{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T05:01:02Z","timestamp":1778821262563,"version":"3.51.4"},"reference-count":54,"publisher":"Impact Journals, LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Aging"],"DOI":"10.18632\/aging.205537","type":"journal-article","created":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T10:50:42Z","timestamp":1707475842000},"source":"Crossref","is-referenced-by-count":5,"title":["Defining the progeria phenome"],"prefix":"10.18632","author":[{"given":"Cecilie","family":"Worm","sequence":"first","affiliation":[{"name":"Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maya Elena Ramirez","family":"Schambye","sequence":"additional","affiliation":[{"name":"Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garik V.","family":"Mkrtchyan","sequence":"additional","affiliation":[{"name":"Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Veviorskiy","sequence":"additional","affiliation":[{"name":"Insilico Medicine AI Limited, Level 6, Unit 08, Block A, IRENA HQ Building, Masdar City, Abu Dhabi, UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia","family":"Shneyderman","sequence":"additional","affiliation":[{"name":"Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan V.","family":"Ozerov","sequence":"additional","affiliation":[{"name":"Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Zhavoronkov","sequence":"additional","affiliation":[{"name":"Insilico Medicine AI Limited, Level 6, Unit 08, Block A, IRENA HQ Building, Masdar City, Abu Dhabi, UAE"},{"name":"Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Bakula","sequence":"additional","affiliation":[{"name":"Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morten","family":"Scheibye-Knudsen","sequence":"additional","affiliation":[{"name":"Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7892","published-online":{"date-parts":[[2024,2,9]]},"reference":[{"key":"1","unstructured":"Kaposi, Fagge, Hebra. On Diseases of the Skin, Including the Exanthemata. 2022. https:\/\/archive.org\/details\/ondiseasesskini00hebrgoog\/page\/n274\/mode\/2up."},{"key":"2","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1177\/095952878606900127","article-title":"Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six.","volume":"6","author":"Hutchinson","year":"1886","journal-title":"Med Chir Trans"},{"key":"3","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.cell.2022.11.001","article-title":"Hallmarks of aging: An expanding universe.","volume":"18","author":"Kroemer","year":"2023","journal-title":"Cell"},{"key":"4","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.tcb.2019.12.001","article-title":"Protecting the Aging Genome.","volume":"3","author":"Scheibye-Knudsen","year":"2020","journal-title":"Trends Cell Biol"},{"key":"5","doi-asserted-by":"publisher","first-page":"2340","DOI":"10.1038\/jid.2009.103","article-title":"From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging.","volume":"12","author":"Orlow","year":"2009","journal-title":"J Invest Dermatol"},{"key":"6","doi-asserted-by":"publisher","first-page":"a003392","DOI":"10.1101\/mcs.a003392","article-title":"Diagnosing rare diseases after the exome.","volume":"4","author":"Montgomery","year":"2018","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"7","doi-asserted-by":"publisher","first-page":"192","DOI":"10.18632\/aging.100546","article-title":"A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging.","volume":"5","author":"Bohr","year":"2013","journal-title":"Aging (Albany NY)"},{"key":"8","doi-asserted-by":"publisher","first-page":"5786","DOI":"10.18632\/aging.102166","article-title":"A defined human aging phenome.","volume":"1","author":"Scheibye-Knudsen","year":"2019","journal-title":"Aging (Albany NY)"},{"key":"9","doi-asserted-by":"publisher","first-page":"12502","DOI":"10.1073\/pnas.1610198113","article-title":"Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA.","volume":"11","author":"Bastian","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"10","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/j.arr.2005.06.008","article-title":"Gene expression and DNA repair in progeroid syndromes and human aging.","volume":"4","author":"Bohr","year":"2005","journal-title":"Ageing Res Rev"},{"key":"11","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1038\/s43587-021-00098-4","article-title":"Autophagy in healthy aging and disease.","volume":"1","author":"Kroemer","year":"2021","journal-title":"Nat Aging"},{"key":"12","doi-asserted-by":"publisher","first-page":"239","DOI":"10.3389\/fcell.2020.00239","article-title":"MitophAging: Mitophagy in Aging and Disease.","volume":"8","author":"Scheibye-Knudsen","year":"2020","journal-title":"Front Cell Dev Biol"},{"key":"13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.pediatrneurol.2023.01.011","article-title":"The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.","volume":"14","author":"Hughes","year":"2023","journal-title":"Pediatr Neurol"},{"key":"14","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1016\/j.ajhg.2017.09.017","article-title":"De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.","volume":"10","author":"Peterlin","year":"2017","journal-title":"Am J Hum Genet"},{"key":"15","unstructured":"Gene Cards 2022. \u201cPDGFRB Gene - Platelet Derived Growth Factor Receptor Bet\u201d. genecards.org. 2022. https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDGFRB."