{"id":4404,"date":"2020-10-31T13:14:43","date_gmt":"2020-10-31T12:14:43","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4404"},"modified":"2021-01-21T14:51:44","modified_gmt":"2021-01-21T13:51:44","slug":"dna-repair","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/dna-repair\/","title":{"rendered":"DNA repair disorders"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties DNA repair” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Baer S. et.al. (2021)\u00a0Growth charts in Cockayne syndrome type 1 and type 2.\u00a0<\/strong>Eur J Med Genet.\u00a0<\/em>64(1):104105\u00a0Pubmed<\/span><\/a><\/p>\n

Ribeiro-Silva C. et. al. (2020) Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair.<\/strong> Nat. Commun.<\/em> 11:4868 Pubmed<\/span><\/a><\/p>\n

Ragamin A, et al.<\/em> (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype.<\/strong> Am J Med Genet A.<\/em> 1-9 Pubmed<\/span><\/a><\/p>\n

Lans H. et. al. (2019) The DNA damage response to transcription stress.<\/strong> Nature Reviews Mol. Cell Biol.<\/em> 20:766-784. Pubmed<\/a><\/span><\/p>\n

Kuo M.E. & Theil A.F. et. al. (2019). Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.<\/strong> Am J Hum Genet.<\/em> pii: S0002-9297 Pubmed<\/a><\/span><\/p>\n

Theil A.F. & Botta E. et. al. (2019) Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.<\/strong> Am J Hum Genet.<\/em> 105:434-440 Pubmed<\/span><\/a><\/p>\n

Menoni H & Wienholz F et. al. (2018) The transcription-coupled DNA repair-initiating protein CSB promotes XRCC1 recruitment to oxidative DNA damage.<\/strong>\u00a0 Nucleic Acids Res.<\/em> Pubmed<\/a><\/span><\/p>\n

Ribeiro-Silva C. et. al. (2018). DNA damage sensitivity of SWI\/SNF-deficient cells depends on TFIIH subunit p62\/GTF2H1.<\/strong> Nat. Commun.<\/em> 9:4067 Pubmed<\/a><\/span><\/p>\n

Sabatella M. et. al. (2018). Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.<\/strong> Nucleic Acids Res.<\/em>\u00a012;46(18):9563-9577. Pubmed<\/a><\/span><\/p>\n

Theil A.F. et. al. (2017). Trichothiodystrophy causative TFIIE\u03b2 mutation affects transcription in highly differentiated tissue.<\/strong> Hum Mol Genet.<\/em> Dec 1;26(23):4689-4698. \u00a0Pubmed<\/a><\/span><\/p>\n

Vermeij W.P. et.al. <\/em>(2016) Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice. <\/strong>Nature. <\/em>537(7620), 427-31 Pubmed<\/span><\/a><\/p>\n

Marteijn JA, Hoeijmakers JH, Vermeulen W (2015) Check, Check \u2026Triple Check: Multi-Step DNA Lesion Identification by Nucleotide Excision Repair.<\/strong> Mol Cell<\/em> 59:885-6 Pubmed<\/a><\/span><\/p>\n

Tresini M. et al (2015). The core spliceosome as target and effector of non-canonical ATM signaling.<\/strong> Nature.<\/em> 2;523(7558):53-8. Pubmed<\/a><\/span><\/p>\n

Raj D.D. et.al. <\/em>(2014) Priming of microglia in a DNA-repair deficient model of accelerated aging. <\/strong>Neurobiol. Aging. <\/em>35(9), 2147-60 Pubmed<\/span><\/a><\/p>\n

Barnhoorn S, et.al.<\/em> (2014) Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency. <\/strong>PLoS Genet. <\/em>10(10), e1004686 Pubmed<\/span><\/a><\/p>\n

Jaarsma D, et.al. <\/em>(2013) Cockayne syndrome pathogenesis: lessons from mouse models. <\/strong>Mech Ageing Dev. <\/em>134(5-6), 180-95 Pubmed<\/span><\/a><\/p>\n

Jaarsma D, et.al. <\/em>(2011) Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. <\/strong>PLoS Genet. <\/em>7(12), e1002405 Pubmed<\/span><\/a><\/p>\n

Borgesius N.Z. et.al. <\/em>(2011) Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair. <\/strong>J Neurosci. <\/em>31(35), 12543-53 Pubmed<\/span><\/a><\/p>\n

De Waard M.C. et.al. <\/em>(2010) Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. <\/strong>Acta Neuropathol. <\/em>120(4), 461-75 Pubmed<\/span><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties DNA repair” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Baer S. et.al. (2021)\u00a0Growth charts in Cockayne syndrome type 1 and type 2.\u00a0Eur J Med Genet.\u00a064(1):104105\u00a0Pubmed Ribeiro-Silva C. et. al. (2020) Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair. Nat. Commun. 11:4868 Pubmed Ragamin A, et al. (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype. […]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4404"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4404"}],"version-history":[{"count":9,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4404\/revisions"}],"predecessor-version":[{"id":4858,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4404\/revisions\/4858"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4404"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}