{"id":"https://openalex.org/W2340936201","doi":"https://doi.org/10.1134/s1022795416030091","title":"Haplotype analysis of oculopharyngeal muscular dystrophy (OPMD) locus in Yakutia","display_name":"Haplotype analysis of oculopharyngeal muscular dystrophy (OPMD) locus in Yakutia","publication_year":2016,"publication_date":"2016-03-01","ids":{"openalex":"https://openalex.org/W2340936201","doi":"https://doi.org/10.1134/s1022795416030091","mag":"2340936201","pmid":"https://pubmed.ncbi.nlm.nih.gov/27281858"},"language":"ru","primary_location":{"id":"doi:10.1134/s1022795416030091","doi":"https://doi.org/10.1134/s1022795416030091","is_oa":false,"landing_page_url":"https://doi.org/10.1134/s1022795416030091","pdf_url":null,"source":{"id":"https://openalex.org/S96120751","display_name":"Russian Journal of Genetics","issn_l":"1022-7954","issn":["1022-7954","1608-3369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320267","host_organization_name":"Pleiades Publishing","host_organization_lineage":["https://openalex.org/P4310320267","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Pleiades Publishing","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Russian Journal of Genetics","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/A5087473727","display_name":"Andrey V. Marusin","orcid":"https://orcid.org/0000-0002-4642-7515","observed_orcids":["https://orcid.org/0000-0002-4642-7515"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I196355604","display_name":"National Research Tomsk State University","ror":"https://ror.org/02he2nc27","country_code":"RU","type":"education","lineage":["https://openalex.org/I196355604"]},{"id":"https://openalex.org/I4210113951","display_name":"Research Institute of Medical Genetics of Russian Academy of Medical Sciences","ror":"https://ror.org/029k7k053","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210113951"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"A. V. Marusin","raw_affiliation_strings":["National Research Tomsk State University, Tomsk, 634050, Russia","Research Institute for Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Research Tomsk State University, Tomsk, 634050, Russia","institution_ids":["https://openalex.org/I196355604"]},{"raw_affiliation_string":"Research Institute for Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210113951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047695489","display_name":"\u0425.\u0410. \u041a\u0443\u0440\u0442\u0430\u043d\u043e\u0432","orcid":"https://orcid.org/0000-0002-2841-0357","observed_orcids":["https://orcid.org/0000-0002-2841-0357"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"H. A. Kurtanov","raw_affiliation_strings":["Yakut Scientific Center of Complex Medical Problems, Russian Academy of Sciences, Yakutsk, 677013, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yakut Scientific Center of Complex Medical Problems, Russian Academy of Sciences, Yakutsk, 677013, Russia","institution_ids":["https://openalex.org/I1313323035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037639683","display_name":"\u041d. \u0420. \u041c\u0430\u043a\u0441\u0438\u043c\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-8258-7452","observed_orcids":["https://orcid.org/0000-0002-8258-7452","https://orcid.org/0000-0002-3843-1469"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"N. R. Maksimova","raw_affiliation_strings":["Ammosov North-Eastern Federal University, Yakutsk, 677000, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov North-Eastern Federal University, Yakutsk, 677000, Russia","institution_ids":["https://openalex.org/I131550537"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073985105","display_name":"M. G. Swarovskaya","orcid":"https://orcid.org/0000-0002-5020-4971","observed_orcids":["https://orcid.org/0000-0002-5020-4971"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I4210113951","display_name":"Research Institute of Medical Genetics of Russian Academy of Medical Sciences","ror":"https://ror.org/029k7k053","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210113951"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"M. G. Swarovsakaja","raw_affiliation_strings":["Research Institute for Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute for Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210113951"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075935535","display_name":"\u0412. \u0410. \u0421\u0442\u0435\u043f\u0430\u043d\u043e\u0432","orcid":"https://orcid.org/0000-0002-5166-331X","observed_orcids":["https://orcid.org/0000-0002-5166-331X"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I196355604","display_name":"National Research Tomsk State University","ror":"https://ror.org/02he2nc27","country_code":"RU","type":"education","lineage":["https://openalex.org/I196355604"]},{"id":"https://openalex.org/I4210113951","display_name":"Research Institute of Medical Genetics of Russian Academy of Medical Sciences","ror":"https://ror.org/029k7k053","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210113951"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"V. A. Stepanov","raw_affiliation_strings":["National Research Tomsk State University, Tomsk, 634050, Russia","Research Institute for Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Research Tomsk State University, Tomsk, 634050, Russia","institution_ids":["https://openalex.org/I196355604"]},{"raw_affiliation_string":"Research Institute for Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210113951"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5087473727"],"corresponding_institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I196355604","https://openalex.org/I4210113951"],"apc_list":null,"apc_paid":null,"fwci":0.1698,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.51447153,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"52","issue":"3","first_page":"331","last_page":"338"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5371000170707703,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.5371000170707703,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.21250000596046448,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.1582999974489212,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/oculopharyngeal-muscular-dystrophy","display_name":"oculopharyngeal muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.8769999742507935},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9629999995231628},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9610000252723694},{"id":"https://openalex.org/keywords/mutation-carriers","display_name":"mutation