{"id":"https://openalex.org/W56904768","doi":null,"title":"Fanconi anemia mutation causes cellular susceptibility to ambient oxygen.","display_name":"Fanconi anemia mutation causes cellular susceptibility to ambient oxygen.","publication_year":1988,"publication_date":"1988-10-01","ids":{"openalex":"https://openalex.org/W56904768","mag":"56904768","pmid":"https://pubmed.ncbi.nlm.nih.gov/3177386","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1715501"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:410066","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1715501","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/pmc/articles/PMC1715501","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003985566","display_name":"Detlev Schindler","orcid":"https://orcid.org/0000-0003-2451-8165","observed_orcids":["https://orcid.org/0000-0003-2451-8165"]},"institutions":[{"id":"https://openalex.org/I25974101","display_name":"University of W\u00fcrzburg","ror":"https://ror.org/00fbnyb24","country_code":"DE","type":"education","lineage":["https://openalex.org/I25974101"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"D Schindler","raw_affiliation_strings":["Department of Human Genetics, University of W\u00fcrzburg, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of W\u00fcrzburg, Federal Republic of Germany","institution_ids":["https://openalex.org/I25974101"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060439423","display_name":"Holger Hoehn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H Hoehn","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.5574,"has_fulltext":false,"cited_by_count":123,"citation_normalized_percentile":{"value":0.59511789,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"43","issue":"4","first_page":"429","last_page":"35"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.7401999831199646,"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":0.7401999831199646,"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":0.04740000143647194,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11359","display_name":"Effects of Radiation Exposure","score":0.043699998408555984,"subfield":{"id":"https://openalex.org/subfields/2741","display_name":"Radiology, Nuclear Medicine and Imaging"},"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":0.9990000128746033},{"id":"https://openalex.org/keywords/hypoxia","display_name":"hypoxia","score":0.75},{"id":"https://openalex.org/keywords/oxygen-partial-pressure","display_name":"oxygen partial pressure","score":0.4959999918937683},{"id":"https://openalex.org/keywords/cell-cycle-arrest","display_name":"cell cycle arrest","score":0.7599999904632568},{"id":"https://openalex.org/keywords/s-phase","display_name":"S phase","score":0.734000027179718},{"id":"https://openalex.org/keywords/g2-m-phase","display_name":"G2/M phase","score":0.9929999709129333},{"id":"https://openalex.org/keywords/cell-growth","display_name":"cell growth","score":0.38199999928474426},{"id":"https://openalex.org/keywords/cell-lifespan","display_name":"cell lifespan","score":0.4790000021457672},{"id":"https://openalex.org/keywords/oxidative-dna-damage","display_name":"oxidative DNA damage","score":0.5270000100135803}],"concepts":[{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.7195972800254822},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.6802738308906555},{"id":"https://openalex.org/C2993207723","wikidata":"https://www.wikidata.org/wiki/Q4927803","display_name":"Oxygen tension","level":3,"score":0.6018408536911011},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5963622331619263},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5762951374053955},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.5153595805168152},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5057706832885742},{"id":"https://openalex.org/C540031477","wikidata":"https://www.wikidata.org/wiki/Q629","display_name":"Oxygen","level":2,"score":0.4866505563259125},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4821738600730896},{"id":"https://openalex.org/C157890192","wikidata":"https://www.wikidata.org/wiki/Q2561978","display_name":"Explant culture","level":3,"score":0.472127765417099},{"id":"https://openalex.org/C48349386","wikidata":"https://www.wikidata.org/wiki/Q424361","display_name":"Reactive oxygen species","level":2,"score":0.45149773359298706},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.4414571225643158},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.398380845785141},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3639000654220581},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.34775424003601074},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.288185715675354},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.27786511182785034},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.25880226492881775},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1413182020187378},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000741","descriptor_name":"Anemia, Aplastic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D007399","descriptor_name":"Interphase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008938","descriptor_name":"Mitosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010100","descriptor_name":"Oxygen","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmh:oai:europepmc.org:410066","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1715501","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:3177386","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3177386","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"mag:56904768","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3177386","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:410066","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1715501","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9074000120162964,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W187160811","https://openalex.org/W1509068857","https://openalex.org/W1971858212","https://openalex.org/W1980139346","https://openalex.org/W1984373476","https://openalex.org/W1985532731","https://openalex.org/W2003618279","https://openalex.org/W2009948917","https://openalex.org/W2012671400","https://openalex.org/W2017824591","https://openalex.org/W2018235365","https://openalex.org/W2020733732","https://openalex.org/W2032712154","https://openalex.org/W2033730244","https://openalex.org/W2039921547","https://openalex.org/W2043942270","https://openalex.org/W2065767586","https://openalex.org/W2070211902","https://openalex.org/W2070401184","https://openalex.org/W2083226149","https://openalex.org/W2089918581","https://openalex.org/W2092820789","https://openalex.org/W2093488304","https://openalex.org/W2107843987","https://openalex.org/W2145806584","https://openalex.org/W2183203185","https://openalex.org/W2420827384"],"related_works":["https://openalex.org/W1967698923","https://openalex.org/W2147460448","https://openalex.org/W1989070796","https://openalex.org/W157309141","https://openalex.org/W2979805838","https://openalex.org/W2040447995","https://openalex.org/W2144964388","https://openalex.org/W2112978260","https://openalex.org/W3038043602","https://openalex.org/W2038474639"],"abstract_inverted_index":{"The":[0],"gene":[1],"defect":[2],"causing":[3],"the":[4,14,72,78,95,117],"Fanconi":[5],"anemia":[6],"(FA)":[7],"phenotype":[8],"appears":[9],"to":[10,44,56,60,111],"be":[11],"expressed":[12],"at":[13],"cellular":[15,119],"level,":[16],"since":[17],"FA":[18,42,69,118],"fibroblasts":[19,43],"show":[20,38],"a":[21,27],"protracted":[22],"course":[23],"of":[24,41,68,77,86,97,116],"explant":[25],"outgrowth,":[26],"diminished":[28],"in":[29,54,71,83,89],"vitro":[30,55],"life":[31],"span,":[32],"and":[33,74,91],"very":[34],"poor":[35],"cloning.":[36],"We":[37],"that":[39,81],"exposure":[40],"hypoxic":[45],"(5%":[46],"v/v":[47],"oxygen)":[48],"culture":[49],"conditions":[50],"restores":[51],"their":[52],"growth":[53],"near":[57],"normal.":[58],"Exposure":[59],"elevated":[61],"oxygen":[62,113],"tension":[63],"(35%":[64],"v/v)":[65],"causes":[66],"accumulations":[67],"cells":[70],"S":[73],"G2/M":[75],"phases":[76],"cell":[79],"cycle":[80],"are":[82],"significant":[84],"excess":[85],"those":[87],"seen":[88],"heterozygote":[90],"control":[92],"strains.":[93],"In":[94],"absence":[96],"evidence":[98],"for":[99],"defective":[100],"cytoplasmatic":[101],"radical":[102],"scavenging":[103],"systems,":[104],"these":[105],"observations":[106],"suggest":[107],"increased":[108],"nuclear":[109],"susceptibility":[110],"ambient":[112],"as":[114],"cause":[115],"phenotype.":[120]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
