{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T09:47:19Z","timestamp":1774950439099,"version":"3.50.1"},"reference-count":80,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Dermatologie"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Progeroide Syndrome (PS) sind durch das vorzeitige Auftreten von altersbedingten Symptomen und Krankheiten gekennzeichnet. PSs sind klinisch heterogen und manifestieren sich unter anderem durch Seh- und H\u00f6rverlust, Hautatrophie, Haarausfall, Neurodegeneration, Knochendeformit\u00e4ten und kardiovaskul\u00e4re Defekte. J\u00fcngste Fortschritte in der Molekularpathologie haben zu einem besseren Verst\u00e4ndnis der Pathomechanismen dieser Krankheiten gef\u00fchrt. Die verantwortlichen genetischen Mutationen, sind funktionell mit der Erhaltung und Reparatur des Genoms verkn\u00fcpft, was die urs\u00e4chliche Rolle der Anh\u00e4ufung von DNA(Desoxyribonukleins\u00e4ure)-Sch\u00e4den bei der Alterung untermauert. W\u00e4hrend einige dieser Gene f\u00fcr Proteine kodieren, die direkt an der DNA-Reparaturmaschinerie beteiligt sind, wie z.\u202fB. die Nukleotidexzisionsreparatur (NER), destabilisieren andere das Genom, indem sie die Stabilit\u00e4t der Kernh\u00fclle beeintr\u00e4chtigen, wie z.\u202fB. Lamin\u00a0A beim Hutchinson-Gilford-Progerie-Syndrom (HGPS), oder regulieren die DNA-Schadensreaktion (DDR), wie z.\u202fB. das Ataxia-teleangiectasia-mutierte (ATM) Gen. Die Untersuchung der Pathophysiologie progeroider Krankheiten hat zur Entwicklung potenzieller Behandlungen beigetragen.<\/jats:p>","DOI":"10.1007\/s00105-023-05212-8","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T10:02:03Z","timestamp":1693476123000},"page":"696-706","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Progeroide Syndrome","Progeroid syndromes"],"prefix":"10.1007","volume":"74","author":[{"given":"Kevin","family":"Koschitzki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Ivanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Berneburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,8,31]]},"reference":[{"key":"5212_CR1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.cell.2022.11.001","volume":"186","author":"C L\u00f3pez-Ot\u00edn","year":"2023","unstructured":"L\u00f3pez-Ot\u00edn\u00a0C, Blasco\u00a0MA, Partridge\u00a0L et al (2023) Hallmarks of aging: an expanding universe. Cell 186:243\u2013278","journal-title":"Cell"},{"key":"5212_CR2","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1242\/dmm.024711","volume":"9","author":"D Carrero","year":"2016","unstructured":"Carrero\u00a0D, Soria-Valles\u00a0C, L\u00f3pez-Ot\u00edn\u00a0C (2016) Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells. Dis Model Mech 9:719\u2013735","journal-title":"Dis Model Mech"},{"key":"5212_CR3","unstructured":"Werner, G. (2021). Systematic Analysis of Molecular and Cellular Dysfunction in Accelerated Aging Phenotypes. Dissertation, Georg-August-Universit\u00e4t G\u00f6ttingen"},{"key":"5212_CR4","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/ajmg.a.63010","volume":"191","author":"YB Do\u011fan","year":"2023","unstructured":"Do\u011fan\u00a0YB, G\u00fcnay\u00a0N, Ada\u00a0Y et\u00a0al (2023) A\u00a0novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome. Am J Med Genet Part\u00a0A 191:173\u2013182","journal-title":"Am J Med Genet Part A"},{"key":"5212_CR5","first-page":"253","volume":"24","author":"B Wollnik","year":"2012","unstructured":"Wollnik\u00a0B, Kornak\u00a0U (2012) Progeroide Erkrankungen und ihre Mechanismen. Med Genet 24:253\u2013256","journal-title":"Med Genet"},{"key":"5212_CR6","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/nrm2944","volume":"11","author":"CR Burtner","year":"2010","unstructured":"Burtner\u00a0CR, Kennedy\u00a0BK (2010) Progeria syndromes and ageing: what is the connection? Nat Rev Mol Cell Biol 11:567\u2013578","journal-title":"Nat Rev Mol Cell