 8596535

10

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.

Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC. Henning KA, et al. Cell. 1995 Aug 25;82(4):555-64. doi: 10.1016/0092-8674(95)90028-4. Cell. 1995. PMID: 7664335 Free article.

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