carriers","score":0.7459999918937683},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8059999942779541},{"id":"https://openalex.org/keywords/yakuts","display_name":"Yakuts","score":0.7549999952316284},{"id":"https://openalex.org/keywords/evenks","display_name":"Evenks","score":0.8209999799728394},{"id":"https://openalex.org/keywords/evens","display_name":"Evens","score":0.7570000290870667},{"id":"https://openalex.org/keywords/yukaghir","display_name":"Yukaghir","score":0.9390000104904175}],"concepts":[{"id":"https://openalex.org/C2777719403","wikidata":"https://www.wikidata.org/wiki/Q3042171","display_name":"Oculopharyngeal muscular dystrophy","level":3,"score":0.8863685131072998},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.8101210594177246},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7578916549682617},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6804024577140808},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5957197546958923},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5870551466941833},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5497543811798096},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.498720645904541},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.45520690083503723},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.4452061057090759},{"id":"https://openalex.org/C137916694","wikidata":"https://www.wikidata.org/wiki/Q1549382","display_name":"Asymptomatic carrier","level":3,"score":0.42056334018707275},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3756530284881592},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22281652688980103},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.21078059077262878},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.20079723000526428},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.137114018201828},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004930","descriptor_name":"Inuit","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012800","descriptor_name":"Siberia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D039122","descriptor_name":"Poly(A)-Binding Protein I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1134/s1022795416030091","doi":"https://doi.org/10.1134/s1022795416030091","is_oa":false,"landing_page_url":"https://doi.org/10.1134/s1022795416030091","pdf_url":null,"source":{"id":"https://openalex.org/S96120751","display_name":"Russian Journal of Genetics","issn_l":"1022-7954","issn":["1022-7954","1608-3369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320267","host_organization_name":"Pleiades Publishing","host_organization_lineage":["https://openalex.org/P4310320267","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Pleiades Publishing","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Russian Journal of Genetics","raw_type":"journal-article"},{"id":"pmid:27281858","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27281858","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":"Genetika","raw_type":"English Abstract"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321079","display_name":"Russian Foundation for Basic Research","ror":"https://ror.org/02mh1ke95"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W907447744","https://openalex.org/W1538295849","https://openalex.org/W1983363949","https://openalex.org/W1989346081","https://openalex.org/W2009460593","https://openalex.org/W2018019002","https://openalex.org/W2022458306","https://openalex.org/W2022514980","https://openalex.org/W2031616647","https://openalex.org/W2035467082","https://openalex.org/W2044851554","https://openalex.org/W2048437687","https://openalex.org/W2048825473","https://openalex.org/W2057799658","https://openalex.org/W2065084696","https://openalex.org/W2067543379","https://openalex.org/W2094668552","https://openalex.org/W2096420865","https://openalex.org/W2113559242","https://openalex.org/W2126046105","https://openalex.org/W2142721111","https://openalex.org/W2145961280","https://openalex.org/W2159487337","https://openalex.org/W2160757542","https://openalex.org/W2163885574","https://openalex.org/W2401101824","https://openalex.org/W4239149238"],"related_works":["https://openalex.org/W2401101824","https://openalex.org/W2160757542","https://openalex.org/W2163885574","https://openalex.org/W2142721111","https://openalex.org/W2564533156","https://openalex.org/W1983363949","https://openalex.org/W2016815426","https://openalex.org/W2204371606","https://openalex.org/W2118697089","https://openalex.org/W7004668695"],"abstract_inverted_index":{"Oculopharyngeal":[0],"muscular":[1],"dystrophy":[2],"(OPMD)":[3],"is":[4,72,92],"a":[5,25,119,169],"hereditary":[6],"neuromuscular":[7],"disease":[8],"with":[9,14,24,145],"autosomal":[10,15],"dominant":[11],"and":[12,40,109,134,154,157],"rarely":[13],"recessive":[16],"inheritance":[17],"types.":[18],"This":[19],"study":[20],"included":[21],"50":[22],"patients":[23,156],"clinical":[26],"diagnosis":[27],"of":[28,33,49,53,65,97,114,130,140,166,171],"OPMD,":[29],"23":[30],"asymptomatic":[31],"carriers":[32],"the":[34,63,73,82,101,124,128,146,164,172],"mutation":[35,132,159],"from":[36],"45":[37],"unrelated":[38],"families,":[39],"56":[41],"healthy":[42],"relatives,":[43],"as":[44,46,168],"well":[45],"population":[47,110,135],"samples":[48],"four":[50,141],"ethnic":[51],"groups":[52,129],"Yakutia:":[54],"Yakuts,":[55],"Evens,":[56],"Evenks,":[57],"Yukaghirs.":[58],"It":[59],"was":[60,104,150],"found":[61,151],"that":[62],"cause":[64],"OPMD":[66,102,115,158],"development":[67],"in":[68,81,106,127,152],"all":[69],"investigated":[70],"families":[71,108],"same":[74],"increase":[75],"in.GCN":[76],"repeats":[77],"to":[78],"14":[79],"copies":[80],"PABPN1":[83],"gene.":[84],"The":[85,94,112],"molecular":[86],"structure":[87],"ofthe":[88],"(GCN)\u2081\u2084":[89,147],"mutant":[90,148],"allele":[91,149],"(GCG)\u2081\u2080(GCA)\u2083GCG.":[93],"genetic":[95],"variability":[96],"ten":[98],"SNPs":[99,142],"at":[100],"locus":[103],"studied":[105],"patient":[107],"samples.":[111,136],"haplotypes":[113],"were":[116],"determined":[117],"by":[118],"segregation":[120],"analysis":[121],"technique":[122],"using":[123],"EM":[125],"algorithm":[126],"patients,":[131],"carriers,":[133],"Only":[137],"one":[138],"haplotype":[139],"(ATCG)":[143],"linked":[144],"Yakuts":[153],"Russian":[155],"carriers.":[160],"Probably,":[161],"this":[162],"indicates":[163],"accumulation":[165],"mutations":[167],"result":[170],"founder":[173],"effect.":[174]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