Biol"},{"key":"5212_CR7","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/jidsymp.2009.6","volume":"14","author":"Y Kamenisch","year":"2009","unstructured":"Kamenisch\u00a0Y, Berneburg\u00a0M (2009) Progeroid syndromes and UV-induced oxidative DNA damage. J\u00a0Investig Dermatol Symp Proc 14:8\u201314","journal-title":"J Investig Dermatol Symp Proc"},{"key":"5212_CR8","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1007\/s00105-009-1790-5","volume":"60","author":"E Kohl","year":"2009","unstructured":"Kohl\u00a0E, Landthaler\u00a0M, Szeimies\u00a0R\u2011M (2009) Hautalterung. Hautarzt 60:917\u2013933 (quiz 934)","journal-title":"Hautarzt"},{"key":"5212_CR9","doi-asserted-by":"crossref","first-page":"190168","DOI":"10.1098\/rsob.190168","volume":"9","author":"PFL da Silva","year":"2019","unstructured":"da Silva\u00a0PFL, Schumacher\u00a0B (2019) DNA damage responses in ageing. Open Biol 9:190168","journal-title":"Open Biol"},{"key":"5212_CR10","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1083\/jcb.200801096","volume":"181","author":"J Espada","year":"2008","unstructured":"Espada\u00a0J, Varela\u00a0I, Flores\u00a0I et al (2008) Nuclear envelope defects cause stem cell dysfunction in premature-aging mice. J\u00a0Cell Biol 181:27\u201335","journal-title":"J Cell Biol"},{"key":"5212_CR11","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1038\/ncb1911","volume":"11","author":"P Abdallah","year":"2009","unstructured":"Abdallah\u00a0P, Luciano\u00a0P, Runge\u00a0KW et al (2009) A\u00a0two-step model for senescence triggered by a\u00a0single critically short telomere. Nat Cell Biol 11:988\u2013993","journal-title":"Nat Cell Biol"},{"key":"5212_CR12","doi-asserted-by":"crossref","first-page":"35509","DOI":"10.18632\/oncotarget.5899","volume":"6","author":"F Olivieri","year":"2015","unstructured":"Olivieri\u00a0F, Albertini\u00a0MC, Orciani\u00a0M et al (2015) DNA damage response (DDR) and senescence: shuttled inflamma-miRNas on the stage of inflamm-aging. Oncotarget 6:35509\u201335521","journal-title":"Oncotarget"},{"key":"5212_CR13","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/emboj\/19.5.1157","volume":"19","author":"M Berneburg","year":"2000","unstructured":"Berneburg\u00a0M, Lowe\u00a0JE, Nardo\u00a0T et al (2000) UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP\u2011D and Cockayne syndrome. EMBO\u00a0J 19:1157\u20131166","journal-title":"EMBO J"},{"key":"5212_CR14","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/978-3-662-60266-9_45","volume-title":"L\u00f6ffler\/Petrides Biochemie und Pathobiochemie","author":"H-G Koch","year":"2022","unstructured":"Koch\u00a0H\u2011G, Brix\u00a0J, Heinrich\u00a0PC (2022) DNA-Mutationen und ihre Reparatur. In: L\u00f6ffler\/Petrides Biochemie und Pathobiochemie. Springer, Berlin, Heidelberg, S 727\u2013737"},{"key":"5212_CR15","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1056\/NEJMra0804615","volume":"361","author":"JHJ Hoeijmakers","year":"2009","unstructured":"Hoeijmakers\u00a0JHJ (2009) DNA damage, aging, and cancer. N\u00a0Engl J Med 361:1475\u20131485","journal-title":"N Engl J Med"},{"issue":"3","key":"5212_CR16","doi-asserted-by":"crossref","first-page":"602","DOI":"10.3390\/genes14030602","volume":"14","author":"NJ Batista","year":"2023","unstructured":"Batista NJ, Desai SG, Perez AM et al (2023) The Molecular and Cellular Basis of Hutchinson\u2013Gilford Progeria Syndrome and Potential Treatments. Genes 14(3):602","journal-title":"Genes"},{"key":"5212_CR17","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1111\/j.1399-0004.2004.00315.x","volume":"66","author":"RL Pollex","year":"2004","unstructured":"Pollex\u00a0RL, Hegele\u00a0RA (2004) Hutchinson-Gilford progeria syndrome. Clin Genet 66:375\u2013381","journal-title":"Clin Genet"},{"key":"5212_CR18","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1128\/MCB.01676-12","volume":"33","author":"M