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Select item 97284971.

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

Xiao-Dan Hao, Yi-Zhi Yao, Kai-Ge Xu, Bin Dong, Wen-Hua Xu, Jing-Jing Zhang

Invest Ophthalmol Vis Sci. 2022 Dec; 63(13): 1. Published online 2022 Dec 1. doi: 10.1167/iovs.63.13.1

PMCID:: PMC9728497

Abstract Article PDF–2.5M

Select item 95643192.

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

Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja

Cells. 2022 Oct; 11(19): 3090. Published online 2022 Sep 30. doi: 10.3390/cells11193090

PMCID:: PMC9564319

Abstract Article PDF–2.2M

Select item 72168093.

Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome

Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai

Mol Genet Genomic Med. 2020 May; 8(5): e1204. Published online 2020 Mar 11. doi: 10.1002/mgg3.1204

PMCID:: PMC7216809

Abstract Article PDF–859K

Select item 62846454.

Detection and clinical significance of DNA repair gene ERCC8 tag SNPs in gastric cancer

Xingre Lu, Fengyu Chen, Xiaowen Liu, Diao Yuan, Yunju Zi, Xiang He, Deyong Zhu

Turk J Gastroenterol. 2018 Jul; 29(4): 392–396. Published online 2018 May 30. doi: 10.5152/tjg.2018.17662

PMCID:: PMC6284645

Abstract Article PDF–133K

Select item 58914925.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

Audrey Schalk, Géraldine Greff, Nathalie Drouot, Cathy Obringer, Hélène Dollfus, Vincent Laugel, Jamel Chelly, Nadège Calmels

Eur J Hum Genet. 2018 Apr; 26(4): 527–536. Published online 2018 Feb 8. doi: 10.1038/s41431-017-0009-y

PMCID:: PMC5891492

Abstract Article PDF–1.2M

Select item 56517266.

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Xiaozhu Wang, Yu Huang, Ming Yan, Jiuwei Li, Changhong Ding, Hong Jin, Fang Fang, Yanling Yang, Baiyan Wu, Dafang Chen

Sci Rep. 2017; 7: 13686. Published online 2017 Oct 20. doi: 10.1038/s41598-017-14034-3

PMCID:: PMC5651726

Abstract Article PDF–3.2M

Select item 53630647.

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

Hua Xie, Xiaoyan Li, Jiping Peng, Qian Chen, ZhiJie Gao, Xiaozhen Song, WeiYu Li, Jianqiu Xiao, Caihua Li, Ting Zhang, James F. Gusella, Jianmin Zhong, Xiaoli Chen

Sci Rep. 2017; 7: 44271. Published online 2017 Mar 23. doi: 10.1038/srep44271

PMCID:: PMC5363064

Abstract Article PDF–962K

Select item 41116948.

Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth

Sylvia Koch, Omar Garcia Gonzalez, Robin Assfalg, Adrian Schelling, Patrick Schäfer, Karin Scharffetter-Kochanek, Sebastian Iben

Cell Cycle. 2014 Jul 1; 13(13): 2029–2037. Published online 2014 Apr 29. doi: 10.4161/cc.29018

PMCID:: PMC4111694

Abstract Article PDF–1.6M

Select item 11700419.

Cockayne syndrome: defective repair of transcription?

A J van Gool, G T van der Horst, E Citterio, J H Hoeijmakers

EMBO J. 1997 Jul 16; 16(14): 4155–4162. doi: 10.1093/emboj/16.14.4155

PMCID:: PMC1170041

Summary PDF–152K

Select item 3810110.

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

D B Bregman, R Halaban, A J van Gool, K A Henning, E C Friedberg, S L Warren

Proc Natl Acad Sci U S A. 1996 Oct 15; 93(21): 11586–11590. doi: 10.1073/pnas.93.21.11586

PMCID:: PMC38101

Summary Page Browse PDF–1.4M

Select item 830642211.

Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding

Mingyue Qiang, Fatima Khalid, Tamara Phan, Christina Ludwig, Karin Scharffetter-Kochanek, Sebastian Iben

Cells. 2021 Jul; 10(7): 1616. Published online 2021 Jun 28. doi: 10.3390/cells10071616

PMCID:: PMC8306422

Abstract Article PDF–2.1M

Select item 771887512.

Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer

Roxana Moslehi, Hui-Shien Tsao, Nur Zeinomar, Cristy Stagnar, Sean Fitzpatrick, Amiran Dzutsev

Sci Rep. 2020; 10: 21276. Published online 2020 Dec 4. doi: 10.1038/s41598-020-77037-7

PMCID:: PMC7718875

Abstract Article PDF–2.4M

Select item 613190513.

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery

BMC Med Genet. 2018; 19: 161. Published online 2018 Sep 10. doi: 10.1186/s12881-018-0677-7

PMCID:: PMC6131905

Abstract Article PDF–1.1M

Select item 573269414.

Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells

Barbara Pascucci, Mariarosaria D’Errico, Alessandra Romagnoli, Chiara De Nuccio, Miriam Savino, Donatella Pietraforte, Manuela Lanzafame, Angelo Salvatore Calcagnile, Paola Fortini, Sara Baccarini, Donata Orioli, Paolo Degan, Sergio Visentin, Miria Stefanini, Ciro Isidoro, Gian Maria Fimia, Eugenia Dogliotti

Oncotarget. 2017 Nov 28; 8(61): 102852–102867. Published online 2016 Jun 7. doi: 10.18632/oncotarget.9913

PMCID:: PMC5732694

Abstract Article PDF–1.3M

Select item 552213415.

Epistatic SNP interaction of ERCC6 with ERCC8 and their joint protein expression contribute to gastric cancer/atrophic gastritis risk

Jing-Jing Jing, You-Zhu Lu, Li-Ping Sun, Jing-Wei Liu, Yue-Hua Gong, Qian Xu, Nan-Nan Dong, Yuan Yuan

Oncotarget. 2017 Jun 27; 8(26): 43140–43152. Published online 2017 May 11. doi: 10.18632/oncotarget.17814

PMCID:: PMC5522134

Abstract Article PDF–3.5M

Select item 509867416.

Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA

Morten Scheibye-Knudsen, Anne Tseng, Martin Borch Jensen, Karsten Scheibye-Alsing, Evandro Fei Fang, Teruaki Iyama, Sanjay Kumar Bharti, Krisztina Marosi, Lynn Froetscher, Henok Kassahun, David Mark Eckley, Robert W. Maul, Paul Bastian, Supriyo De, Soumita Ghosh, Hilde Nilsen, Ilya G. Goldberg, Mark P. Mattson, David M. Wilson, III, Robert M. Brosh, Jr., Myriam Gorospe, Vilhelm A. Bohr

Proc Natl Acad Sci U S A. 2016 Nov 1; 113(44): 12502–12507. Published online 2016 Oct 18. doi: 10.1073/pnas.1610198113