{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,8]],"date-time":"2026-11-08T10:50:07Z","timestamp":1794135007890,"version":"4.8.0"},"reference-count":77,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research - Reviews in Mutation Research"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.mrrev.2025.108555","type":"journal-article","created":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T12:19:09Z","timestamp":1753791549000},"page":"108555","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity"],"prefix":"10.1016","volume":"796","author":[{"given":"Manuela","family":"Lanzafame","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Brevi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Veniali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2060-0110","authenticated-orcid":false,"given":"Elena","family":"Botta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mrrev.2025.108555_bib1","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1001\/archderm.1980.01640360049017","article-title":"Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex","volume":"116","author":"Price","year":"1980","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.mrrev.2025.108555_bib2","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2008.058743","article-title":"Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations","volume":"45","author":"Faghri","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib3","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/85864","article-title":"A temperature-sensitive disorder in basal transcription and DNA repair in humans","volume":"27","author":"Vermeulen","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib4","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.1002\/humu.24488","article-title":"TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy","volume":"43","author":"Lanzafame","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mrrev.2025.108555_bib5","doi-asserted-by":"crossref","DOI":"10.1111\/exd.14614","article-title":"Trichothiodystrophy hair shafts display distinct ultrastructural features","author":"Ioannidis","year":"2022","journal-title":"Exp. Dermatol."},{"key":"10.1016\/j.mrrev.2025.108555_bib6","doi-asserted-by":"crossref","first-page":"3448","DOI":"10.1002\/ajmg.a.62962","article-title":"Debilitating hip degeneration in trichothiodystrophy: association with ERCC2\/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis","volume":"188","author":"DiGiovanna","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.mrrev.2025.108555_bib7","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1002\/pd.2829","article-title":"High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies","volume":"31","author":"Tamura","year":"2011","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.mrrev.2025.108555_bib8","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1093\/hmg\/10.22.2539","article-title":"Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene","volume":"10","author":"Broughton","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib9","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/humu.20768","article-title":"Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy","volume":"29","author":"Boyle","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mrrev.2025.108555_bib10","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1038\/ejhg.2012.246","article-title":"Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum","volume":"21","author":"Zhou","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib11","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/bjh.15598","article-title":"Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival","volume":"185","author":"Randall","year":"2019","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.mrrev.2025.108555_bib12","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"7","author":"Kleijer","year":"2008","journal-title":"DNA Repair"},{"key":"10.1016\/j.mrrev.2025.108555_bib13","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/humu.20419","article-title":"Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships","volume":"28","author":"Botta","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mrrev.2025.108555_bib14","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.ajhg.2016.02.008","article-title":"GTF2E2 mutations destabilize the general transcription factor complex TFIIE in individuals with DNA repair-proficient trichothiodystrophy","volume":"98","author":"Kuschal","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib15","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.ajhg.2019.06.017","article-title":"Bi-allelic TARS mutations are associated with brittle hair phenotype","volume":"105","author":"Theil","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib16","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddab123","article-title":"Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy","volume":"30","author":"Botta","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib17","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1002\/pro.3424","article-title":"The essential and multifunctional TFIIH complex","volume":"27","author":"Rimel","year":"2018","journal-title":"Protein Sci."