Singh","year":"2013","unstructured":"Singh\u00a0M, Hunt\u00a0CR, Pandita\u00a0RK et al (2013) Lamin A\/C depletion enhances DNA damage-induced stalled replication fork arrest. Mol Cell Biol 33:1210\u20131222","journal-title":"Mol Cell Biol"},{"key":"5212_CR19","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.mad.2008.04.003","volume":"129","author":"S Pereira","year":"2008","unstructured":"Pereira\u00a0S, Bourgeois\u00a0P, Navarro\u00a0C et\u00a0al (2008) HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches. Mech Ageing Dev 129:449\u2013459","journal-title":"Mech Ageing Dev"},{"key":"5212_CR20","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.mad.2009.03.001","volume":"130","author":"ML Decker","year":"2009","unstructured":"Decker\u00a0ML, Chavez\u00a0E, Vulto\u00a0I et al (2009) Telomere length in Hutchinson-Gilford progeria syndrome. Mech Ageing Dev 130:377\u2013383","journal-title":"Mech Ageing Dev"},{"key":"5212_CR21","doi-asserted-by":"crossref","first-page":"2605","DOI":"10.1242\/jcs.067306","volume":"123","author":"EK Benson","year":"2010","unstructured":"Benson\u00a0EK, Lee\u00a0SW, Aaronson\u00a0SA (2010) Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence. J\u00a0Cell Sci 123:2605\u20132612","journal-title":"J Cell Sci"},{"key":"5212_CR22","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1089\/ars.2020.8242","volume":"37","author":"C Crochemore","year":"2022","unstructured":"Crochemore\u00a0C, Cimmaruta\u00a0C, Fern\u00e1ndez-Molina\u00a0C et al (2022) Reactive species in progeroid syndromes and aging-related processes. Antioxid Redox Signal 37:208\u2013228","journal-title":"Antioxid Redox Signal"},{"key":"5212_CR23","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.cell.2013.12.028","volume":"156","author":"LB Gordon","year":"2014","unstructured":"Gordon\u00a0LB, Rothman\u00a0FG, L\u00f3pez-Ot\u00edn\u00a0C et al (2014) Progeria: a\u00a0paradigm for translational medicine. Cell 156:400\u2013407","journal-title":"Cell"},{"key":"5212_CR24","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1007\/s10522-018-9758-4","volume":"19","author":"MU Bikkul","year":"2018","unstructured":"Bikkul\u00a0MU, Clements\u00a0CS, Godwin\u00a0LS et al (2018) Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts. Biogerontology 19:579\u2013602","journal-title":"Biogerontology"},{"key":"5212_CR25","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1161\/CIRCULATIONAHA.116.022188","volume":"134","author":"LB Gordon","year":"2016","unstructured":"Gordon\u00a0LB, Kleinman\u00a0ME, Massaro\u00a0J et al (2016) Clinical trial of the protein farnesylation inhibitors lonafarnib, pravastatin, and zoledronic acid in children with Hutchinson-Gilford progeria syndrome. Circulation 134:114\u2013125","journal-title":"Circulation"},{"key":"5212_CR26","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/s41591-019-0343-4","volume":"25","author":"E Beyret","year":"2019","unstructured":"Beyret\u00a0E, Liao\u00a0H\u2011K, Yamamoto\u00a0M et al (2019) Single-dose CRISPR-Cas9 therapy extends lifespan of mice with Hutchinson-Gilford progeria syndrome. Nat Med 25:419\u2013422","journal-title":"Nat Med"},{"key":"5212_CR27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.arr.2017.12.001","volume":"42","author":"V Cenni","year":"2018","unstructured":"Cenni\u00a0V, D\u2019Apice\u00a0MR, Garagnani\u00a0P et\u00a0al (2018) Mandibuloacral dysplasia: a\u00a0premature ageing disease with aspects of physiological ageing. Ageing Res Rev 42:1\u201313","journal-title":"Ageing Res Rev"},{"key":"5212_CR28","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.3390\/genes12101508","volume":"12","author":"I J\u00e9ru","year":"2021","unstructured":"J\u00e9ru\u00a0I, Nabil\u00a0A, El-Makkawy\u00a0G et al (2021) Two decades after mandibuloacral dysplasia discovery: additional cases and comprehensive view of disease characteristics. Genes 