},{"key":"16","unstructured":"Gene Cards 2022. \u201cLEMD2 Gene - LEM Domain Nuclear Envelope Protein 2\u201d. genecards.org. 2022. https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LEMD2."},{"key":"17","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/j.ajhg.2014.12.011","article-title":"Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.","volume":"9","author":"Dallapiccola","year":"2015","journal-title":"Am J Hum Genet"},{"key":"18","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1002\/jbmr.2598","article-title":"Fibrillin-1 Regulates Skeletal Stem Cell Differentiation by Modulating TGF\u03b2 Activity Within the Marrow Niche.","volume":"3","author":"Ramirez","year":"2016","journal-title":"J Bone Miner Res"},{"key":"19","unstructured":"Gene Cards 2022. \u201cPIK3R1 Gene - Phosphoinositide-3-Kinase Regulatory Subunit 1\u201d. genecards.org. 2022. https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PIK3R1."},{"key":"20","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1002\/humu.20392","article-title":"Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.","volume":"2","author":"Kraemer","year":"2006","journal-title":"Hum Mutat"},{"key":"21","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1046\/j.1523-1747.2002.01782.x","article-title":"Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.","volume":"11","author":"Inui","year":"2002","journal-title":"J Invest Dermatol"},{"key":"22","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/cge.13837","article-title":"Premature aging disorders: A clinical and genetic compendium.","volume":"9","author":"Wollnik","year":"2021","journal-title":"Clin Genet"},{"key":"23","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/ajmg.1320240307","article-title":"Acromicric dysplasia.","volume":"2","author":"Rappaport","year":"1986","journal-title":"Am J Med Genet"},{"key":"24","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1136\/jmg.38.11.745","article-title":"Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.","volume":"3","author":"Pouliquen","year":"2001","journal-title":"J Med Genet"},{"key":"25","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/s41439-018-0004-z","article-title":"Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome.","volume":"5","author":"Hata","year":"2018","journal-title":"Hum Genome Var"},{"key":"26","doi-asserted-by":"publisher","first-page":"2141","DOI":"10.1002\/ajmg.a.33015","article-title":"Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.","volume":"14","author":"Dollfus","year":"2009","journal-title":"Am J Med Genet A"},{"key":"27","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1002\/ajmg.1320110311","article-title":"Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.","volume":"1","author":"Fenske","year":"1982","journal-title":"Am J Med Genet"},{"key":"28","doi-asserted-by":"publisher","first-page":"59","DOI":"10.3109\/13816819609057872","article-title":"Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?","volume":"1","author":"Moore","year":"1996","journal-title":"Ophthalmic Genet"},{"key":"29","doi-asserted-by":"publisher","first-page":"295","DOI":"10.3928\/01913913-20220825-01","article-title":"A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.","volume":"6","author":"Couser","year":"2023","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"30","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1002\/ajmg.1320560112","article-title":"Further delineation of the branchio-oculo-facial syndrome.","volume":"5","author":"Meinecke","year":"1995","journal-title":"Am J Med Genet"},{"key":"31","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1097\/MCD.0000000000000056","article-title":"Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.","volume":"2","author":"Ragge","year":"2015","journal-title":"Clin Dysmorphol"},{"key":"32","doi-asserted-by":"publisher","first-page":"2328","DOI":"10.1002\/ajmg.a.36678","article-title":"Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.","volume":"16","author":"Zamani","year":"2014","journal-title":"Am J Med Genet A"},{"key":"33","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1111\/cge.12688","article-title":"Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.","volume":"8","author":"Claudi","year":"2016","journal-title":"Clin Genet"},{"key":"34","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1002\/ajmg.1320030410","article-title":"Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.","volume":"3","author":"Robles-Gil","year":"1979","journal-title":"Am J Med Genet"},{"key":"35","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1097\/00019605-199701000-00009","article-title":"Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome.","volume":"6","author":"Sabry","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"36","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1007\/BF00272192","article-title":"Geroderma