{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T11:31:58Z","timestamp":1775302318688,"version":"3.50.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["Z204492"],"award-info":[{"award-number":["Z204492"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["ZB0202"],"award-info":[{"award-number":["ZB0202"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS44015"],"award-info":[{"award-number":["NS44015"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1016\/j.bbrc.2005.01.062","type":"journal-article","created":{"date-parts":[[2005,1,29]],"date-time":"2005-01-29T03:48:09Z","timestamp":1106970489000},"page":"1139-1145","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Only male matrilineal relatives with Leber\u2019s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation"],"prefix":"10.1016","volume":"328","author":[{"given":"Jia","family":"Qu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronghua","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongwu","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangtian","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaping","family":"Qian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Xin","family":"Guan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2005.01.062_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"},{"key":"10.1016\/j.bbrc.2005.01.062_bib2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(81)90300-7","article-title":"Sequence and gene organization of mouse mitochondrial DNA","volume":"26","author":"Bibb","year":"1981","journal-title":"Cell"},{"key":"10.1016\/j.bbrc.2005.01.062_bib3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s00439-001-0660-8","article-title":"The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J","volume":"110","author":"Brown","year":"2002","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib4","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/humu.1380060405","article-title":"Phylogenetic analysis of Leber\u2019s hereditary optic neuropathy mitochondrial DNA\u2019s indicates multiple independent occurrences of the common mutations","volume":"6","author":"Brown","year":"1995","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbrc.2005.01.062_bib5","doi-asserted-by":"crossref","first-page":"39831","DOI":"10.1074\/jbc.M006476200","article-title":"Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber\u2019s hereditary optic neuropathy mitochondrial DNA mutation","volume":"275","author":"Brown","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2005.01.062_bib6","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/BF02602930","article-title":"The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates","volume":"28","author":"Gadaleta","year":"1989","journal-title":"J. Mol. Evol."},{"key":"10.1016\/j.bbrc.2005.01.062_bib7","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"148","author":"Goto","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.bbrc.2005.01.062_bib8","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1093\/hmg\/5.7.963","article-title":"Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation","volume":"5","author":"Guan","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib9","doi-asserted-by":"crossref","first-page":"5868","DOI":"10.1128\/MCB.18.10.5868","article-title":"The deafness-associated mtDNA 7445 mutation, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expression","volume":"18","author":"Guan","year":"1998","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbrc.2005.01.062_bib10","first-page":"77","article-title":"Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation","volume":"57","author":"Harding","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib11","doi-asserted-by":"crossref","first-page":"13155","DOI":"10.1074\/jbc.271.22.13155","article-title":"Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber\u2019s hereditary optic neuropathy","volume":"271","author":"Hofhaus","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2005.01.062_bib12","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1136\/jmg.26.12.739","article-title":"Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber\u2019s hereditary optic neuropathy","volume":"26","author":"Holt","year":"1989","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib13","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":"Vision Res."},{"key":"10.1016\/j.bbrc.2005.01.062_bib14","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000072041","article-title":"LHON and other optic nerve atrophies: The mitochondrial connection","volume":"37","author":"Howell","year":"2003","journal-title":"Dev. Ophthalmol."},{"key":"10.1016\/j.bbrc.2005.01.062_bib15","first-page":"935","article-title":"Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppression mutation","volume":"48","author":"Howell","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib16","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1086\/375537","article-title":"Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy","volume":"72","author":"Howell","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib17","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1016\/0006-291X(91)91567-V","article-title":"Alternative, simultaneous Complex I mitochondrial DNA mutations in Leber\u2019s hereditary optic neuropathy","volume":"174","author":"Johns","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbrc.2005.01.062_bib18","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1093\/nar\/26.1.112","article-title":"MITOMAP: A human mitochondrial genome database\u20141998 update","volume":"26","author":"Kogelnik","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2005.01.062_bib19","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1093\/nar\/gkh226","article-title":"Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness","volume":"32","author":"Li","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2005.01.062_bib20","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib21","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.39.3.162","article-title":"Leber hereditary optic neuropathy","volume":"39","author":"Man","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib22","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.bbrc.2005.01.062_bib23","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/02713689808951221","article-title":"Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber\u2019s hereditary optic neuropathy","volume":"17","author":"Mashima","year":"1998","journal-title":"Curr. Eye Res."},{"key":"10.1016\/j.bbrc.2005.01.062_bib24","first-page":"431","article-title":"Leber\u2019s hereditary optic neuropathy","volume":"4","author":"Newman","year":"1993","journal-title":"Ophthalmol. Clin. NA"},{"key":"10.1016\/j.bbrc.2005.01.062_bib25","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber\u2019s hereditary optic neuropathy with the 11778 mutation","volume":"111","author":"Newman","year":"1991","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.bbrc.2005.01.062_bib26","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/S0002-9394(14)72895-8","article-title":"Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber\u2019s hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team","volume":"118","author":"Newman","year":"1994","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.bbrc.2005.01.062_bib27","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/118.2.319","article-title":"The clinical features of Leber\u2019s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation","volume":"118","author":"Riordan-Eva","year":"1995","journal-title":"Brain"},{"key":"10.1016\/j.bbrc.2005.01.062_bib28","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.bbrc.2005.01.062_bib29","doi-asserted-by":"crossref","first-page":"9759","DOI":"10.1016\/S0021-9258(17)39303-1","article-title":"The complete nucleotide sequence of the Xenopus laevis mitochondrial genome","volume":"260","author":"Roe","year":"1985","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2005.01.062_bib30","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0960-8966(03)00240-2","article-title":"Mitochondrial encephalomyopathies: Gene mutation","volume":"14","author":"Servidei","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbrc.2005.01.062_bib31","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1007\/s100380200091","article-title":"Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber\u2019s hereditary optic neuropathy","volume":"47","author":"Sudoyo","year":"2002","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib32","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib33","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1126\/science.283.5407.1482","article-title":"Mitochondrial diseases in man and mouse","volume":"283","author":"Wallace","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.bbrc.2005.01.062_bib34","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.bbrc.2005.01.062_bib35","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1101\/gr.227202","article-title":"Pattern of organization of human mitochondrial pseudogenes in the nuclear genome","volume":"12","author":"Woischnik","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.bbrc.2005.01.062_bib36","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1093\/nar\/15.2.529","article-title":"Length mutations in human mitochondrial DNA: Direct sequencing of enzymatically amplified DNA","volume":"15","author":"Wrischnik","year":"1987","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2005.01.062_bib37","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1086\/338999","article-title":"Phylogeographic differentiation of mitochondrial DNA in Han Chinese","volume":"70","author":"Yao","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2005.01.062_bib38","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":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X05001002?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X05001002?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T10:15:16Z","timestamp":1757758516000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X05001002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S0006291X05001002"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2005.01.062","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2005,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Only male matrilineal relatives with Leber\u2019s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation","name":"articletitle","label":"Article Title"},{"value":"Biochemical and Biophysical Research Communications","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbrc.2005.01.062","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}