12:1508","journal-title":"Genes"},{"key":"5212_CR29","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.1136\/jmg.2004.029751","volume":"42","author":"S Shackleton","year":"2005","unstructured":"Shackleton\u00a0S, Smallwood\u00a0DT, Clayton\u00a0P et\u00a0al (2005) Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a\u00a0severe progeroid phenotype. J\u00a0Med Genet 42:e36","journal-title":"J Med Genet"},{"key":"5212_CR30","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1093\/genetics\/156.3.927","volume":"156","author":"B Charlesworth","year":"2000","unstructured":"Charlesworth\u00a0B (2000) Fisher, Medawar, Hamilton and the evolution of aging. Genetics 156:927\u2013931","journal-title":"Genetics"},{"key":"5212_CR31","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.ajhg.2011.04.010","volume":"88","author":"XS Puente","year":"2011","unstructured":"Puente\u00a0XS, Quesada\u00a0V, Osorio\u00a0FG et\u00a0al (2011) Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a\u00a0hereditary progeroid syndrome. Am J Hum Genet 88:650\u2013656","journal-title":"Am J Hum Genet"},{"key":"5212_CR32","doi-asserted-by":"crossref","first-page":"2617","DOI":"10.1002\/ajmg.a.34249","volume":"155","author":"R Cabanillas","year":"2011","unstructured":"Cabanillas\u00a0R, Cadi\u00f1anos\u00a0J, Villameytide\u00a0JAF et al (2011) N\u00e9stor-Guillermo progeria syndrome: a\u00a0novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet\u00a0A 155:2617\u20132625","journal-title":"Am J Med Genet A"},{"key":"5212_CR33","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.pedneo.2015.09.005","volume":"57","author":"AK Dutta","year":"2016","unstructured":"Dutta\u00a0AK, Danda\u00a0S (2016) Restrictive dermopathy. Pediatr Neonatol 57:259","journal-title":"Pediatr Neonatol"},{"key":"5212_CR34","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s002920050373","volume":"20","author":"C Gross","year":"1999","unstructured":"Gross\u00a0C, Hausser\u00a0I, von der Wense\u00a0A et\u00a0al (1999) Restriktive Dermopathiey. Pathologe 20:365\u2013370","journal-title":"Pathologe"},{"key":"5212_CR35","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/carcin\/21.3.453","volume":"21","author":"J de Boer","year":"2000","unstructured":"de Boer\u00a0J, Hoeijmakers\u00a0JH (2000) Nucleotide excision repair and human syndromes. Carcinogenesis 21:453\u2013460","journal-title":"Carcinogenesis"},{"key":"5212_CR36","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S1011-1344(00)00024-5","volume":"54","author":"M Berneburg","year":"2000","unstructured":"Berneburg\u00a0M, Krutmann\u00a0J (2000) Photoimmunology, DNA repair and photocarcinogenesis. J\u00a0Photochem Photobiol\u00a0B 54:87\u201393","journal-title":"J Photochem Photobiol B"},{"key":"5212_CR37","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1034\/j.1600-0781.2000.160601.x","volume":"16","author":"M Berneburg","year":"2000","unstructured":"Berneburg\u00a0M, Plettenberg\u00a0H, Krutmann\u00a0J (2000) Photoaging of human skin. Photodermatol Photoimmunol Photomed 16:239\u2013244","journal-title":"Photodermatol Photoimmunol Photomed"},{"key":"5212_CR38","doi-asserted-by":"crossref","first-page":"E1236","DOI":"10.1073\/pnas.1519444113","volume":"113","author":"H Fassihi","year":"2016","unstructured":"Fassihi\u00a0H, Sethi\u00a0M, Fawcett\u00a0H et\u00a0al (2016) Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci U S\u00a0A 113:E1236\u2013E1245","journal-title":"Proc Natl Acad Sci U S A"},{"key":"5212_CR39","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.ajhg.2013.04.007","volume":"92","author":"K Kashiyama","year":"2013","unstructured":"Kashiyama\u00a0K, Nakazawa\u00a0Y, Pilz\u00a0DT et al (2013) Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and fanconi anemia. Am J Hum Genet 92:807\u2013819","journal-title":"Am J Hum Genet"},{"key":"5212_CR40","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.neuroscience.2006.12.020","volume":"145","author":"KH