},{"key":"10.1016\/j.mrrev.2025.108555_bib18","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/nrm3822","article-title":"Understanding nucleotide excision repair and its roles in cancer and ageing","volume":"15","author":"Marteijn","year":"2014","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.mrrev.2025.108555_bib19","doi-asserted-by":"crossref","DOI":"10.1016\/j.dnarep.2023.103568","article-title":"TFIIH central activity in nucleotide excision repair to prevent disease","volume":"132","author":"Theil","year":"2023","journal-title":"DNA Repair"},{"issue":"1","key":"10.1016\/j.mrrev.2025.108555_bib20","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1002\/em.22568","article-title":"The role of transcription factor IIH complex in nucleotide excision repair","volume":"65","author":"Hoag","year":"2024","journal-title":"Environ. Mol. Mutagen."},{"key":"10.1016\/j.mrrev.2025.108555_bib21","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1146\/annurev-biochem-060815-014857","article-title":"Nucleotide excision repair and transcriptional regulation: TFIIH and beyond","volume":"85","author":"Compe","year":"2016","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.mrrev.2025.108555_bib22","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1038\/s42003-021-02875-8","article-title":"C. elegans TFIIH subunit GTF-2H5\/TTDA is a non-essential transcription factor indispensable for DNA repair","volume":"4","author":"Thijssen","year":"2021","journal-title":"Commun. Biol."},{"key":"10.1016\/j.mrrev.2025.108555_bib23","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1093\/nar\/gkr746","article-title":"TFIIH is an elongation factor of RNA polymerase I","volume":"40","author":"Assfalg","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mrrev.2025.108555_bib24","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/nature23903","article-title":"The cryo-electron microscopy structure of human transcription factor IIH","volume":"549","author":"Greber","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2025.108555_bib25","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1038\/s41594-019-0220-3","article-title":"Transcription preinitiation complex structure and dynamics provide insight into genetic diseases","volume":"26","author":"Yan","year":"2019","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.mrrev.2025.108555_bib26","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1086\/302063","article-title":"Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity","volume":"63","author":"Botta","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib27","doi-asserted-by":"crossref","first-page":"2532","DOI":"10.1074\/jbc.275.4.2532","article-title":"Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape","volume":"275","author":"Bradsher","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2025.108555_bib28","first-page":"320","article-title":"A mutation in the XPB\/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy","volume":"60","author":"Weeda","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib29","doi-asserted-by":"crossref","first-page":"2919","DOI":"10.1093\/hmg\/11.23.2919","article-title":"Reduced level of the repair\/transcription factor TFIIH in trichothiodystrophy","volume":"11","author":"Botta","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib30","series-title":"DNA Repair Disorders","author":"Orioli","year":"2019"},{"key":"10.1016\/j.mrrev.2025.108555_bib31","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1111\/cge.14396","article-title":"Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant","volume":"104","author":"Sorrentino","year":"2023","journal-title":"Clin. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib32","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1038\/s41467-019-10131-1","article-title":"TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription","volume":"10","author":"Compe","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.mrrev.2025.108555_bib33","doi-asserted-by":"crossref","first-page":"11197","DOI":"10.1093\/nar\/gkab866","article-title":"Nucleolar TFIIE plays a role in ribosomal biogenesis and performance","volume":"49","author":"Phan","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mrrev.2025.108555_bib34","doi-asserted-by":"crossref","first-page":"4689","DOI":"10.1093\/hmg\/ddx351","article-title":"Trichothiodystrophy causative TFIIE\u03b2 mutation affects transcription in highly differentiated tissue","volume":"26","author":"Theil","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib35","doi-asserted-by":"crossref","first-page":"e222","DOI":"10.1111\/jdv.19545","article-title":"Expanding the phenotype of GTF2E2-associated trichothiodystrophy","volume":"38","author":"Sperelakis-Beedham","year":"2024","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"10.1016\/j.mrrev.2025.108555_bib36","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/428141","article-title":"Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy","volume":"76","author":"Nakabayashi","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib37","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1007\/s00018-007-6501-8","article-title":"TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity","volume":"64","author":"Zhang","year":"2007","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.mrrev.2025.108555_bib38","doi-asserted-by":"crossref","first-page":"2258","DOI":"10.1016\/j.molcel.2023.06.011","article-title":"A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy","volume":"83","author":"Townley","year":"2023","journal-title":"Mol. Cell"},{"key":"10.1016\/j.mrrev.2025.108555_bib39","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1038\/jid.2014.440","article-title":"Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype","volume":"135","author":"Heller","year":"2015","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.mrrev.2025.108555_bib40","doi-asserted-by":"crossref","DOI":"10.1016\/j.jid.2025.06.1591","article-title":"RNA