{"id":3169,"date":"2024-01-20T18:20:00","date_gmt":"2024-01-20T15:20:00","guid":{"rendered":"https:\/\/mitofungen.com\/?page_id=3169"},"modified":"2025-04-11T18:37:29","modified_gmt":"2025-04-11T15:37:29","slug":"publications","status":"publish","type":"page","link":"https:\/\/mitofungen.com\/ru\/publications\/","title":{"rendered":"\u041f\u0443\u0431\u043b\u0438\u043a\u0430\u0446\u0438\u0438"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"3169\" class=\"elementor elementor-3169\">\n\t\t\t\t<div class=\"elementor-element elementor-element-080ad3f e-flex e-con-boxed wpr-particle-no wpr-jarallax-no wpr-parallax-no wpr-sticky-section-no wpr-column-slider-no wpr-equal-height-no e-con e-parent\" data-id=\"080ad3f\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-c40acc3 elementor-widget elementor-widget-spacer\" data-id=\"c40acc3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-0ddc10c elementor-widget elementor-widget-heading\" data-id=\"0ddc10c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">\u041f\u0443\u0431\u043b\u0438\u043a\u0430\u0446\u0438\u0438<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8b112fe elementor-widget elementor-widget-spacer\" data-id=\"8b112fe\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-eeeecb7 elementor-widget elementor-widget-text-editor\" data-id=\"eeeecb7\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>37<\/strong>. <a href=\"https:\/\/doi.org\/10.1093\/molbev\/msae261\">Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes<\/a><br \/>Iliushchenko D, Efimenko B, Mikhailova AG, Shamanskiy V, Saparbaev MK, Matkarimov BT, Mazunin I, Voronka A, Knorre D, Kunz WS, Kapranov P, Denisov S, Fellay J, Khrapko K, Gunbin K, <strong>Popadin K.<\/strong>, <strong>Mol Biol Evol.<\/strong>, 2025<\/p><p><strong>36<\/strong>. <a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae438\">NeMu: a comprehensive pipeline for accurate reconstruction of neutral mutation spectra from evolutionary data<\/a><br \/>Efimenko B, <strong>Popadin K<\/strong>, Gunbin K, <strong>Nucleic Acids Res<\/strong>, 2024<\/p><p><strong>35<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.mito.2023.10.005\">Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive<\/a><br \/>Fleischmann Z, Cote-L&#8217;Heureux A, Franco M, Oreshkov S, Annis S, Khrapko M, Aidlen D, <strong>Popadin K<\/strong>, Woods DC, Tilly JL, Khrapko K., <strong>Mitochondrion<\/strong>, 2024<\/p><p><strong>34<\/strong>. <a href=\"https:\/\/doi.org\/10.1186\/s12915-023-01606-1\">Secondary structure of the human mitochondrial genome affects formation of deletions<\/a><br \/>Shamanskiy V, Mikhailova AA, Tretiakov EO, Ushakova K, Mikhailova AG, Oreshkov S, Knorre DA, Ree N, Overdevest JB, Lukowski SW, Gostimskaya I, Yurov V, Liou CW, Lin TK, Kunz WS, Reymond A, Mazunin I, Bazykin GA, Fellay J, Tanaka M, Khrapko K, Gunbin K, <strong>Popadin K<\/strong>., <strong>BMC Biol<\/strong>, 2023<\/p><p><strong>33<\/strong>. <a href=\"https:\/\/doi.org\/10.3390\/genes14030720\">Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene<\/a><br \/>Tofilo M, Voronova N, Nigmatullina L, Kuznetsova E, Timonina V, Efimenko B, Turgunkhujaev O, Avdeichik S, Ansar M, <strong>Popadin K<\/strong>, Kirillova A, Mazunin I., <strong>Genes (Basel)<\/strong>, 2023<\/p><p><strong>32<\/strong>. <a href=\"https:\/\/doi.org\/10.1093\/hmg\/ddac149\">Dynamics of the most common pathogenic