Kraemer","year":"2007","unstructured":"Kraemer\u00a0KH, Patronas\u00a0NJ, Schiffmann\u00a0R et al (2007) Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a\u00a0complex genotype-phenotype relationship. Neuroscience 145:1388\u20131396","journal-title":"Neuroscience"},{"key":"5212_CR41","first-page":"303","volume":"291","author":"CM Kelly","year":"2005","unstructured":"Kelly\u00a0CM, Latimer\u00a0JJ (2005) Unscheduled DNA synthesis: a\u00a0functional assay for global genomic nucleotide excision repair. Methods Mol Biol 291:303\u2013320","journal-title":"Methods Mol Biol"},{"key":"5212_CR42","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1002\/ajmg.a.32902","volume":"149A","author":"F Morice-Picard","year":"2009","unstructured":"Morice-Picard\u00a0F, Cario-Andr\u00e9\u00a0M, Rezvani\u00a0H et al (2009) New clinico-genetic classification of trichothiodystrophy. Am J Med Genet\u00a0A 149A:2020\u20132030","journal-title":"Am J Med Genet A"},{"key":"5212_CR43","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2008.058743","volume":"45","author":"S Faghri","year":"2008","unstructured":"Faghri\u00a0S, Tamura\u00a0D, Kraemer\u00a0KH et\u00a0al (2008) Trichothiodystrophy: a\u00a0systematic review of 112 published cases characterises a\u00a0wide spectrum of clinical manifestations. J\u00a0Med Genet 45:609\u2013621","journal-title":"J Med Genet"},{"key":"5212_CR44","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1093\/hmg\/ddt143","volume":"22","author":"J Nonnekens","year":"2013","unstructured":"Nonnekens\u00a0J, Perez-Fernandez\u00a0J, Theil\u00a0AF et al (2013) Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing. Hum Mol Genet 22:2881\u20132893","journal-title":"Hum Mol Genet"},{"key":"5212_CR45","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nrm3350","volume":"13","author":"E Compe","year":"2012","unstructured":"Compe\u00a0E, Egly\u00a0J\u2011M (2012) TFIIH: when transcription met DNA repair. Nat Rev Mol Cell Biol 13:343\u2013354","journal-title":"Nat Rev Mol Cell Biol"},{"key":"5212_CR46","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.ajhg.2019.06.017","volume":"105","author":"AF Theil","year":"2019","unstructured":"Theil\u00a0AF, Botta\u00a0E, Raams\u00a0A et al (2019) Bi-allelic TARS mutations are associated with brittle hair phenotype. Am J Hum Genet 105:434\u2013440","journal-title":"Am J Hum Genet"},{"key":"5212_CR47","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.mad.2013.02.006","volume":"134","author":"V Laugel","year":"2013","unstructured":"Laugel\u00a0V (2013) Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev 134:161\u2013170","journal-title":"Mech Ageing Dev"},{"key":"5212_CR48","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s13023-022-02257-1","volume":"17","author":"A Chikhaoui","year":"2022","unstructured":"Chikhaoui\u00a0A, Kraoua\u00a0I, Calmels\u00a0N et\u00a0al (2022) Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations. Orphanet J Rare Dis 17:121","journal-title":"Orphanet J Rare Dis"},{"key":"5212_CR49","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/gim.2015.110","volume":"18","author":"BT Wilson","year":"2016","unstructured":"Wilson\u00a0BT, Stark\u00a0Z, Sutton\u00a0RE et\u00a0al (2016) The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med 18:483\u2013493","journal-title":"Genet Med"},{"key":"5212_CR50","doi-asserted-by":"crossref","first-page":"106637","DOI":"10.1016\/j.phrs.2022.106637","volume":"187","author":"F Liang","year":"2023","unstructured":"Liang\u00a0F, Li\u00a0B, Xu\u00a0Y et\u00a0al (2023) Identification and characterization of necdin as a\u00a0target for the Cockayne syndrome B protein in promoting neuronal differentiation and maintenance. Pharmacol Res 187:106637","journal-title":"Pharmacol Res"},{"key":"5212_CR51","doi-asserted-by":"crossref","first-page":"e0271246","DOI":"10.1371\/journal.pone.0271246","volume":"17","author":"F