{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:19:47Z","timestamp":1762377587317,"version":"3.40.5"},"reference-count":36,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T00:00:00Z","timestamp":1718496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1016\/j.ejmg.2024.104957","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T06:12:48Z","timestamp":1718604768000},"page":"104957","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III"],"prefix":"10.1016","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5939-6045","authenticated-orcid":false,"given":"Ian S.","family":"Logan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5806","key":"10.1016\/j.ejmg.2024.104957_bib1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.ejmg.2024.104957_bib2","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2024.104957_bib3","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/jhg.2013.120","article-title":"The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies","volume":"59","author":"Bandelt","year":"2014","journal-title":"J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2024.104957_bib4","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.ajhg.2012.03.002","article-title":"A \"Copernican\" reassessment of the human mitochondrial DNA tree from its root","volume":"90","author":"Behar","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2024.104957_bib5","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/164_2016_1","article-title":"Leber hereditary optic neuropathy: a mitochondrial disease unique in many ways","volume":"240","author":"Bi","year":"2017","journal-title":"Handb. Exp. Pharmacol."},{"issue":"11","key":"10.1016\/j.ejmg.2024.104957_bib6","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1080\/14992020802215862","article-title":"Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review","volume":"47","author":"Bindu","year":"2008","journal-title":"Int. J. Audiol."},{"year":"2018","series-title":"Miracles to Yesterday Science and Faith Come Back Together","author":"Brinkman","key":"10.1016\/j.ejmg.2024.104957_bib7"},{"year":"2014","series-title":"Finding Richard III, the Official Account","author":"Carson","key":"10.1016\/j.ejmg.2024.104957_bib8"},{"issue":"1\u20132","key":"10.1016\/j.ejmg.2024.104957_bib9","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.gene.2007.06.009","article-title":"Maternally inherited aminoglycoside induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees","volume":"401","author":"Chen","year":"2007","journal-title":"Gene"},{"issue":"9","key":"10.1016\/j.ejmg.2024.104957_bib10","doi-asserted-by":"crossref","DOI":"10.1128\/AAC.00860-20","article-title":"Evidence for expanding the role of streptomycin in the management of drug-resistant Mycobacterium tuberculosis","volume":"64","author":"Cohen","year":"2020","journal-title":"Antimicrob. Agents Chemother."},{"issue":"3","key":"10.1016\/j.ejmg.2024.104957_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0118625","article-title":"Genetic stratigraphy of key demographic events in Arabia","volume":"10","author":"Fernandes","year":"2015","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/j.ejmg.2024.104957_bib12","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1097\/01.AUD.0000079802.82344.B5","article-title":"Mitochondrial deafness","volume":"24","author":"Fischel-Ghodsian","year":"2003","journal-title":"Ear Hear."},{"issue":"1","key":"10.1016\/j.ejmg.2024.104957_bib13","article-title":"Digging into the admixture strata of current-day Canary Islanders based on mitogenomes","volume":"26","author":"Garc\u00eda-Olivares","year":"2022","journal-title":"Science."},{"key":"10.1016\/j.ejmg.2024.104957_bib14","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/j.bbrc.2007.03.199","article-title":"The mitochondrial tRNAAla T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss","volume":"357","author":"Han","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"5","key":"10.1016\/j.ejmg.2024.104957_bib15","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1086\/339933","article-title":"Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups","volume":"70","author":"Herrnstadt","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"24","key":"10.1016\/j.ejmg.2024.104957_bib16","doi-asserted-by":"crossref","first-page":"3495","DOI":"10.1016\/S0042-6989(96)00167-8","article-title":"Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve","volume":"37","author":"Howell","year":"1997","journal-title":"Vis. Res."},{"issue":"6","key":"10.1016\/j.ejmg.2024.104957_bib17","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2024.104957_bib18","doi-asserted-by":"crossref","first-page":"5631","DOI":"10.1038\/ncomms6631","article-title":"Identification of the remains of king richard III","volume":"5","author":"King","year":"2014","journal-title":"Nat. Commun."