{"id":"https://openalex.org/W4390988928","doi":"https://doi.org/10.17116/oftalma2023139061166","title":"Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber\u2019s hereditary optic neuropathy","display_name":"Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber\u2019s hereditary optic neuropathy","publication_year":2023,"publication_date":"2023-12-29","ids":{"openalex":"https://openalex.org/W4390988928","doi":"https://doi.org/10.17116/oftalma2023139061166","pmid":"https://pubmed.ncbi.nlm.nih.gov/38235644"},"language":"ru","primary_location":{"id":"doi:10.17116/oftalma2023139061166","doi":"https://doi.org/10.17116/oftalma2023139061166","is_oa":false,"landing_page_url":"https://doi.org/10.17116/oftalma2023139061166","pdf_url":null,"source":{"id":"https://openalex.org/S2764585551","display_name":"Russian Annals of Ophthalmology","issn_l":"0042-465X","issn":["0042-465X","2309-1282"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["medline","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320238","host_organization_name":"Meditsina","host_organization_lineage":["https://openalex.org/P4310320238"],"host_organization_lineage_names":["Meditsina"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Russian Annals of Ophthalmology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034551401","display_name":"Natalia A. Andreeva","orcid":"https://orcid.org/0000-0001-7329-5725","observed_orcids":["https://orcid.org/0000-0001-7329-5725"]},"institutions":[{"id":"https://openalex.org/I4210133635","display_name":"Federal State Scientific Institution Research Institute of Eye Diseases","ror":"https://ror.org/0422tyr14","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210133635"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"N.A. Andreeva","raw_affiliation_strings":["Krasnov Research Institute of Eye Diseases","Krasnov Research Institute of Eye Diseases, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0001-7329-5725","affiliations":[{"raw_affiliation_string":"Krasnov Research Institute of Eye Diseases","institution_ids":["https://openalex.org/I4210133635"]},{"raw_affiliation_string":"Krasnov Research Institute of Eye Diseases, Moscow, Russia","institution_ids":["https://openalex.org/I4210133635"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075329873","display_name":"Yu K Murakhovskaya","orcid":"https://orcid.org/0000-0002-1251-6405","observed_orcids":["https://orcid.org/0000-0002-1251-6405"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210133635","display_name":"Federal State Scientific Institution Research Institute of Eye Diseases","ror":"https://ror.org/0422tyr14","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210133635"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Yu.K. Murakhovskaya","raw_affiliation_strings":["I.M. Sechenov First Moscow State Medical University (Sechenov University)","Krasnov Research Institute of Eye Diseases","I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia","Krasnov Research Institute of Eye Diseases, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-1251-6405","affiliations":[{"raw_affiliation_string":"I.M. Sechenov First Moscow State Medical University (Sechenov University)","institution_ids":["https://openalex.org/I17877952"]},{"raw_affiliation_string":"Krasnov Research Institute of Eye Diseases","institution_ids":["https://openalex.org/I4210133635"]},{"raw_affiliation_string":"I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia","institution_ids":["https://openalex.org/I17877952"]},{"raw_affiliation_string":"Krasnov Research Institute of Eye Diseases, Moscow, Russia","institution_ids":["https://openalex.org/I4210133635"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082486399","display_name":"Tatiana Krylova","orcid":"https://orcid.org/0000-0002-7197-3497","observed_orcids":["https://orcid.org/0000-0002-7197-3497"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"T.D. Krylova","raw_affiliation_strings":["Research Centre for Medical Genetics","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-7197-3497","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089485744","display_name":"Polina G. Tsygankova","orcid":"https://orcid.org/0000-0003-3998-3609","observed_orcids":["https://orcid.org/0000-0003-3998-3609"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"P.G. Tsygankova","raw_affiliation_strings":["Research Centre for Medical Genetics","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0003-3998-3609","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044370179","display_name":"Natalia