Taupelet","year":"2022","unstructured":"Taupelet\u00a0F, Donnio\u00a0L\u2011M, Magnani\u00a0C et al (2022) A\u00a0stable XPG protein is required for proper ribosome biogenesis: insights on the phenotype of combinate xeroderma pigmentosum\/Cockayne syndrome patients. PLoS ONE 17:e271246","journal-title":"PLoS ONE"},{"key":"5212_CR52","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","volume":"7","author":"WJ Kleijer","year":"2008","unstructured":"Kleijer\u00a0WJ, Laugel\u00a0V, Berneburg\u00a0M et\u00a0al (2008) Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair 7:744\u2013750","journal-title":"DNA Repair"},{"key":"5212_CR53","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1007\/s00112-020-01115-3","volume":"169","author":"MC Martens","year":"2021","unstructured":"Martens\u00a0MC, Emmert\u00a0S, Boeckmann\u00a0L (2021) Genetisch bedingte UV-Empfindlichkeit. Monatsschr Kinderheilkd 169:114\u2013123","journal-title":"Monatsschr Kinderheilkd"},{"key":"5212_CR54","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1007\/s00439-022-02462-9","volume":"141","author":"JD Peake","year":"2022","unstructured":"Peake\u00a0JD, Noguchi\u00a0E (2022) Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair. Hum Genet 141:1811\u20131836","journal-title":"Hum Genet"},{"key":"5212_CR55","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/j.cell.2016.04.006","volume":"165","author":"R Sumpter","year":"2016","unstructured":"Sumpter\u00a0R, Sirasanagandla\u00a0S, Fern\u00e1ndez \u00c1F et\u00a0al (2016) Fanconi anemia proteins function in mitophagy and immunity. Cell 165:867\u2013881","journal-title":"Cell"},{"issue":"Suppl 1","key":"5212_CR56","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1186\/1471-2091-8-S1-S10","volume":"8","author":"C Jacquemont","year":"2007","unstructured":"Jacquemont\u00a0C, Taniguchi\u00a0T (2007) The fanconi anemia pathway and ubiquitin. BMC Biochem 8(Suppl 1):S10","journal-title":"BMC Biochem"},{"key":"5212_CR57","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1586\/14737159.4.3.393","volume":"4","author":"H Kaneko","year":"2004","unstructured":"Kaneko\u00a0H, Kondo\u00a0N (2004) Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn 4:393\u2013401","journal-title":"Expert Rev Mol Diagn"},{"key":"5212_CR58","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1042\/bj20030491","volume":"374","author":"CZ Bachrati","year":"2003","unstructured":"Bachrati\u00a0CZ, Hickson\u00a0ID (2003) RecQ helicases: suppressors of tumorigenesis and premature aging. Biochem\u00a0J 374:577\u2013606","journal-title":"Biochem J"},{"key":"5212_CR59","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1159\/000452082","volume":"8","author":"C Cunniff","year":"2017","unstructured":"Cunniff\u00a0C, Bassetti\u00a0JA, Ellis\u00a0NA (2017) Bloom\u2019s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol 8:4\u201323","journal-title":"Mol Syndromol"},{"key":"5212_CR60","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1089\/gte.2007.0119","volume":"12","author":"M Amor-Gu\u00e9ret","year":"2008","unstructured":"Amor-Gu\u00e9ret\u00a0M, Dubois-d\u2019Enghien\u00a0C, Laug\u00e9\u00a0A et al (2008) Three new BLM gene mutations associated with Bloom syndrome. Genet Test 12:257\u2013261","journal-title":"Genet Test"},{"key":"5212_CR61","doi-asserted-by":"crossref","first-page":"e15120","DOI":"10.1111\/ped.15120","volume":"64","author":"H Kaneko","year":"2022","unstructured":"Kaneko\u00a0H, Takemoto\u00a0M, Murakami\u00a0H et al (2022) Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan. Pediatr Int 64:e15120","journal-title":"Pediatr Int"},{"key":"5212_CR62","doi-asserted-by":"crossref","first-page":"5","DOI":"10.4103\/jdds.jdds_34_19","volume":"24","author":"M Alsabbagh","year":"2020","unstructured":"Alsabbagh\u00a0M (2020) Rothmund-Thomson syndrome: a\u00a0review of clinical and