{"id":"https://openalex.org/W1967359653","doi":"https://doi.org/10.1134/s0006297911010068","title":"Fanconi anemia: at the Crossroads of DNA repair","display_name":"Fanconi anemia: at the Crossroads of DNA repair","publication_year":2011,"publication_date":"2011-01-01","ids":{"openalex":"https://openalex.org/W1967359653","doi":"https://doi.org/10.1134/s0006297911010068","mag":"1967359653","pmid":"https://pubmed.ncbi.nlm.nih.gov/21568838"},"language":"en","primary_location":{"id":"doi:10.1134/s0006297911010068","doi":"https://doi.org/10.1134/s0006297911010068","is_oa":false,"landing_page_url":"https://doi.org/10.1134/s0006297911010068","pdf_url":null,"source":{"id":"https://openalex.org/S71215691","display_name":"Biochemistry (Moscow)","issn_l":"0006-2979","issn":["0006-2979","0320-9725","1608-3040"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","russia-white-list-2"],"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":"Biochemistry (Moscow)","raw_type":"journal-article"},"volume":null,"type":"review","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/A5049480743","display_name":"Julianna S. Deakyne","orcid":"https://orcid.org/0000-0001-5228-5472","observed_orcids":["https://orcid.org/0000-0001-5228-5472"]},"institutions":[{"id":"https://openalex.org/I72816309","display_name":"Drexel University","ror":"https://ror.org/04bdffz58","country_code":"US","type":"education","lineage":["https://openalex.org/I72816309"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. S. Deakyne","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, Philadelphia, Pennsylvania 19102, USA","Department of Biochemistry and Molecular Biology, Drexel University, College of Medicine, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, Philadelphia, Pennsylvania 19102, USA","institution_ids":["https://openalex.org/I72816309"]},{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Drexel University, College of Medicine, Philadelphia, USA","institution_ids":["https://openalex.org/I72816309"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071817184","display_name":"Alexander V. Mazin","orcid":"https://orcid.org/0000-0002-5430-9797","observed_orcids":["https://orcid.org/0000-0002-5430-9797"]},"institutions":[{"id":"https://openalex.org/I4210116466","display_name":"Institute of Cytology and Genetics","ror":"https://ror.org/0277xgb12","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I188973947","https://openalex.org/I4210116466","https://openalex.org/I4210127387","https://openalex.org/I4210129690"]},{"id":"https://openalex.org/I4210127387","display_name":"Siberian Branch of the Russian Academy of Sciences","ror":"https://ror.org/02frkq021","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210127387"]},{"id":"https://openalex.org/I72816309","display_name":"Drexel University","ror":"https://ror.org/04bdffz58","country_code":"US","type":"education","lineage":["https://openalex.org/I72816309"]}],"countries":["RU","US"],"is_corresponding":true,"raw_author_name":"A. V. Mazin","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, 245 N 15th Street, MS 497, NCB, Room 10103, Philadelphia, Pennsylvania, 19102, USA","Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090, Novosibirsk, Russia","Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, Philadelphia, USA","Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, 245 N 15th Street, MS 497, NCB, Room 10103, Philadelphia, Pennsylvania, 19102, USA","institution_ids":["https://openalex.org/I72816309"]},{"raw_affiliation_string":"Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090, Novosibirsk, Russia","institution_ids":["https://openalex.org/I4210116466","https://openalex.org/I4210127387"]},{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, Philadelphia, USA","institution_ids":["https://openalex.org/I72816309"]},{"raw_affiliation_string":"Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia","institution_ids":["https://openalex.org/I4210116466","https://openalex.org/I4210127387"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5071817184"],"corresponding_institution_ids":["https://openalex.org/I4210116466","https://openalex.org/I4210127387","https://openalex.org/I72816309"],"apc_list":null,"apc_paid":null,"fwci":0.4932,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.39987415,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"76","issue":"1","first_page":"36","last_page":"48"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.9990000128746033,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.9990000128746033,"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/T12919","display_name":"Blood