L. Sheremet","orcid":"https://orcid.org/0000-0003-4597-4987","observed_orcids":["https://orcid.org/0000-0003-4597-4987"]},"institutions":[{"id":"https://openalex.org/I4210133635","display_name":"Federal State Scientific Institution Research Institute of Eye Diseases","ror":"https://ror.org/0422tyr14","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210133635"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"N.L. Sheremet","raw_affiliation_strings":["Krasnov Research Institute of Eye Diseases","Krasnov Research Institute of Eye Diseases, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0003-4597-4987","affiliations":[{"raw_affiliation_string":"Krasnov Research Institute of Eye Diseases","institution_ids":["https://openalex.org/I4210133635"]},{"raw_affiliation_string":"Krasnov Research Institute of Eye Diseases, Moscow, Russia","institution_ids":["https://openalex.org/I4210133635"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3022,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.4094722,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"139","issue":"6","first_page":"166","last_page":"166"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.923799991607666,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.923799991607666,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.037300001829862595,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.009600000455975533,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.925000011920929},{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.9319999814033508},{"id":"https://openalex.org/keywords/rare-pathogenic-variants","display_name":"rare pathogenic variants","score":0.8960000276565552},{"id":"https://openalex.org/keywords/nd4","display_name":"ND4","score":0.5239999890327454},{"id":"https://openalex.org/keywords/nadh-dehydrogenase-subunit-1","display_name":"ND1","score":0.996999979019165},{"id":"https://openalex.org/keywords/nd6","display_name":"ND6","score":0.9990000128746033},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.6110000014305115},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.41100001335144043}],"concepts":[{"id":"https://openalex.org/C2777056713","wikidata":"https://www.wikidata.org/wiki/Q1262161","display_name":"Leber's hereditary optic neuropathy","level":4,"score":0.7957175970077515},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.7426902651786804},{"id":"https://openalex.org/C2778233873","wikidata":"https://www.wikidata.org/wiki/Q2879095","display_name":"Optic neuropathy","level":3,"score":0.7259153127670288},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7100975513458252},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5374228954315186},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5241601467132568},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.47410327196121216},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.44405052065849304},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42387765645980835},{"id":"https://openalex.org/C2910788575","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Hereditary Diseases","level":3,"score":0.41644757986068726},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.4152098298072815},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.4025900363922119},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3232830762863159},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.14007702469825745},{"id":"https://openalex.org/C2780837183","wikidata":"https://www.wikidata.org/wiki/Q186029","display_name":"Optic nerve","level":2,"score":0.1341407299041748},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.09524312615394592}],"mesh":[{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009711","descriptor_name":"Nucleotides","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.17116/oftalma2023139061166","doi":"https://doi.org/10.17116/oftalma2023139061166","is_oa":false,"landing_page_url":"https://doi.org/10.17116/oftalma2023139061166","pdf_url":null,"source":{"id":"https://openalex.org/S2764585551","display_name":"Russian Annals of Ophthalmology","issn_l":"0042-465X","issn":["0042-465X","2309-1282"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["medline","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320238","host_organization_name":"Meditsina","host_organization_lineage":["https://openalex.org/P4310320238"],"host_organization_lineage_names":["Meditsina"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Russian Annals of