molecular aspects. J\u00a0Dermatol Dermatol Surg 24:5","journal-title":"J Dermatol Dermatol Surg"},{"key":"5212_CR63","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1750-1172-5-2","volume":"5","author":"L Larizza","year":"2010","unstructured":"Larizza\u00a0L, Roversi\u00a0G, Volpi\u00a0L (2010) Rothmund-Thomson syndrome. Orphanet J Rare Dis 5:2","journal-title":"Orphanet J Rare Dis"},{"key":"5212_CR64","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.stem.2019.08.016","volume":"25","author":"FJ Rom\u00e1n-Rodr\u00edguez","year":"2019","unstructured":"Rom\u00e1n-Rodr\u00edguez\u00a0FJ, Ugalde\u00a0L, \u00c1lvarez\u00a0L et al (2019) NHEJ-mediated repair of CRISPR-Cas9-induced DNA breaks efficiently corrects mutations in HSPcs from patients with fanconi anemia. Cell Stem Cell 25:607\u2013621.e7","journal-title":"Cell Stem Cell"},{"key":"5212_CR65","first-page":"489","volume":"116","author":"D Lessel","year":"2019","unstructured":"Lessel\u00a0D, Kubisch\u00a0C (2019) Hereditary syndromes with signs of premature aging. Dtsch \u00c4rztebl Int 116:489\u2013496","journal-title":"Dtsch \u00c4rztebl Int"},{"key":"5212_CR66","first-page":"262","volume":"24","author":"D Lessel","year":"2012","unstructured":"Lessel\u00a0D, Oshima\u00a0J, Kubisch\u00a0C (2012) Werner-Syndrom. Med Genet 24:262\u2013267","journal-title":"Med Genet"},{"key":"5212_CR67","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1055\/s-2007-959294","volume":"132","author":"A Tsianakas","year":"2007","unstructured":"Tsianakas\u00a0A, M\u00fcller\u00a0FB, Hunzelmann\u00a0N et al (2007) Werner-Syndrom. Dtsch Med Wochenschr 132:91\u201394","journal-title":"Dtsch Med Wochenschr"},{"key":"5212_CR68","doi-asserted-by":"crossref","first-page":"a012716","DOI":"10.1101\/cshperspect.a012716","volume":"5","author":"A Mar\u00e9chal","year":"2013","unstructured":"Mar\u00e9chal\u00a0A, Zou\u00a0L (2013) DNA damage sensing by the ATM and ATR kinases. Cold Spring Harb Perspect Biol 5:a12716","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"5212_CR69","doi-asserted-by":"crossref","first-page":"101653","DOI":"10.1016\/j.arr.2022.101653","volume":"79","author":"J Aguado","year":"2022","unstructured":"Aguado\u00a0J, G\u00f3mez-Incl\u00e1n\u00a0C, Leeson\u00a0HC et al (2022) The hallmarks of aging in ataxia-telangiectasia. Ageing Res Rev 79:101653","journal-title":"Ageing Res Rev"},{"key":"5212_CR70","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","volume":"11","author":"C Rothblum-Oviatt","year":"2016","unstructured":"Rothblum-Oviatt\u00a0C, Wright\u00a0J, Lefton-Greif\u00a0MA et al (2016) Ataxia telangiectasia: a\u00a0review. Orphanet J Rare Dis 11:159","journal-title":"Orphanet J Rare Dis"},{"key":"5212_CR71","doi-asserted-by":"crossref","first-page":"109527","DOI":"10.1016\/j.clim.2023.109527","volume":"250","author":"A Magnarelli","year":"2023","unstructured":"Magnarelli\u00a0A, Sharma\u00a0R, Lederman\u00a0H (2023) Malignancy in Ataxia Telangiectasia (A-T). Clin Immunol 250:109527","journal-title":"Clin Immunol"},{"key":"5212_CR72","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/pai.13020","volume":"30","author":"P Amirifar","year":"2019","unstructured":"Amirifar\u00a0P, Ranjouri\u00a0MR, Yazdani\u00a0R et al (2019) Ataxia-telangiectasia: a\u00a0review of clinical features and molecular pathology. Pediatr Allergy Immunol 30:277\u2013288","journal-title":"Pediatr Allergy Immunol"},{"key":"5212_CR73","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/35096585","volume":"413","author":"T Vulliamy","year":"2001","unstructured":"Vulliamy\u00a0T, Marrone\u00a0A, Goldman\u00a0F et\u00a0al (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413:432\u2013435","journal-title":"Nature"},{"key":"5212_CR74","doi-asserted-by":"crossref","first-page":"496","DOI":"10.3390\/genes13030496","volume":"13","author":"M Callea","year":"2022","unstructured":"Callea\u00a0M, Martinelli\u00a0D, Cammarata-Scalisi\u00a0F