osteodysplastica. A report of two affected families.","volume":"4","author":"Reed","year":"1978","journal-title":"Hum Genet"},{"key":"37","doi-asserted-by":"publisher","first-page":"1786","DOI":"10.1002\/ajmg.a.35984","article-title":"Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.","volume":"16","author":"Le Merrer","year":"2013","journal-title":"Am J Med Genet A"},{"key":"38","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/j.ajhg.2015.07.009","article-title":"A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.","volume":"9","author":"Biesecker","year":"2015","journal-title":"Am J Hum Genet"},{"key":"39","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1038\/s41431-018-0323-z","article-title":"A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.","volume":"2","author":"Houge","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"40","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1016\/s0022-3476(60)80315-0","article-title":"Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?","volume":"5","author":"Moss","year":"1960","journal-title":"J Pediatr"},{"key":"41","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/ajmg.1320350314","article-title":"Previously unrecognized congenital progeroid disorder.","volume":"3","author":"Wiedemann","year":"1990","journal-title":"Am J Med Genet"},{"key":"42","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1016\/j.ajhg.2017.09.016","article-title":"De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.","volume":"10","author":"Kalscheuer","year":"2017","journal-title":"Am J Hum Genet"},{"key":"43","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1002\/ajmg.1320350315","article-title":"A \u201cnew\u201d skeletal dysplasia in two unrelated boys.","volume":"3","author":"Wilson","year":"1990","journal-title":"Am J Med Genet"},{"key":"44","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1016\/j.ajhg.2018.09.003","article-title":"A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.","volume":"10","author":"Solomon","year":"2018","journal-title":"Am J Hum Genet"},{"key":"45","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1002\/ajmg.1320510304","article-title":"Microcephalic osteodysplastic dysplasia.","volume":"5","author":"Rimoin","year":"1994","journal-title":"Am J Med Genet"},{"key":"46","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/j.ajhg.2019.02.021","article-title":"The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.","volume":"10","author":"Stokowy","year":"2019","journal-title":"Am J Hum Genet"},{"key":"47","unstructured":"Scheibye-Knudsen, Scheibye-Alsing. 2012. \u201cWelcome to the tutorial\u201d. mitodb.com. 2022. http:\/\/www.mitodb.com\/tutorial.html."},{"key":"48","unstructured":"Das Angel. \u201cHierarchical Clustering in Python using Dendrogram and Cophenetic Correlation\u201d. Towards Data Science. 2022. https:\/\/towardsdatascience.com\/hierarchical-clustering-in-python-using-dendrogram-and-cophenetic-correlation-8d41a08f7eab."},{"key":"49","doi-asserted-by":"crossref","unstructured":"Bonsai. \u201cSoftware\u201d. 2023. http:\/\/bonsai.hgc.jp\/~mdehoon\/software\/cluster\/software.htm.","DOI":"10.22541\/au.169945435.56572250\/v1"},{"key":"50","doi-asserted-by":"publisher","first-page":"20150202","DOI":"10.1098\/rsta.2015.0202","article-title":"Principal component analysis: a review and recent developments.","volume":"37","author":"Cadima","year":"2016","journal-title":"Philos Trans A Math Phys Eng Sci"},{"key":"51","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1007\/978-1-62703-059-5_22","article-title":"Principal components analysis.","volume":"93","author":"Selbig","year":"2013","journal-title":"Methods Mol Biol"},{"key":"52","unstructured":"Insilico Medicine. \u201cPanda Omics\u201d. 2023. https:\/\/insilico.com\/pandaomics."},{"key":"53","doi-asserted-by":"publisher","first-page":"13427","DOI":"10.1038\/ncomms13427","article-title":"Pathway Activation Network Decomposition Analysis (iPANDA) as a method for biomarker development.","volume":"7","author":"Cantor","year":"2016","journal-title":"Nat Commun"},{"key":"54","doi-asserted-by":"publisher","first-page":"D498","DOI":"10.1093\/nar\/gkz1031","article-title":"The reactome pathway knowledgebase.","volume":"4","author":"Milacic","year":"2020","journal-title":"Nucleic Acids Res"}],"container-title":["Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.aging-us.com\/lookup\/doi\/10.18632\/aging.205537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T10:50:47Z","timestamp":1707475847000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.aging-us.com\/lookup\/doi\/10.18632\/aging.205537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,9]]},"references-count":54,"alternative-id":["205537"],"URL":"https:\/\/doi.org\/10.18632\/aging.205537","relation":{},"ISSN":["1945-4589"],"issn-type":[{"value":"1945-4589","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,9]]}}}