{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T22:32:20Z","timestamp":1769207540741,"version":"3.49.0"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/NNT\/28\/SP18830\/2018"],"award-info":[{"award-number":["BT\/NNT\/28\/SP18830\/2018"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.gene.2022.146202","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T19:55:39Z","timestamp":1643486139000},"page":"146202","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Mutation profile of neurodegenerative mitochondriopathy \u2013 LHON in Southern India"],"prefix":"10.1016","volume":"819","author":[{"given":"Poigaialwar","family":"Gowri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ponraj","family":"Sathish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanmugam","family":"Mahesh Kumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Periasamy","family":"Sundaresan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.gene.2022.146202_b0005","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"issue":"10","key":"10.1016\/j.gene.2022.146202_b0010","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1096\/fasebj.6.10.1634041","article-title":"Leber\u2019s hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases","volume":"6","author":"Brown","year":"1992","journal-title":"FASEB J."},{"key":"10.1016\/j.gene.2022.146202_b0015","first-page":"378","article-title":"A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I","volume":"51","author":"Brown","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2022.146202_b0020","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.mito.2017.07.004","article-title":"Incomplete penetrance in mitochondrial optic neuropathies","volume":"36","author":"Caporali","year":"2017","journal-title":"Mitochondrion"},{"issue":"16","key":"10.1016\/j.gene.2022.146202_b0025","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.gene.2022.146202_b0030","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fendo.2019.00086","article-title":"Mitoepigenetics and neurodegenerative diseases","volume":"10","author":"Copped\u00e8","year":"2019","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.gene.2022.146202_b0035","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40662-015-0028-0","article-title":"Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber\u2019s hereditary optic neuropathy patients","volume":"2","author":"Eustace Ryan","year":"2015","journal-title":"Eye and Vision"},{"key":"10.1016\/j.gene.2022.146202_b0040","first-page":"125","article-title":"Correlation between increased ND2 expression and demethylated displacement loop of mtDNA in colorectal cancer","volume":"6","author":"Feng","year":"2012","journal-title":"Mol. Med. Rep."},{"key":"10.1016\/j.gene.2022.146202_b0045","unstructured":"Gowri, P., Kumar, S.M., Vanniarajan, A., Bharanidharan, D., 2020. A hospital-based five-year prospective study on the prevalence of Leber \u2019 s hereditary optic neuropathy with genetic confirmation. 789\u2013796."},{"key":"10.1016\/j.gene.2022.146202_b0050","article-title":"A New mtDNA Mutation Associated with Leber Hereditary Optic Neuroretinopathy","author":"Huoponen","year":"1991","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.gene.2022.146202_b0055","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ejpn.2014.01.005","article-title":"Leber hereditary optic neuropathy in the population of Serbia","volume":"18","author":"Jan\u010di\u0107","year":"2014","journal-title":"Eur. J. Paediatric Neurol."},{"issue":"3","key":"10.1016\/j.gene.2022.146202_b0060","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1016\/0006-291X(92)90479-5","article-title":"An ND-6 mitochondrial DNA mutation associated with leber hereditary optic neuropathy","volume":"187","author":"Johns","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"3","key":"10.1016\/j.gene.2022.146202_b0065","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/s00415-003-0985-4","article-title":"Spectrum of the mitochondrial DNA mutations of Leber\u2019s hereditary optic neuropathy in Koreans","volume":"250","author":"Kim","year":"2003","journal-title":"J. Neurol."},{"issue":"3","key":"10.1016\/j.gene.2022.146202_b0070","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s100480050029","article-title":"Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease","volume":"1","author":"K\u00f6sel","year":"1998","journal-title":"Neurogenetics"},{"key":"10.1016\/j.gene.2022.146202_b0075","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-7-46","article-title":"Dominant optic atrophy","volume":"7","author":"Lenaers","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.gene.2022.146202_b0080","first-page":"1218","article-title":"A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology","volume":"51","author":"Mackey","year":"1992","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.gene.2022.146202_b0085","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1086\/346066","article-title":"The epidemiology of leber hereditary optic neuropathy in the North East of England","volume":"72","author":"Man","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2022.146202_b0090","doi-asserted-by":"crossref","unstructured":"Matsumoto, M., Kadoi, C., Hotta, Y., Kanai, A., 1999. Research report Secondary mutations of mitochondrial DNA in Japanese patients with Leber\u2019s hereditary optic neuropathy 20, 153\u2013160.","DOI":"10.1076\/opge.20.3.153.2281"},{"issue":"14","key":"10.1016\/j.gene.2022.146202_b0095","doi-asserted-by":"crossref","first-page":"R551","DOI":"10.1016\/j.cub.2006.06.054","article-title":"Mitochondria: More Than Just a Powerhouse","volume":"16","author":"McBride","year":"2006","journal-title":"Curr. Biol."