disorders and treatments","score":0.00019999999494757503,"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/T11914","display_name":"PARP inhibition in cancer therapy","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/fanconi-anemia","display_name":"Fanconi anemia","score":0.9950000047683716},{"id":"https://openalex.org/keywords/dna-repair","display_name":"DNA repair","score":0.9700000286102295},{"id":"https://openalex.org/keywords/genomic-instability","display_name":"genomic instability","score":0.9210000038146973},{"id":"https://openalex.org/keywords/interstrand-crosslink-repair","display_name":"interstrand crosslink repair","score":0.8190000057220459},{"id":"https://openalex.org/keywords/homologous-recombination","display_name":"homologous recombination","score":0.9649999737739563},{"id":"https://openalex.org/keywords/bone-marrow-failure","display_name":"bone marrow failure","score":0.800000011920929},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.9190000295639038},{"id":"https://openalex.org/keywords/dna-damage-signaling","display_name":"DNA damage signaling","score":0.640999972820282},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.6259999871253967}],"concepts":[{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.8924146890640259},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.7287918329238892},{"id":"https://openalex.org/C178169997","wikidata":"https://www.wikidata.org/wiki/Q2892636","display_name":"Genome instability","level":4,"score":0.723311722278595},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5613847970962524},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.54776531457901},{"id":"https://openalex.org/C102744134","wikidata":"https://www.wikidata.org/wiki/Q22280388","display_name":"Homologous recombination","level":3,"score":0.5049193501472473},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4981222152709961},{"id":"https://openalex.org/C2780525284","wikidata":"https://www.wikidata.org/wiki/Q7882181","display_name":"Bone marrow failure","level":4,"score":0.49165040254592896},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.48994773626327515},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.43870794773101807},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4099730849266052},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3442877531051636},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.12622347474098206},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.07165473699569702}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1134/s0006297911010068","doi":"https://doi.org/10.1134/s0006297911010068","is_oa":false,"landing_page_url":"https://doi.org/10.1134/s0006297911010068","pdf_url":null,"source":{"id":"https://openalex.org/S71215691","display_name":"Biochemistry (Moscow)","issn_l":"0006-2979","issn":["0006-2979","0320-9725","1608-3040"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","russia-white-list-2"],"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":"Biochemistry (Moscow)","raw_type":"journal-article"},{"id":"pmid:21568838","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21568838","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":"Biochemistry. Biokhimiia","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/2","display_name":"Zero hunger","score":0.6399999856948853}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2070071265","display_name":null,"funder_award_id":"R01 CA100839","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G2209325614","display_name":null,"funder_award_id":"CA100839","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":82,"referenced_works":["https://openalex.org/W1965192752","https://openalex.org/W1969513645","https://openalex.org/W1973507887","https://openalex.org/W1974062259","https://openalex.org/W1979145225","https://openalex.org/W1986550902","https://openalex.org/W1990039985","https://openalex.org/W1991591616","https://openalex.org/W1991841649","https://openalex.org/W2000988465","https://openalex.org/W2004769477","https://openalex.org/W2005700199","https://openalex.org/W2006575165","https://openalex.org/W2009074048","https://openalex.org/W2010216792","https://openalex.org/W2010444982","https://openalex.org/W2011272179","https://openalex.org/W2011789977","https://openalex