mtDNA variant m.3243A\u2009&gt;\u2009G demonstrate frequency-dependency in blood and positive selection in the germline<\/a><br \/>Franco M, Pickett SJ, Fleischmann Z, Khrapko M, Cote-L&#8217;Heureux A, Aidlen D, Stein D, Markuzon N, <strong>Popadin K<\/strong>, Braverman M, Woods DC, Tilly JL, Turnbull DM, Khrapko K., <strong>Hum Mol Genet<\/strong>, 2022<\/p><p><strong>31<\/strong>. <a href=\"https:\/\/doi.org\/10.1093\/nar\/gkac779\">A mitochondria-specific mutational signature of aging: increased rate of A &gt; G substitutions on the heavy strand<\/a><br \/>Mikhailova AG, Mikhailova AA, Ushakova K, Tretiakov EO, Iliushchenko D, Shamansky V, Lobanova V, Kozenkov I, Efimenko B, Yurchenko AA, Kozenkova E, Zdobnov EM, Makeev V, Yurov V, Tanaka M, Gostimskaya I, Fleischmann Z, Annis S, Franco M, Wasko K, Denisov S, Kunz WS, Knorre D, Mazunin I, Nikolaev S, Fellay J, Reymond A, Khrapko K, Gunbin K, <strong>Popadin K<\/strong>., <strong>Nucleic Acids Res<\/strong>, 2022<\/p><p><strong>30<\/strong>. <a href=\"https:\/\/doi.org\/10.3390\/genes13050810\">Mitochondrial Pseudogenes Suggest Repeated Inter-Species Hybridization among Direct Human Ancestors<\/a><br \/><strong>Popadin K<\/strong>, Gunbin K, Peshkin L, Annis S, Fleischmann Z, Franco M, Kraytsberg Y, Markuzon N, Ackermann RR, Khrapko K., <strong>Genes (Basel)<\/strong>, 2022<\/p><p><strong>29<\/strong>. <a href=\"https:\/\/doi.org\/10.1038\/s41598-021-04308-2\">Increased prevalence of clonal hematopoiesis of indeterminate potential amongst people living with HIV<\/a><br \/>Bick AG, <strong>Popadin K<\/strong>, Thorball CW, Uddin MM, Zanni MV, Yu B, Cavassini M, Rauch A, Tarr P, Schmid P, Bernasconi E, G\u00fcnthard HF, Libby P, Boerwinkle E, McLaren PJ, Ballantyne CM, Grinspoon S, Natarajan P, Fellay J; Swiss HIV Cohort Study., <strong>Sci Rep<\/strong>, 2022<\/p><p><strong>28<\/strong>. <a href=\"https:\/\/doi.org\/10.1038\/s41586-020-2266-0\">Molecular design of hypothalamus development<\/a><br \/>Romanov RA, Tretiakov EO, Kastriti ME, Zupancic M, H\u00e4ring M, Korchynska S, <strong>Popadin K<\/strong>, Benevento M, Rebernik P, Lallemend F, Nishimori K, Clotman F, Andrews WD, Parnavelas JG, Farlik M, Bock C, Adameyko I, H\u00f6kfelt T, Keimpema E, Harkany T., <strong>Nature<\/strong>, 2020<\/p><p><strong>27<\/strong>. <a href=\"https:\/\/doi.org\/10.3390\/cells8050430\">From Normal to Obesity and Back: The Associations between Mitochondrial DNA Copy Number, Gender, and Body Mass Index<\/a><br \/>Skuratovskaia D, Litvinova L, Vulf M, Zatolokin P, <strong>Popadin K<\/strong>, Mazunin I., <strong>Cells<\/strong>, 2019<\/p><p><strong>26<\/strong>. <a href=\"https:\/\/doi.org\/10.1186\/s12864-019-5536-1\">ImtRDB: a database and software for mitochondrial imperfect interspersed repeats annotation<\/a><br \/>Shamanskiy VA, Timonina VN, <strong>Popadin KY<\/strong>, Gunbin KV., <strong>BMC Genomics<\/strong>, 2019<\/p><p><strong>25<\/strong>. <a href=\"https:\/\/doi.org\/10.1186\/s12862-019-1371-x\">mtProtEvol: the resource presenting molecular evolution analysis of proteins involved in the function of Vertebrate mitochondria<\/a><br \/>Kuzminkova AA, Sokol AD, Ushakova KE, <strong>Popadin KY<\/strong>, Gunbin KV., <strong>BMC Evol Biol<\/strong>, 2019<\/p><p><strong>24<\/strong>. <a href=\"https:\/\/doi.org\/10.1101\/gr.228411.117\">Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection<\/a><br \/><strong>Popadin K<\/strong>, Peischl S, Garieri M, Sailani MR, Letourneau A, Santoni F, Lukowski SW, Bazykin GA, Nikolaev S, Meyer D, Excoffier L, Reymond A, Antonarakis SE., <strong>Genome Res<\/strong>, 2018<\/p><p><strong>23<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2017.08.016\">The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs<\/a><br \/>Loviglio MN, Arbogast T, J\u00f8nch AE, Collins SC, <strong>Popadin K<\/strong>, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium; Yalcin B, Katsanis N, Golzio C, Reymond A., <strong>Am J Hum Genet<\/strong>, 2017<\/p><p><strong>22<\/strong>. <a href=\"https:\/\/doi.org\/10.7554\/eLife.24994\">The genomic landscape of human cellular circadian variation points to a novel role for the signalosome<\/a><br \/>Gaspar L, Howald C, <strong>Popadin K<\/strong>, Maier B, Mauvoisin D, Moriggi E, Gutierrez-Arcelus M, Falconnet E, Borel C, Kunz D, Kramer A, Gachon F, Dermitzakis ET, Antonarakis SE, Brown SA., <strong>Elife<\/strong>, 2017<\/p><p><strong>21<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.dib.2017.05.024\">Data on the time of integration of the human mitochondrial pseudogenes (NUMTs) into the nuclear genome<\/a><br \/>Gunbin K, Peshkin L, <strong>Popadin K<\/strong>, Annis S, Ackermann RR, Khrapko K., <strong>Data Brief<\/strong>, 2017<\/p><p><strong>20<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.mito.2016.12.001\">Integration of mtDNA pseudogenes into the nuclear genome coincides with speciation of the human genus. A hypothesis<\/a><br \/>Gunbin K, Peshkin L, <strong>Popadin K<\/strong>, Annis S, Ackermann RR, Khrapko K., <strong>Mitochondrion<\/strong>, 2017<\/p><p><strong>19<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.gde.2016.06.011\">Amelioration of premature aging in mtDNA mutator mouse by exercise: the interplay of oxidative stress, PGC-1\u03b1, p53, and DNA damage. A hypothesis<\/a><br \/>Safdar A, Annis S, Kraytsberg Y, Laverack C, Saleem A, <strong>Popadin K<\/strong>, Woods DC, Tilly JL, Khrapko K., <strong>Curr Opin Genet Dev<\/strong>, 2016<\/p><p><strong>18<\/strong>. <a href=\"https:\/\/doi.org\/10.1038\/ng.3525\">Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma<\/a><br \/>Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, <strong>Popadin K<\/strong>, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI., <strong>Nat Genet<\/strong>, 2016<\/p><p><strong>17<\/strong>. <a href=\"https:\/\/doi.org\/10.1038\/nature16135\">Corrigendum: Domains of genome-wide gene expression dysregulation in Down&#8217;s syndrome<\/a><br \/>Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, <strong>Popadin K<\/strong>, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE., <strong>Nature<\/strong>, 2016<\/p><p><strong>16<\/strong>. <a href=\"https:\/\/doi.org\/10.1101\/gr.197046.115\">APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication<\/a><br \/>Seplyarskiy VB, Soldatov RA, <strong>Popadin KY<\/strong>, Antonarakis SE, Bazykin GA, Nikolaev SI., <strong>Genome Res<\/strong>, 2016<\/p><p><strong>15<\/strong>. <a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0135555\">DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins<\/a><br \/>Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, <strong>Popadin K<\/strong>, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE., <strong>PLoS One<\/strong>, 