{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:32:39Z","timestamp":1761597159009},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"S8","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"published-print":{"date-parts":[[2009,8]]},"DOI":"10.1186\/1471-2105-10-s8-s7","type":"journal-article","created":{"date-parts":[[2009,8,27]],"date-time":"2009-08-27T18:14:03Z","timestamp":1251396843000},"source":"Crossref","is-referenced-by-count":17,"title":["MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease"],"prefix":"10.1186","volume":"10","author":[{"given":"Anshu","family":"Bhardwaj","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitali","family":"Mukerji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shipra","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinny","family":"Paul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaitanya S","family":"Gokhale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achal K","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shrish","family":"Tiwari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,8,27]]},"reference":[{"key":"3347_CR1","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1126\/science.283.5407.1482","volume":"283","author":"DC Wallace","year":"1999","unstructured":"Wallace DC: Mitochondrial diseases in man and mouse. Science 1999, 283: 1482\u20131488. 10.1126\/science.283.5407.1482","journal-title":"Science"},{"key":"3347_CR2","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1146\/annurev.genet.39.110304.095751","volume":"39","author":"DC Wallace","year":"2005","unstructured":"Wallace DC: A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 2005, 39: 359\u2013407. 10.1146\/annurev.genet.39.110304.095751","journal-title":"Annu Rev Genet"},{"key":"3347_CR3","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1016\/0169-328X(94)90147-3","volume":"24","author":"K Chandrasekaran","year":"1994","unstructured":"Chandrasekaran K, Giordano T, Brady DR, Stoll J, Martin LJ, Rapoport SI: Impairment in mitochondrial cytochrome oxidase gene expression in Alzheimer disease. Brain Res Mol Brain Res 1994, 24: 336\u2013340. 10.1016\/0169-328X(94)90147-3","journal-title":"Brain Res Mol Brain Res"},{"issue":"8","key":"3347_CR4","doi-asserted-by":"publisher","first-page":"e128","DOI":"10.1371\/journal.pgen.0020128","volume":"2","author":"A Kazuno","year":"2006","unstructured":"Kazuno A, Munakata K, Nagai T, Shimozono S, Tanaka M, Yoneda M, Kato N, Miyawaki A, Kato T: Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet 2006, 2(8):e128. 10.1371\/journal.pgen.0020128","journal-title":"PLoS Genet"},{"issue":"3","key":"3347_CR5","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.mito.2008.04.001","volume":"8","author":"E Zifa","year":"2008","unstructured":"Zifa E, Theotokis P, Kaminari A, Maridaki H, Leze H, Petsiava E, Mamuris Z, Stathopoulos C: A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. Mitochondrion 2008, 8(3):229\u201336. 10.1016\/j.mito.2008.04.001","journal-title":"Mitochondrion"},{"key":"3347_CR6","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM)McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); 2009. [ http:\/\/www.ncbi.nlm.nih.gov\/omim ]"},{"key":"3347_CR7","unstructured":"MITOMAP: A Human Mitochondrial Genome Database.[ http:\/\/www.mitomap.org ]"},{"key":"3347_CR8","doi-asserted-by":"publisher","first-page":"D749","DOI":"10.1093\/nar\/gkj010","volume-title":"Nucleic Acids Res","author":"M Ingman","year":"2006","unstructured":"Ingman M, Gyllensten U: mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006, (34 Database):D749-D751. 10.1093\/nar\/gkj010"},{"key":"3347_CR9","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1136\/jmg.2005.032474","volume":"43","author":"AL Mitchell","year":"2006","unstructured":"Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM: Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J Med Genet 2006, 43: 175\u2013179. 10.1136\/jmg.2005.032474","journal-title":"J Med Genet"},{"key":"3347_CR10","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1002\/ajmg.1392","volume":"106","author":"S DiMauro","year":"2001","unstructured":"DiMauro S, Schon EA: Mitochondrial DNA mutations in human disease. Am J Med Genet 2001, 106: 18\u201326. 10.1002\/ajmg.1392","journal-title":"Am J Med Genet"},{"issue":"12","key":"3347_CR11","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/j.tig.2004.09.014","volume":"20","author":"R McFarland","year":"2004","unstructured":"McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM: Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough. Trends Genet 2004, 20(12):591\u2013596. 10.1016\/j.tig.2004.09.014","journal-title":"Trends Genet"},{"issue":"Suppl 1","key":"3347_CR12","doi-asserted-by":"publisher","first-page":"S172","DOI":"10.1016\/j.diabres.2007.01.052","volume":"77","author":"YM Cho","year":"2007","unstructured":"Cho YM, Park KS, Lee HK: Genetic factors related to mitochondrial function and risk of diabetes mellitus. Diabetes Res Clin Pract 2007, 77(Suppl 1):S172\u20137. 