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111 results

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Transcription-coupled repair of DNA-protein cross-links depends on CSA and CSB.
Carnie CJ, Acampora AC, Bader AS, Erdenebat C, Zhao S, Bitensky E, van den Heuvel D, Parnas A, Gupta V, D'Alessandro G, Sczaniecka-Clift M, Weickert P, Aygenli F, Götz MJ, Cordes J, Esain-Garcia I, Melidis L, Wondergem AP, Lam S, Robles MS, Balasubramanian S, Adar S, Luijsterburg MS, Jackson SP, Stingele J. Carnie CJ, et al. Nat Cell Biol. 2024 May;26(5):797-810. doi: 10.1038/s41556-024-01391-1. Epub 2024 Apr 10. Nat Cell Biol. 2024. PMID: 38600235 Free PMC article.
Using genetic screens and a method for the genome-wide mapping of DNA-protein adducts, DPC sequencing, we discover that Cockayne syndrome (CS) proteins CSB and CSA provide resistance to DPC-inducing agents by promoting DPC repair in actively transcribed genes. ...
Using genetic screens and a method for the genome-wide mapping of DNA-protein adducts, DPC sequencing, we discover that Cockayne synd …
Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease.
Tian Y, Ma G, Li H, Zeng Y, Zhou S, Wang X, Shan S, Xu Y, Xiong J, Cheng G. Tian Y, et al. Mov Disord. 2023 Oct;38(10):1813-1821. doi: 10.1002/mds.29572. Epub 2023 Aug 3. Mov Disord. 2023. PMID: 37534731
In transcriptome-wide association study analysis, we showed six previously unreported pleiotropic genes (KANSL1, ARL17B, EFNA1, WNT3, ERCC8, and ADAM15), and we found these candidate genes are mainly enriched in negative regulation of neuron projection development (GO:0010 …
In transcriptome-wide association study analysis, we showed six previously unreported pleiotropic genes (KANSL1, ARL17B, EFNA1, WNT3, ERC …
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. Duong NT, et al. Aging (Albany NY). 2022 Jun 22;14(13):5299-5310. doi: 10.18632/aging.204139. Epub 2022 Jun 22. Aging (Albany NY). 2022. PMID: 35748794 Free PMC article.
Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants. ...This case shows the importance to test for ERCC6 and …
Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature ag …
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Chikhaoui A, Kraoua I, Calmels N, Bouchoucha S, Obringer C, Zayoud K, Montagne B, M'rad R, Abdelhak S, Laugel V, Ricchetti M, Turki I, Yacoub-Youssef H. Chikhaoui A, et al. Orphanet J Rare Dis. 2022 Mar 5;17(1):121. doi: 10.1186/s13023-022-02257-1. Orphanet J Rare Dis. 2022. PMID: 35248096 Free PMC article.
BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. ...RESULTS: Six out of eight patients …
BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that p …
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H. Laugel V, et al. Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154. Hum Mutat. 2010. PMID: 19894250
This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled DNA repair pathway. The clinical spectrum of Cockayne syndrome encompasses a wide range of severity from severe prenatal forms to mi …
This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled …
Clinical and Mutation Spectra of Cockayne Syndrome in India.
Narayanan DL, Tuteja M, McIntyre AD, Hegele RA, Calmels N, Obringer C, Laugel V, Mandal K, Phadke SR. Narayanan DL, et al. Neurol India. 2021 Mar-Apr;69(2):362-366. doi: 10.4103/0028-3886.314579. Neurol India. 2021. PMID: 33904453 Free article.
BACKGROUND: Cockayne syndrome is an autosomal recessive disorder caused by biallelic mutations in ERCC6 or ERCC8 genes. ...MATERIALS AND METHODS: Clinical details were recorded, and sequencing of ERCC6 and ERCC8 were performed. RESULTS AND CONCLUSIONS: Of the …
BACKGROUND: Cockayne syndrome is an autosomal recessive disorder caused by biallelic mutations in ERCC6 or ERCC8 genes. ...MAT …
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.
Using whole exome sequencing, a novel homozygous missense mutation ERCC8:c.176T>C (p.M59T) was identified that co-segregated with the disease. Previous studies have identified homozygous mutations in ERCC8 as causal for Cockayne Syndrome type A (CSA), a UV …
Using whole exome sequencing, a novel homozygous missense mutation ERCC8:c.176T>C (p.M59T) was identified that co-segregated with …
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
Chebly A, Corbani S, Abou Ghoch J, Mehawej C, Megarbane A, Chouery E. Chebly A, et al. BMC Med Genet. 2018 Sep 10;19(1):161. doi: 10.1186/s12881-018-0677-7. BMC Med Genet. 2018. PMID: 30200888 Free PMC article.
Sanger sequencing of both ERCC8 and ERCC6 genes was performed: ERCC8 was tested in all patients while ERCC6 in one of them. RESULTS: Sequencing led to the identification of three homozygous mutations, two in ERCC8 (p.Y322* and c.843 + 1G > C) and one in ER …
Sanger sequencing of both ERCC8 and ERCC6 genes was performed: ERCC8 was tested in all patients while ERCC6 in one of them. RE …
Identification of ERCC8 as a novel cisplatin-resistant gene in esophageal cancer based on genome-scale CRISPR/Cas9 screening.
Sui X, Tang X, Wu X, Liu Y. Sui X, et al. Biochem Biophys Res Commun. 2022 Feb 19;593:84-92. doi: 10.1016/j.bbrc.2022.01.033. Epub 2022 Jan 13. Biochem Biophys Res Commun. 2022. PMID: 35063774
In addition, Cell proliferation and wound healing assay confirmed that ERCC8 had little effect on the proliferation and migration of esophageal cancer cells in vitro. Survival analysis showed that ERCC8 expression was not associated with OS, DSS, or FPI in patients …
In addition, Cell proliferation and wound healing assay confirmed that ERCC8 had little effect on the proliferation and migration of …
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.
This was revealed in another patient with sporadic keratoconus, absent in the 210 unrelated health controls, and considered to be "disease-causing." ERCC8 was expressed both in the cornea and lens. Through an in vitro cell experiment, we further demonstrated that the mutan …
This was revealed in another patient with sporadic keratoconus, absent in the 210 unrelated health controls, and considered to be "disease-c …
111 results