2015<\/p><p><strong>14<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2014.12.001\">Biased allelic expression in human primary fibroblast single cells<\/a><br \/>Borel C, Ferreira PG, Santoni F, Delaneau O, Fort A, <strong>Popadin KY<\/strong>, Garieri M, Falconnet E, Ribaux P, Guipponi M, Padioleau I, Carninci P, Dermitzakis ET, Antonarakis SE., <strong>Am J Hum Genet<\/strong>, 2015<\/p><p><strong>13<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2014.11.003\">Gene age predicts the strength of purifying selection acting on gene expression variation in humans<\/a><br \/><strong>Popadin KY<\/strong>, Gutierrez-Arcelus M, Lappalainen T, Buil A, Steinberg J, Nikolaev SI, Lukowski SW, Bazykin GA, Seplyarskiy VB, Ioannidis P, Zdobnov EM, Dermitzakis ET, Antonarakis SE., <strong>Am J Hum Genet<\/strong>, 2014<\/p><p><strong>12<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.ajpath.2014.09.001\">Mitochondrial DNA mutations and cancer: lessons from the parathyroid<\/a><br \/><strong>Popadin K<\/strong>, Gunbin KV, Khrapko K., <strong>Am J Pathol<\/strong>, 2014<\/p><p><strong>11<\/strong>. <a href=\"https:\/\/doi.org\/10.1111\/acel.12231\">When man got his mtDNA deletions?<\/a><br \/><strong>Popadin K<\/strong>, Safdar A, Kraytsberg Y, Khrapko K., <strong>Aging Cell<\/strong>, 2014<\/p><p><strong>10<\/strong>. <a href=\"https:\/\/doi.org\/10.1038\/nature13200\">Domains of genome-wide gene expression dysregulation in Down&#8217;s syndrome<\/a><br \/>Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, <strong>Popadin K<\/strong>, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE., <strong>Nature<\/strong>, 2014<\/p><p><strong>9<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2013.10.022\">Genetic and epigenetic regulation of human lincRNA gene expression<\/a><br \/><strong>Popadin K<\/strong>, Gutierrez-Arcelus M, Dermitzakis ET, Antonarakis SE., <strong>Am J Hum Genet<\/strong>, 2013<\/p><p><strong>8<\/strong>. <a href=\"https:\/\/doi.org\/10.1101\/gr.147991.112\">The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome<\/a><br \/>Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, <strong>Popadin K<\/strong>, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juh\u00e9 C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, P\u00e9rez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE., <strong>Genome Res<\/strong>, 2013<\/p><p><strong>7<\/strong>. <a href=\"https:\/\/doi.org\/10.1093\/molbev\/mss219\">Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes<\/a><br \/><strong>Popadin KY<\/strong>, Nikolaev SI, Junier T, Baranova M, Antonarakis SE., <strong>Mol Biol Evol<\/strong>, 2013<\/p><p><strong>6<\/strong>. <a href=\"https:\/\/doi.org\/10.1155\/2013\/139491\">Roles of mitochondrial dynamics under stressful and normal conditions in yeast cells<\/a><br \/>Knorre DA, <strong>Popadin KY<\/strong>, Sokolov SS, Severin FF., <strong>Oxid Med Cell Longev<\/strong>, 2013<\/p><p><strong>5<\/strong>. <a href=\"https:\/\/doi.org\/10.1016\/j.tig.2010.05.006\">Repeats, longevity and the sources of mtDNA deletions: evidence from &#8216;deletional spectra&#8217;<\/a><br \/>Guo X, <strong>Popadin KY<\/strong>, Markuzon N, Orlov YL, Kraytsberg Y, Krishnan KJ, Zsurka G, Turnbull DM, Kunz WS, Khrapko K., <strong>Trends Genet<\/strong>, 2010<\/p><p><strong>4<\/strong>. <a href=\"https:\/\/doi.org\/10.1073\/pnas.0705658104\">Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements<\/a><br \/>Nikolaev SI, Montoya-Burgos JI, <strong>Popadin K<\/strong>, Parand L, Margulies EH; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program; Antonarakis SE., <strong>Proc Natl Acad Sci U S A<\/strong>, 2007<\/p><p><strong>3<\/strong>. <a href=\"https:\/\/doi.org\/10.1186\/1471-2105-8-441\">A manually curated database of tetrapod mitochondrially encoded tRNA sequences and secondary structures<\/a><br \/><strong>Popadin KY<\/strong>, Mamirova LA, Kondrashov FA., <strong>BMC Bioinformatics<\/strong>, 2007<\/p><p><strong>2<\/strong>. <a href=\"https:\/\/doi.org\/10.1073\/pnas.0701256104\">Accumulation of slightly deleterious mutations in mitochondrial protein-coding genes of large versus small mammals<\/a><br \/><strong>Popadin K<\/strong>, Polishchuk LV, Mamirova L, Knorre D, Gunbin K., <strong>Proc Natl Acad Sci U S A<\/strong>, 2007<\/p><p><strong>1<\/strong>. <a href=\"https:\/\/doi.org\/10.1186\/1471-2148-7-17\">Purifying selection in mitochondria, free-living and obligate intracellular proteobacteria<\/a><br \/>Mamirova L, <strong>Popadin K<\/strong>, Gelfand MS., <strong>BMC Evol Biol<\/strong>, 2007<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Publications 37. Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate ClassesIliushchenko D, Efimenko B, Mikhailova AG, Shamanskiy V, Saparbaev MK, Matkarimov BT, Mazunin I, Voronka A, Knorre D, Kunz WS, Kapranov P, Denisov S, Fellay J, Khrapko K, Gunbin K, Popadin K., Mol Biol Evol., 2025 36. NeMu: a comprehensive pipeline for accurate reconstruction of neutral mutation spectra from evolutionary dataEfimenko B, Popadin K, Gunbin K, Nucleic Acids Res, 2024 35. Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positiveFleischmann Z, Cote-L&#8217;Heureux A, Franco M, Oreshkov S, Annis S, Khrapko M, Aidlen D, Popadin K, Woods DC, Tilly JL, Khrapko K., Mitochondrion, 2024 34. Secondary structure of the human mitochondrial genome affects formation of deletionsShamanskiy V, Mikhailova AA, Tretiakov EO, Ushakova K, Mikhailova AG, Oreshkov S, Knorre DA, Ree N, Overdevest JB, Lukowski SW, Gostimskaya I, Yurov V, Liou CW, Lin TK, Kunz WS, Reymond A, Mazunin I, Bazykin GA, Fellay J, Tanaka M, Khrapko K, Gunbin K, Popadin K., BMC Biol, 2023 33. Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 GeneTofilo M, Voronova N, Nigmatullina L, Kuznetsova E, Timonina V, Efimenko B, Turgunkhujaev O, Avdeichik S, Ansar M, Popadin K, Kirillova A, Mazunin I., Genes (Basel), 2023 32. Dynamics of the most common pathogenic mtDNA variant m.3243A\u2009&gt;\u2009G demonstrate frequency-dependency in blood and positive selection in the germlineFranco M, Pickett SJ, Fleischmann Z, Khrapko M, Cote-L&#8217;Heureux A, Aidlen D, Stein D, Markuzon N, Popadin K, Braverman M, Woods DC, Tilly JL, Turnbull DM, Khrapko K., Hum Mol Genet, 2022 31. A mitochondria-specific mutational signature of aging: increased rate of A &gt; G substitutions on the heavy strandMikhailova AG, Mikhailova AA, Ushakova K, Tretiakov EO, Iliushchenko D, Shamansky V, Lobanova V, Kozenkov I, Efimenko B, Yurchenko AA, Kozenkova E, Zdobnov EM, Makeev V, Yurov V, Tanaka M, Gostimskaya I, Fleischmann Z, Annis S, Franco M, Wasko K, Denisov S, Kunz WS, Knorre D, Mazunin I, Nikolaev S, Fellay J, Reymond A, Khrapko K, Gunbin K, Popadin K., Nucleic Acids Res, 2022 30. Mitochondrial Pseudogenes Suggest Repeated