lariat debranching enzyme (DBR1) variations in Sabinas brittle hair syndrome form of trichothiodystrophy (TTD): a TTD causing gene","author":"Khan","year":"2025","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.mrrev.2025.108555_bib41","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkaf639","article-title":"DBR1 orchestrates the fate of lariat RNA: debranching-dependent turnover and function","volume":"53","author":"Tang","year":"2025","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mrrev.2025.108555_bib42","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202317973","article-title":"Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation","volume":"15","author":"Theil","year":"2023","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.mrrev.2025.108555_bib43","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1136\/jmedgenet-2014-102418","article-title":"A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A","volume":"52","author":"Corbett","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib44","doi-asserted-by":"crossref","first-page":"8764","DOI":"10.1002\/jcb.28163","article-title":"Human RNF113A participates of pre-mRNA splicing in vitro","volume":"120","author":"Gatti da Silva","year":"2019","journal-title":"J. Cell. Biochem."},{"key":"10.1016\/j.mrrev.2025.108555_bib45","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nature24484","article-title":"A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair","volume":"551","author":"Brickner","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2025.108555_bib46","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1016\/j.molcel.2021.09.024","article-title":"Aberrant RNA methylation triggers recruitment of an alkylation repair complex","volume":"81","author":"Tsao","year":"2021","journal-title":"Mol. Cell"},{"key":"10.1016\/j.mrrev.2025.108555_bib47","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ajmg.a.61450","article-title":"A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy","volume":"182","author":"Mendelsohn","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.mrrev.2025.108555_bib48","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ajmg.a.61384","article-title":"Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder","volume":"182","author":"Tessarech","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.mrrev.2025.108555_bib49","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ajhg.2019.01.006","article-title":"Cysteinyl-tRNA synthetase mutations cause a multi-system, recessive disease that includes microcephaly, developmental delay, and brittle hair and nails","volume":"104","author":"Kuo","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib50","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.tig.2019.11.007","article-title":"Ubiquitously expressed proteins and restricted phenotypes: exploring cell-specific sensitivities to impaired tRNA charging","volume":"36","author":"Kuo","year":"2020","journal-title":"Trends Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib51","doi-asserted-by":"crossref","DOI":"10.1111\/cge.13545","article-title":"Heterogeneity and overlaps in nucleotide excision repair disorders","volume":"97","author":"Ferri","year":"2020","journal-title":"Clin. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib52","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2024502118","article-title":"Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy","volume":"118","author":"Lombardi","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mrrev.2025.108555_bib53","doi-asserted-by":"crossref","first-page":"6074","DOI":"10.1158\/0008-5472.CAN-07-6695","article-title":"Defective transcription\/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome","volume":"68","author":"Chigan\u00e7as","year":"2008","journal-title":"Cancer Res."},{"key":"10.1016\/j.mrrev.2025.108555_bib54","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1089\/ars.2012.5036","article-title":"Oxidative DNA damage and nucleotide excision repair","volume":"18","author":"Melis","year":"2013","journal-title":"Antioxid. Redox Signal."},{"key":"10.1016\/j.mrrev.2025.108555_bib55","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/mutage\/gez020","article-title":"XPD\/ERCC2 mutations interfere in cellular responses to oxidative stress","volume":"34","author":"Lerner","year":"2019","journal-title":"Mutagenesis"},{"key":"10.1016\/j.mrrev.2025.108555_bib56","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1093\/hmg\/ddac268","article-title":"TFIIH mutations can impact on translational fidelity of the ribosome","volume":"32","author":"Khalid","year":"2023","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib57","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1080\/19768354.2024.2349758","article-title":"Effect of RNF113A deficiency on oxidative stress-induced NRF2 pathway","volume":"28","author":"Cho","year":"2024","journal-title":"Anim. Cells Syst."