},{"key":"10.1016\/j.gene.2022.146202_b0100","doi-asserted-by":"crossref","unstructured":"Miller, S.A., Dykes, D.D., Polesky, H.F., 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16, 1215. https:\/\/doi.org\/10.1093\/nar\/16.3.1215.","DOI":"10.1093\/nar\/16.3.1215"},{"issue":"11","key":"10.1016\/j.gene.2022.146202_b0105","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.4103\/ijo.IJO_380_17","article-title":"Frequency of primary mutations of Leber\u2019s hereditary optic neuropathy patients in North Indian population","volume":"65","author":"Mishra","year":"2017","journal-title":"Indian J. Ophthalmol."},{"key":"10.1016\/j.gene.2022.146202_b0110","article-title":"PhyloTree Build 17: growing the human mitochondrial DNA tree","author":"Oven","year":"2015","journal-title":"Elsevier Ireland Ltd"},{"issue":"1","key":"10.1016\/j.gene.2022.146202_b0115","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/S0006-291X(05)80834-4","article-title":"Is a point mutation in the mitochondrial ND2 gene associated with alzheimer\u2019s disease?","volume":"186","author":"Petruzzella","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"10","key":"10.1016\/j.gene.2022.146202_b0120","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/sj.ejhg.5201828","article-title":"Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland","volume":"15","author":"Puomila","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2022.146202_b0125","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2022.146202_b0130","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1167\/iovs.15-18306","article-title":"Prevalence and genetics of leber hereditary optic neuropathy in the Danish population","volume":"57","author":"Rosenberg","year":"2016","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.gene.2022.146202_b0135","doi-asserted-by":"crossref","unstructured":"Sim, N.-L., Kumar, P., Hu, J., Henikoff, S., Schneider, G., Ng, P.C., n.d. SIFT web server: predicting effects of amino acid substitutions on proteins. https:\/\/doi.org\/10.1093\/nar\/gks539.","DOI":"10.1093\/nar\/gks539"},{"key":"10.1016\/j.gene.2022.146202_b0140","unstructured":"Stata 14 | Stata [WWW Document], n.d. URL https:\/\/www.stata.com\/stata14\/ (accessed 7.6.20)."},{"key":"10.1016\/j.gene.2022.146202_b0145","doi-asserted-by":"crossref","unstructured":"Taanman, J.W., 1999. The mitochondrial genome: Structure, transcription, translation and replication. Biochimica et Biophysica Acta - Bioenergetics. https:\/\/doi.org\/10.1016\/S0005-2728(98)00161-3.","DOI":"10.1016\/S0005-2728(98)00161-3"},{"key":"10.1016\/j.gene.2022.146202_b0150","doi-asserted-by":"crossref","unstructured":"Venselaar, H., Ah, T., Kuipers, R.K.P., Hekkelman, M.L., Vriend, G., 2010. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.","DOI":"10.1186\/1471-2105-11-548"},{"issue":"4","key":"10.1016\/j.gene.2022.146202_b0155","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.jclinepi.2007.11.008","article-title":"The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies","volume":"61","author":"von Elm","year":"2008","journal-title":"J. Clin. Epidemiol."},{"key":"10.1016\/j.gene.2022.146202_b0160","doi-asserted-by":"crossref","unstructured":"Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J., Nikoskelainen, E.K., 1988. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242, 1427 LP \u2013 1430. https:\/\/doi.org\/10.1126\/science.3201231.","DOI":"10.1126\/science.3201231"},{"key":"10.1016\/j.gene.2022.146202_b0165","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2156-9-86","article-title":"Genetic variation in South Indian castes: Evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms","volume":"9","author":"Watkins","year":"2008","journal-title":"BMC Genet."},{"key":"10.1016\/j.gene.2022.146202_b0170","doi-asserted-by":"crossref","unstructured":"Weissensteiner, H., Pacher, D., Kloss-brandst, A., Forer, L., Kronenberg, F., Salas, A., Sch, S., 2016. HaploGrep 2\u00a0: mitochondrial haplogroup classification in the era of high-throughput sequencing G unther 44, 58\u201363. https:\/\/doi.org\/10.1093\/nar\/gkw233.","DOI":"10.1093\/nar\/gkw233"},{"issue":"6","key":"10.1016\/j.gene.2022.146202_b0175","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1007\/s00401-016-1625-2","article-title":"A neurodegenerative perspective on mitochondrial optic neuropathies","volume":"132","author":"Yu-Wai-Man","year":"2016","journal-title":"Acta Neuropathologica"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192200021X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192200021X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:49:52Z","timestamp":1759855792000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811192200021X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":35,"alternative-id":["S037811192200021X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2022.146202","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutation profile of neurodegenerative mitochondriopathy \u2013 LHON in Southern India","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2022.146202","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"146202"}}