Inter-Species Hybridization among Direct Human AncestorsPopadin K, Gunbin K, Peshkin L, Annis S, Fleischmann Z, Franco M, Kraytsberg Y, Markuzon N, Ackermann RR, Khrapko K., Genes (Basel), 2022 29. Increased prevalence of clonal hematopoiesis of indeterminate potential amongst people living with HIVBick AG, Popadin K, Thorball CW, Uddin MM, Zanni MV, Yu B, Cavassini M, Rauch A, Tarr P, Schmid P, Bernasconi E, G\u00fcnthard HF, Libby P, Boerwinkle E, McLaren PJ, Ballantyne CM, Grinspoon S, Natarajan P, Fellay J; Swiss HIV Cohort Study., Sci Rep, 2022 28. Molecular design of hypothalamus developmentRomanov RA, Tretiakov EO, Kastriti ME, Zupancic M, H\u00e4ring M, Korchynska S, Popadin K, Benevento M, Rebernik P, Lallemend F, Nishimori K, Clotman F, Andrews WD, Parnavelas JG, Farlik M, Bock C, Adameyko I, H\u00f6kfelt T, Keimpema E, Harkany T., Nature, 2020 27. From Normal to Obesity and Back: The Associations between Mitochondrial DNA Copy Number, Gender, and Body Mass IndexSkuratovskaia D, Litvinova L, Vulf M, Zatolokin P, Popadin K, Mazunin I., Cells, 2019 26. ImtRDB: a database and software for mitochondrial imperfect interspersed repeats annotationShamanskiy VA, Timonina VN, Popadin KY, Gunbin KV., BMC Genomics, 2019 25. mtProtEvol: the resource presenting molecular evolution analysis of proteins involved in the function of Vertebrate mitochondriaKuzminkova AA, Sokol AD, Ushakova KE, Popadin KY, Gunbin KV., BMC Evol Biol, 2019 24. Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selectionPopadin K, Peischl S, Garieri M, Sailani MR, Letourneau A, Santoni F, Lukowski SW, Bazykin GA, Nikolaev S, Meyer D, Excoffier L, Reymond A, Antonarakis SE., Genome Res, 2018 23. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVsLoviglio MN, Arbogast T, J\u00f8nch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium; Yalcin B, Katsanis N, Golzio C, Reymond A., Am J Hum Genet, 2017 22. The genomic landscape of human cellular circadian variation points to a novel role for the signalosomeGaspar L, Howald C, Popadin K, Maier B, Mauvoisin D, Moriggi E, Gutierrez-Arcelus M, Falconnet E, Borel C, Kunz D, Kramer A, Gachon F, Dermitzakis ET, Antonarakis SE, Brown SA., Elife, 2017 21. Data on the time of integration of the human mitochondrial pseudogenes (NUMTs) into the nuclear genomeGunbin K, Peshkin L, Popadin K, Annis S, Ackermann RR, Khrapko K., Data Brief, 2017 20. Integration of mtDNA pseudogenes into the nuclear genome coincides with speciation of the human genus. A hypothesisGunbin K, Peshkin L, Popadin K, Annis S, Ackermann RR, Khrapko K., Mitochondrion, 2017 19. Amelioration of premature aging in mtDNA mutator mouse by exercise: the interplay of oxidative stress, PGC-1\u03b1, p53, and DNA damage. A hypothesisSafdar A, Annis S, Kraytsberg Y, Laverack C, Saleem A, Popadin K, Woods DC, Tilly JL, Khrapko K., Curr Opin Genet Dev, 2016 18. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinomaBonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI., Nat Genet, 2016 17. Corrigendum: Domains of genome-wide gene expression dysregulation in Down&#8217;s syndromeLetourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE., Nature, 2016 16. APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replicationSeplyarskiy VB, Soldatov RA, Popadin KY, Antonarakis SE, Bazykin GA, Nikolaev SI., Genome Res, 2016 15. 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