10.1016\/j.diabres.2007.01.052","journal-title":"Diabetes Res Clin Pract"},{"key":"3347_CR13","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1080\/00207450590523017","volume":"115","author":"HA Hanagasi","year":"2005","unstructured":"Hanagasi HA, Ayribas D, Baysal K, Emre M: Mitochondrial complex I, II\/III, and IV activities in familial and sporadic Parkinson's disease. Int J Neurosci 2005, 115: 479\u2013493. 10.1080\/00207450590523017","journal-title":"Int J Neurosci"},{"key":"3347_CR14","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1086\/504926","volume":"79","author":"R Saxena","year":"2006","unstructured":"Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D: Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet 2006, 79: 54\u201361. 10.1086\/504926","journal-title":"Am J Hum Genet"},{"issue":"4","key":"3347_CR15","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1111\/j.1742-4658.2008.06847.x","volume":"276","author":"B Guillon","year":"2009","unstructured":"Guillon B, Bulteau AL, Wattenhofer-Donz\u00e9 M, Schmucker S, Friguet B, Puccio H, Drapier JC, Bouton C: Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins. FEBS J 2009, 276(4):1036\u201347. 10.1111\/j.1742-4658.2008.06847.x","journal-title":"FEBS J"},{"key":"3347_CR16","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1196\/annals.1293.002","volume":"1011","author":"M Tanaka","year":"2004","unstructured":"Tanaka M, Takeyasu T, Fuku N, Li-Jun G, Kurata M: Mitochondrial genome Single Nucleotide Polymorphisms and their phenotypes in the Japanese. Ann NY Acad Sci 2004, 1011: 7\u201320. 10.1196\/annals.1293.002","journal-title":"Ann NY Acad Sci"},{"key":"3347_CR17","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1101\/gr.212802","volume":"12","author":"PC Ng","year":"2002","unstructured":"Ng PC, Henikoff S: Accounting for Human Polymorphisms predicted to Affect Protein Function. Genome Res 2002, 12: 436\u2013446. 10.1101\/gr.212802","journal-title":"Genome Res"},{"key":"3347_CR18","doi-asserted-by":"publisher","first-page":"3894","DOI":"10.1093\/nar\/gkf493","volume":"30","author":"V Ramensky","year":"2002","unstructured":"Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30: 3894\u2013900. 10.1093\/nar\/gkf493","journal-title":"Nucleic Acids Res"},{"issue":"22","key":"3347_CR19","doi-asserted-by":"publisher","first-page":"2729","DOI":"10.1093\/bioinformatics\/btl423","volume":"22","author":"E Capriotti","year":"2006","unstructured":"Capriotti E, Calabrese R, Casadio R: Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics 2006, 22(22):2729\u201334. 10.1093\/bioinformatics\/btl423","journal-title":"Bioinformatics"},{"key":"3347_CR20","volume-title":"PCT international patent publication","author":"SK Brahmachari","year":"2001","unstructured":"Brahmachari SK, Dash D: A computer based method for identifying peptides useful as drug targets. PCT international patent publication 2001. (WO 01\/74130 A2, 11th October 2001). (WO 01\/74130 A2, 11th October 2001)."},{"issue":"16","key":"3347_CR21","doi-asserted-by":"publisher","first-page":"2415","DOI":"10.1093\/hmg\/ddi243","volume":"14","author":"FA Kondrashov","year":"2005","unstructured":"Kondrashov FA: Prediction of pathogenic mutations in mitochondrially encoded human tRNAs. Hum Mol Genet 2005, 14(16):2415\u20132419. 10.1093\/hmg\/ddi243","journal-title":"Hum Mol Genet"},{"issue":"1","key":"3347_CR22","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1002\/ana.1084","volume":"50","author":"RW Taylor","year":"2001","unstructured":"Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM: Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 2001, 50(1):104\u20137. 10.1002\/ana.1084","journal-title":"Ann Neurol"},{"issue":"1","key":"3347_CR23","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/ana.10787","volume":"55","author":"R McFarland","year":"2004","unstructured":"McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR: De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004, 55(1):58\u201364. 10.1002\/ana.10787","journal-title":"Ann Neurol"},{"issue":"1","key":"3347_CR24","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/0022-510X(94)90014-0","volume":"124","author":"D de Vries","year":"1994","unstructured":"de Vries D, de Wijs I, Ruitenbeek W, Begeer J, Smit P, Bentlage H, van Oost B: Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J Neurol Sci 1994, 124(1):77\u201382. 10.1016\/0022-510X(94)90014-0","journal-title":"J Neurol Sci"},{"key":"3347_CR25","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1002\/ajmg.a.31565","volume":"143","author":"E Sarzi","year":"2007","unstructured":"Sarzi E, Brown M, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V: A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 2007, 143: 33\u201341. 