.org/W2020120289","https://openalex.org/W2020481544","https://openalex.org/W2028269897","https://openalex.org/W2028767678","https://openalex.org/W2030063330","https://openalex.org/W2031202740","https://openalex.org/W2034702779","https://openalex.org/W2034747770","https://openalex.org/W2038012621","https://openalex.org/W2038860354","https://openalex.org/W2039641528","https://openalex.org/W2040350157","https://openalex.org/W2041389422","https://openalex.org/W2041761000","https://openalex.org/W2044324131","https://openalex.org/W2046066638","https://openalex.org/W2055667487","https://openalex.org/W2056445557","https://openalex.org/W2056473812","https://openalex.org/W2057831681","https://openalex.org/W2058904287","https://openalex.org/W2059505939","https://openalex.org/W2062226976","https://openalex.org/W2068650008","https://openalex.org/W2071322868","https://openalex.org/W2071782656","https://openalex.org/W2083273205","https://openalex.org/W2084310601","https://openalex.org/W2084316239","https://openalex.org/W2084751512","https://openalex.org/W2084855168","https://openalex.org/W2086449675","https://openalex.org/W2086482792","https://openalex.org/W2087452637","https://openalex.org/W2087967916","https://openalex.org/W2088374322","https://openalex.org/W2090377588","https://openalex.org/W2092113847","https://openalex.org/W2093398724","https://openalex.org/W2100343950","https://openalex.org/W2101161126","https://openalex.org/W2101372024","https://openalex.org/W2103770333","https://openalex.org/W2105144878","https://openalex.org/W2107090468","https://openalex.org/W2109173575","https://openalex.org/W2114907977","https://openalex.org/W2122003098","https://openalex.org/W2132587601","https://openalex.org/W2132768874","https://openalex.org/W2133664283","https://openalex.org/W2135212986","https://openalex.org/W2138126759","https://openalex.org/W2139554694","https://openalex.org/W2140336382","https://openalex.org/W2142871091","https://openalex.org/W2143005627","https://openalex.org/W2149326807","https://openalex.org/W2159588166","https://openalex.org/W2159928328","https://openalex.org/W2159979213","https://openalex.org/W2166483233","https://openalex.org/W2167844213","https://openalex.org/W2170686442"],"related_works":["https://openalex.org/W2070011290","https://openalex.org/W1978995253","https://openalex.org/W2318411720","https://openalex.org/W1984783667","https://openalex.org/W2021040642","https://openalex.org/W2091888464","https://openalex.org/W2167844213","https://openalex.org/W2014623218","https://openalex.org/W7099670131","https://openalex.org/W2089258879"],"abstract_inverted_index":{"Fanconi":[0],"anemia":[1],"(FA)":[2],"is":[3,27,114,128],"an":[4],"autosomal":[5],"disorder":[6],"that":[7,83],"causes":[8],"genome":[9],"instability.":[10],"FA":[11,47,94,118],"patients":[12],"suffer":[13],"developmental":[14],"abnormalities,":[15],"early-onset":[16],"bone":[17],"marrow":[18],"failure,":[19],"and":[20,39,100,120,142],"a":[21,40],"predisposition":[22],"to":[23,35,71,87,103,107,129,136],"cancer.":[24],"The":[25,46,58,126],"disease":[26],"manifested":[28],"by":[29],"defects":[30],"in":[31,54,80],"DNA":[32,36,66],"repair,":[33],"hypersensitivity":[34],"crosslinking":[37],"agents,":[38],"high":[41],"degree":[42],"of":[43,61,63,75,92,146],"chromosomal":[44],"aberrations.":[45],"pathway":[48,82],"comprises":[49],"13":[50],"disease-causing":[51],"genes":[52,78],"involved":[53,79],"maintaining":[55],"genomic":[56],"stability.":[57],"fast":[59],"pace":[60],"study":[62],"the":[64,72,81,93,117,132],"novel":[65],"damage":[67],"network":[68],"has":[69],"led":[70],"constant":[73],"discovery":[74],"new":[76],"FA-like":[77,124],"when":[84],"mutated":[85],"lead":[86],"similar":[88],"disorders.":[89],"A":[90],"majority":[91],"proteins":[95,102,119,133],"act":[96],"as":[97],"signal":[98],"transducers":[99],"scaffolding":[101],"employ":[104],"other":[105,121],"pathways":[106],"repair":[108,141,145],"DNA.":[109,148],"This":[110],"review":[111],"discusses":[112],"what":[113],"known":[115],"about":[116],"recently":[122],"linked":[123],"proteins.":[125],"goal":[127],"clarify":[130],"how":[131],"work":[134],"together":[135],"carry":[137],"out":[138],"interstrand":[139],"crosslink":[140],"homologous":[143],"recombination-mediated":[144],"damaged":[147]},"counts_by_year":[{"year":2024,"cited_by_count":4},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":8}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2016-06-24T00:00:00"}