et al (2022) Multisystemic manifestations in rare diseases: the experience of dyskeratosis congenita. Genes 13:496","journal-title":"Genes"},{"key":"5212_CR75","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1080\/17474086.2022.2108784","volume":"15","author":"H Tummala","year":"2022","unstructured":"Tummala\u00a0H, Walne\u00a0A, Dokal\u00a0I (2022) The biology and management of dyskeratosis congenita and related disorders of telomeres. Expert Rev Hematol 15:685\u2013696","journal-title":"Expert Rev Hematol"},{"key":"5212_CR76","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/bjh.13442","volume":"170","author":"G Glousker","year":"2015","unstructured":"Glousker\u00a0G, Touzot\u00a0F, Revy\u00a0P et al (2015) Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a\u00a0complex telomere biology disorder. Br J Haematol 170:457\u2013471","journal-title":"Br J Haematol"},{"key":"5212_CR77","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1038\/ejhg.2016.6","volume":"24","author":"E Passarge","year":"2016","unstructured":"Passarge\u00a0E, Robinson\u00a0PN, Graul-Neumann\u00a0LM (2016) Marfanoid-progeroid-lipodystrophy syndrome: a\u00a0newly recognized fibrillinopathy. Eur J Hum Genet 24:1244\u20131247","journal-title":"Eur J Hum Genet"},{"key":"5212_CR78","doi-asserted-by":"crossref","first-page":"39","DOI":"10.3389\/fendo.2020.00039","volume":"11","author":"G Ceccarini","year":"2020","unstructured":"Ceccarini\u00a0G, Magno\u00a0S, Pelosini\u00a0C et al (2020) Congenital generalized lipoatrophy (Berardinelli-Seip syndrome) type\u00a01: description of novel AGPAT2 homozygous variants showing the highly heterogeneous presentation of the disease. Front Endocrinol 11:39","journal-title":"Front Endocrinol"},{"key":"5212_CR79","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cca.2008.12.032","volume":"402","author":"KB Gomes","year":"2009","unstructured":"Gomes\u00a0KB, Pardini\u00a0VC, Fernandes\u00a0AP (2009) Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). Clin Chim Acta 402:1\u20136","journal-title":"Clin Chim Acta"},{"key":"5212_CR80","first-page":"842.e1","volume":"66","author":"DR Berk","year":"2012","unstructured":"Berk\u00a0DR, Bentley\u00a0DD, Bayliss\u00a0SJ et\u00a0al (2012) Cutis laxa: a\u00a0review. J\u00a0Am Acad Dermatol 66:842.e1\u2013842.17","journal-title":"J Am Acad Dermatol"}],"container-title":["Die Dermatologie"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00105-023-05212-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00105-023-05212-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00105-023-05212-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T14:05:26Z","timestamp":1693922726000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00105-023-05212-8"}},"subtitle":["Alterung, Hautalterung und Mechanismen progeroider Erkrankungen","Aging, skin aging, and mechanisms of progeroid syndromes"],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":80,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["5212"],"URL":"https:\/\/doi.org\/10.1007\/s00105-023-05212-8","relation":{},"ISSN":["2731-7005","2731-7013"],"issn-type":[{"value":"2731-7005","type":"print"},{"value":"2731-7013","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,31]]},"assertion":[{"value":"21 July 2023","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 August 2023","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"K.\u00a0Koschitzki, I.\u00a0Ivanova und M.\u00a0Berneburg geben an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autor\/-innen keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien. F\u00fcr Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, \u00fcber die Patient\/-innen zu identifizieren sind, liegt von ihnen und\/oder ihren gesetzlichen Vertretern\/Vertreterinnen eine schriftliche Einwilligung vor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}