10.1002\/ajmg.a.31565","journal-title":"Am J Med Genet A"},{"key":"3347_CR26","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1097\/01.gim.0000237782.94878.05","volume":"8","author":"RG van Eijsden","year":"2006","unstructured":"van Eijsden RG, Gerards M, Eijssen LM, Hendrickx AT, Jongbloed RJ, Wokke JH, Hintzen RQ, Rubio-Gozalbo ME, De Coo IF, Briem E, Tiranti V, Smeets HJ: Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patient. Genet Med 2006, 8: 620\u2013627.","journal-title":"Genet Med"},{"key":"3347_CR27","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/msb4100077","volume":"2","author":"BO Palsson","year":"2006","unstructured":"Palsson BO, Jamshidi N: Systems biology of SNPs. Mol Syst Biol 2006, 2: 38.","journal-title":"Mol Syst Biol"},{"issue":"3","key":"3347_CR28","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1016\/S0925-4439(02)00167-9","volume":"1588","author":"D Perucca-Lostanlen","year":"2002","unstructured":"Perucca-Lostanlen D, Taylor RW, Narbonne H, Mousson de Camaret B, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C: Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. Biochim Biophys Acta 2002, 1588(3):210\u20136.","journal-title":"Biochim Biophys Acta"},{"key":"3347_CR29","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1093\/hmg\/ddl130","volume":"15","author":"QP Kong","year":"2006","unstructured":"Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP: Updating the East Asian mtDNA phylogeny a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 2006, 15: 2076\u20132086. 10.1093\/hmg\/ddl130","journal-title":"Hum Mol Genet"},{"key":"3347_CR30","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1086\/501236","volume":"78","author":"V Carelli","year":"2006","unstructured":"Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A: Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 2006, 78: 564\u2013574. 10.1086\/501236","journal-title":"Am J Hum Genet"},{"issue":"4","key":"3347_CR31","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1038\/ng0407-445","volume":"39","author":"K Khrapko","year":"2007","unstructured":"Khrapko K, Vijg J: Mitochondrial DNA mutations and aging: a case closed? Nat Genet 2007, 39(4):445\u20136. 10.1038\/ng0407-445","journal-title":"Nat Genet"},{"key":"3347_CR32","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1038\/290470a0","volume":"290","author":"D Ojala","year":"1981","unstructured":"Ojala D, Montoya J, Attardi G: tRNA punctuation model of RNA processing in human mitochondria. Nature 1981, 290: 470\u2013474. 10.1038\/290470a0","journal-title":"Nature"},{"key":"3347_CR33","doi-asserted-by":"publisher","first-page":"4606","DOI":"10.1038\/sj.emboj.7600465","volume":"23","author":"M Gaspari","year":"2004","unstructured":"Gaspari M, Falkenberg M, Larsson NG, Gustafsson CM: The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells. EMBO J 2004, 23: 4606\u201314. 10.1038\/sj.emboj.7600465","journal-title":"EMBO J"},{"key":"3347_CR34","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/0039-128X(96)00019-0","volume":"61","author":"VD Constantine","year":"1996","unstructured":"Constantine VD, Karayanni N, Hatzoglou E, Tsiriyiotis C, Demetrios AS, Sekeris CE: Mitochondrial genes as sites of primary action of steroid hormones. Steroids 1996, 61: 226\u2013232. 10.1016\/0039-128X(96)00019-0","journal-title":"Steroids"},{"key":"3347_CR35","doi-asserted-by":"publisher","first-page":"690","DOI":"10.5483\/BMBRep.2005.38.6.690","volume":"38","author":"S Nam","year":"2005","unstructured":"Nam S, Kang C: DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. J Biochem Mol Biol 2005, 38: 690\u2013694.","journal-title":"J Biochem Mol Biol"},{"issue":"19","key":"3347_CR36","doi-asserted-by":"publisher","first-page":"6458","DOI":"10.1093\/nar\/gkm676","volume":"35","author":"AK Hyv\u00e4rinen","year":"2007","unstructured":"Hyv\u00e4rinen AK, Pohjoism\u00e4ki JL, Reyes A, Wanrooij S, Yasukawa T, Karhunen PJ, Spelbrink JN, Holt IJ, Jacobs HT: The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA. Nucleic Acids Res 2007, 35(19):6458\u201374. 10.1093\/nar\/gkm676","journal-title":"Nucleic Acids Res"},{"key":"3347_CR37","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s002390010220","volume":"53","author":"RD Knight","year":"2001","unstructured":"Knight RD, Landweber LF, Yarus M: How mitochondria redefine the code. J Mol Evol 2001, 53: 299\u2013313. 10.1007\/s002390010220","journal-title":"J Mol Evol"},{"key":"3347_CR38","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1038\/nsb1096-842","volume":"3","author":"WC Wimley","year":"1996","unstructured":"Wimley WC, White SH: Experimentally determined hydrophobicity scale for proteins at membrane interfaces. Nat Struct Biol 1996, 3: 842\u2013848. 10.1038\/nsb1096-842","journal-title":"Nat Struct Biol"}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2105-10-S8-S7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2105-10-S8-S7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2105-10-S8-S7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T20:45:08Z","timestamp":1590093908000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/1471-2105-10-S8-S7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":38,"journal-issue":{"issue":"S8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["3347"],"URL":"https:\/\/doi.org\/10.1186\/1471-2105-10-s8-s7","relation":{},"ISSN":["1471-2105"],"issn-type":[{"value":"1471-2105","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8]]},"article-number":"S7"}}