},{"issue":"3","key":"10.1016\/j.ejmg.2024.104957_bib19","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1086\/377718","article-title":"Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences","volume":"73","author":"Kong","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2024.104957_bib20","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a027029","article-title":"Aminoglycosides: an overview","volume":"6","author":"Krause","year":"2016","journal-title":"Cold Spring Harb.Perspect. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2024.104957_bib21","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1093\/molbev\/msr290","article-title":"Deciphering the signature of selective constraints on cancerous mitochondrial genome","volume":"29","author":"Liu","year":"2012","journal-title":"Mol. Biol. Evol."},{"issue":"2","key":"10.1016\/j.ejmg.2024.104957_bib22","first-page":"72","article-title":"A suggested genome for \u201cmitochondrial eve\"","volume":"3","author":"Logan","year":"2007","journal-title":"J.Genet.Geneal."},{"issue":"4","key":"10.1016\/j.ejmg.2024.104957_bib23","first-page":"198","article-title":"Pseudogenization of the Humanin gene is common in the mitochondrial DNA of many vertebrates","volume":"38","author":"Logan","year":"2017","journal-title":"Zool. Res."},{"issue":"1","key":"10.1016\/j.ejmg.2024.104957_bib24","article-title":"King Richard III and his mitochondrial DNA haplogroup J1c2c3","volume":"1","author":"Logan","year":"2017","journal-title":"J. Fam. Hist."},{"key":"10.1016\/j.ejmg.2024.104957_bib25","article-title":"Humanin variant P3S is associated with longevity in APOE4 carriers and resists APOE4-induced brain pathology","volume":"22","author":"Miller","year":"2024","journal-title":"Aging Cell"},{"key":"10.1016\/j.ejmg.2024.104957_bib26","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0793-289","article-title":"Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness","volume":"4","author":"Prezant","year":"1993","journal-title":"Nat. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2024.104957_bib27","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2006.042440","article-title":"Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene","volume":"43","author":"Rodr\u00edguez-Ballesteros","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2024.104957_bib28","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/1471-2148-14-109","article-title":"The history of the North African mitochondrial DNA haplogroup U6 gene flow into the African, Eurasian and American continents","volume":"14","author":"Secher","year":"2014","journal-title":"BMC Evol. Biol."},{"key":"10.1016\/j.ejmg.2024.104957_bib29","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1196\/annals.1444.011","article-title":"Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome","volume":"1142","author":"Sproule","year":"2008","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"2","key":"10.1016\/j.ejmg.2024.104957_bib30","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/0006-291X(91)91497-Z","article-title":"Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)","volume":"174","author":"Tanaka","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"2","key":"10.1016\/j.ejmg.2024.104957_bib31","doi-asserted-by":"crossref","first-page":"E386","DOI":"10.1002\/humu.20921","article-title":"Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation","volume":"30","author":"van Oven","year":"2009","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ejmg.2024.104957_bib32","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/BF00763096","article-title":"Mitochondrial DNA mutations in diseases of energy metabolism","volume":"26","author":"Wallace","year":"1994","journal-title":"J. Bioenerg. Biomembr."},{"key":"10.1016\/j.ejmg.2024.104957_bib33","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/j.bbrc.2005.12.045","article-title":"Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation","volume":"340","author":"Wang","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"year":"2024","series-title":"Alive and Well in the English East Midlands: the Mitochondrial DNA of King Richard III","author":"Wilson","key":"10.1016\/j.ejmg.2024.104957_bib34"},{"issue":"3","key":"10.1016\/j.ejmg.2024.104957_bib35","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","article-title":"Inherited mitochondrial optic neuropathies","volume":"46","author":"Yu-Wai-Man","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2024.104957_bib36","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1086\/381133","article-title":"Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family","volume":"74","author":"Zhao","year":"2004","journal-title":"Am. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000491?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000491?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T07:41:32Z","timestamp":1722238892000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721224000491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":36,"alternative-id":["S1769721224000491"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104957","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104957","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104957"}}