},{"key":"10.1016\/j.mrrev.2025.108555_bib58","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.tibs.2016.10.001","article-title":"Regulation of DNA alkylation damage repair: lessons and therapeutic opportunities","volume":"42","author":"Soll","year":"2017","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.mrrev.2025.108555_bib59","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.cell.2025.01.005","article-title":"Cellular responses to RNA damage","volume":"188","author":"Cordes","year":"2025","journal-title":"Cell"},{"key":"10.1016\/j.mrrev.2025.108555_bib60","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1101\/SQB.1994.059.01.036","article-title":"Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome","volume":"59","author":"Vermeulen","year":"1994","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"10.1016\/j.mrrev.2025.108555_bib61","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1016\/S1097-2765(03)00182-5","article-title":"Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients","volume":"11","author":"Dubaele","year":"2003","journal-title":"Mol. Cell"},{"key":"10.1016\/j.mrrev.2025.108555_bib62","doi-asserted-by":"crossref","first-page":"2797","DOI":"10.1093\/hmg\/10.24.2797","article-title":"Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy","volume":"10","author":"Viprakasit","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib63","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/BF00401225","article-title":"Altered cellular response to UV irradiation in a patient affected by premature ageing","volume":"73","author":"Stefanini","year":"1986","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib64","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1365-2249.2001.01625.x","article-title":"Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia","volume":"126","author":"Racioppi","year":"2001","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.mrrev.2025.108555_bib65","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1093\/hmg\/dds508","article-title":"XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression","volume":"22","author":"Orioli","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib66","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1073\/pnas.1416181112","article-title":"TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin","volume":"112","author":"Arseni","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mrrev.2025.108555_bib67","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1126\/science.1070174","article-title":"Premature aging in mice deficient in DNA repair and transcription","volume":"296","author":"de Boer","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.mrrev.2025.108555_bib68","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1016\/j.dnarep.2005.07.011","article-title":"Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice","volume":"4","author":"Backendorf","year":"2005","journal-title":"DNA Repair"},{"key":"10.1016\/j.mrrev.2025.108555_bib69","doi-asserted-by":"crossref","first-page":"6065","DOI":"10.1128\/MCB.25.14.6065-6076.2005","article-title":"Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations","volume":"25","author":"Compe","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.mrrev.2025.108555_bib70","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1038\/nn1990","article-title":"Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH","volume":"10","author":"Compe","year":"2007","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.mrrev.2025.108555_bib71","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004732","article-title":"Dynamic partnership between TFIIH, PGC-1\u03b1 and SIRT1 is impaired in trichothiodystrophy","volume":"10","author":"Traboulsi","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib72","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/S0092-8674(02)00729-8","article-title":"TFIIH plays an essential role in RNA polymerase I transcription","volume":"109","author":"Iben","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.mrrev.2025.108555_bib73","doi-asserted-by":"crossref","DOI":"10.3390\/cells12141877","article-title":"Ribosomal dysfunction is a common pathomechanism in different forms of trichothiodystrophy","volume":"12","author":"Zhu","year":"2023","journal-title":"Cells"},{"key":"10.1016\/j.mrrev.2025.108555_bib74","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1083\/jcb.201709072","article-title":"Pathways of cellular proteostasis in aging and disease","volume":"217","author":"Klaips","year":"2018","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.mrrev.2025.108555_bib75","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1038\/s10038-023-01134-4","article-title":"Facial clues to the photosensitive trichothiodystrophy phenotype in childhood","volume":"68","author":"Pascolini","year":"2023","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2025.108555_bib76","article-title":"The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: a subsequent study on paediatric population","volume":"12","author":"Pascolini","year":"2024","journal-title":"Mol. Genet. Genom. Med"},{"key":"10.1016\/j.mrrev.2025.108555_bib77","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1111\/ced.14642","article-title":"Successful treatment of trichothiodystrophy with dupilumab","volume":"46","author":"Gruber","year":"2021","journal-title":"Clin. Exp. Dermatol."}],"container-title":["Mutation Research - Reviews in Mutation Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574225000262?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574225000262?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T17:36:53Z","timestamp":1765561013000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1383574225000262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":77,"alternative-id":["S1383574225000262"],"URL":"https:\/\/doi.org\/10.1016\/j.mrrev.2025.108555","relation":{},"ISSN":["1383-5742"],"issn-type":[{"value":"1383-5742","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity","name":"articletitle","label":"Article Title"},{"value":"Mutation Research - Reviews in Mutation Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrrev.2025.108555","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"108555"}}