Ophthalmology","raw_type":"journal-article"},{"id":"pmid:38235644","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38235644","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Vestnik oftalmologii","raw_type":"English Abstract"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":56,"referenced_works":["https://openalex.org/W184645002","https://openalex.org/W1967979168","https://openalex.org/W1974620575","https://openalex.org/W1976628426","https://openalex.org/W1995208181","https://openalex.org/W1998562055","https://openalex.org/W2006531111","https://openalex.org/W2017347785","https://openalex.org/W2029777214","https://openalex.org/W2036004321","https://openalex.org/W2049745940","https://openalex.org/W2050502424","https://openalex.org/W2052637022","https://openalex.org/W2053748181","https://openalex.org/W2062044252","https://openalex.org/W2065062182","https://openalex.org/W2068710279","https://openalex.org/W2079874805","https://openalex.org/W2092311199","https://openalex.org/W2125489257","https://openalex.org/W2131171652","https://openalex.org/W2136980757","https://openalex.org/W2138458914","https://openalex.org/W2138558536","https://openalex.org/W2163063761","https://openalex.org/W2165477341","https://openalex.org/W2166929104","https://openalex.org/W2168349507","https://openalex.org/W2342456218","https://openalex.org/W2461657610","https://openalex.org/W2617254659","https://openalex.org/W2766184999","https://openalex.org/W2767388250","https://openalex.org/W2785875483","https://openalex.org/W2891597086","https://openalex.org/W2944931305","https://openalex.org/W2981785259","https://openalex.org/W2993615485","https://openalex.org/W3021512736","https://openalex.org/W3041691192","https://openalex.org/W3085012426","https://openalex.org/W3123153443","https://openalex.org/W3134084043","https://openalex.org/W3140874630","https://openalex.org/W3153414022","https://openalex.org/W3172014240","https://openalex.org/W3184809248","https://openalex.org/W3205969849","https://openalex.org/W4210822947","https://openalex.org/W4242520386","https://openalex.org/W4296901011","https://openalex.org/W4307501384","https://openalex.org/W4307839636","https://openalex.org/W4307964480","https://openalex.org/W4327900291","https://openalex.org/W4372332394"],"related_works":["https://openalex.org/W2125489257","https://openalex.org/W2162383869","https://openalex.org/W7100503209","https://openalex.org/W2379198634","https://openalex.org/W3172014240","https://openalex.org/W4321749256","https://openalex.org/W2086917453","https://openalex.org/W99734105","https://openalex.org/W2580598742","https://openalex.org/W2028093188"],"abstract_inverted_index":{"Patients":[0],"with":[1,100,162],"Leber":[2],"Hereditary":[3],"Optic":[4],"Neuropathy":[5],"(LHON)":[6],"in":[7,19,24,30,40,74,86,107,124,129],"most":[8,15,45],"cases":[9],"have":[10],"one":[11],"of":[12,135,139,143,146,155,158,165],"the":[13,20,25,31,36,75,89,108,118,125,136,147,152],"three":[14,44],"common":[16,46],"mutations:":[17],"m.11778G>A":[18],"ND4":[21],"gene,":[22,27],"m.3460G>A":[23],"ND1":[26],"or":[28,68],"m.14484T>C":[29],"ND6":[32],"gene.":[33],"According":[34],"to":[35,42,82,116],"international":[37],"Mitomap":[38],"database,":[39],"addition":[41],"these":[43],"mutations,":[47],"there":[48],"are":[49,55,60,64,103],"16":[50],"other":[51],"primary":[52,93],"mutations":[53,98],"that":[54,63],"even":[56],"more":[57],"rare.":[58],"There":[59],"nucleotide":[61],"substitutions":[62],"classified":[65],"as":[66],"candidate":[67],"conditionally":[69],"pathogenic":[70],"mutations.":[71],"Their":[72],"involvement":[73],"disease":[76,148],"development":[77],"is":[78,149],"not":[79,104],"proven":[80],"due":[81],"insufficient":[83],"research.":[84],"Moreover,":[85],"many":[87],"publications,":[88],"authors":[90],"describe":[91],"new":[92],"and":[94],"potential":[95],"mitochondrial":[96],"DNA":[97],"associated":[99],"LHON,":[101],"which":[102],"yet":[105],"included":[106],"genetic":[109,122,130,144],"data":[110],"bases.":[111],"This":[112],"makes":[113],"it":[114],"possible":[115],"expand":[117],"diagnostic":[119,131],"spectrum":[120],"during":[121],"testing":[123],"future.":[126],"The":[127,141],"advancements":[128],"technologies":[132],"allow":[133],"confirmation":[134],"clinical":[137],"diagnosis":[138,157],"LHON.":[140],"importance":[142],"verification":[145],"determined":[150],"by":[151],"existing":[153],"problem":[154],"differential":[156],"hereditary":[159],"optic":[160,163],"neuropathies":[161,164],"a":[166],"different":[167],"origin.":[168]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2024-01-19T00:00:00"}