{"id":"https://openalex.org/W346292765","doi":null,"title":"Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts.","display_name":"Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts.","publication_year":1993,"publication_date":"1993-12-01","ids":{"openalex":"https://openalex.org/W346292765","mag":"346292765","pmid":"https://pubmed.ncbi.nlm.nih.gov/7504406","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1682482"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:386210","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1682482","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/PMC1682482","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016379164","display_name":"M. Stephen Meyn","orcid":"https://orcid.org/0000-0001-6444-2607","observed_orcids":["https://orcid.org/0000-0001-6444-2607"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M S Meyn","raw_affiliation_strings":["Department of Genetics, School of Medicine, Yale University, New Haven, CT 06510"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, School of Medicine, Yale University, New Haven, CT 06510","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020147334","display_name":"Jennifer M. Lu-Kuo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J M Lu-Kuo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5088823535","display_name":"Laura B. K. Herzing","orcid":"https://orcid.org/0000-0002-5206-7616","observed_orcids":["https://orcid.org/0000-0002-5206-7616"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L B Herzing","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":2.396,"has_fulltext":false,"cited_by_count":67,"citation_normalized_percentile":{"value":0.89862374,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"53","issue":"6","first_page":"1206","last_page":"16"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.9945999979972839,"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":0.9945999979972839,"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/T11359","display_name":"Effects of Radiation Exposure","score":0.0013000000035390258,"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"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.00019999999494757503,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/ataxia-telangiectasia","display_name":"ataxia telangiectasia","score":0.9610000252723694},{"id":"https://openalex.org/keywords/mutagen-sensitivity","display_name":"mutagen sensitivity","score":0.6549999713897705},{"id":"https://openalex.org/keywords/radioresistance-biology","display_name":"radioresistance (biology)","score":0.5649999976158142},{"id":"https://openalex.org/keywords/11q23","display_name":"11q23","score":0.8930000066757202},{"id":"https://openalex.org/keywords/dna-damage-response","display_name":"DNA damage response","score":0.7039999961853027},{"id":"https://openalex.org/keywords/hyper-recombination","display_name":"hyper-recombination","score":0.6340000033378601},{"id":"https://openalex.org/keywords/candidate-disease-genes","display_name":"candidate disease genes","score":0.5669999718666077}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8248670697212219},{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.7553048729896545},{"id":"https://openalex.org/C188082640","wikidata":"https://www.wikidata.org/wiki/Q1780899","display_name":"Complementation","level":4,"score":0.7409583330154419},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.7034695148468018},{"id":"https://openalex.org/C189482833","wikidata":"https://www.wikidata.org/wiki/Q869146","display_name":"cDNA library","level":4,"score":0.5841870903968811},{"id":"https://openalex.org/C2779486608","wikidata":"https://www.wikidata.org/wiki/Q387082","display_name":"Ataxia-telangiectasia","level":4,"score":0.5291612148284912},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4574545919895172},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4542664587497711},{"id":"https://openalex.org/C2776639595","wikidata":"https://www.wikidata.org/wiki/Q221696","display_name":"Mutagen","level":3,"score":0.42963477969169617},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.31058716773986816},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.2531678080558777},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.2155168056488037}],"mesh":[{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002461","descriptor_name":"Cell Line, Transformed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002470","descriptor_name":"Cell Survival","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D002470","descriptor_name":"Cell Survival","qualifier_ui":"Q000528","qualifier_name":"radiation effects","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","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":"Q000528","qualifier_name":"radiation effects","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","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":"D007926","descriptor_name":"Lesch-Nyhan Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D013308","descriptor_name":"Streptonigrin","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D014162","descriptor_name":"Transfection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014170","descriptor_name":"Transformation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015152","descriptor_name":"Blotting, Northern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015723","descriptor_name":"Gene Library","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:europepmc.org:386210","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1682482","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:7504406","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7504406","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:346292765","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7504406","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:386210","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1682482","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":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W133009242","https://openalex.org/W136686705","https://openalex.org/W1777300018","https://openalex.org/W1818914725","https://openalex.org/W1821860584","https://openalex.org/W1846876036","https://openalex.org/W1966678748","https://openalex.org/W1979521511","https://openalex.org/W1986179131","https://openalex.org/W1990781647","https://openalex.org/W2008354532","https://openalex.org/W2021143386","https://openalex.org/W2025237513","https://openalex.org/W2030141157","https://openalex.org/W2031498732","https://openalex.org/W2037355114","https://openalex.org/W2037824526","https://openalex.org/W2040728168","https://openalex.org/W2042841053","https://openalex.org/W2043522420","https://openalex.org/W2061915440","https://openalex.org/W2065417936","https://openalex.org/W2069557908","https://openalex.org/W2070141918","https://openalex.org/W2105578504","https://openalex.org/W2111089659","https://openalex.org/W2132380666","https://openalex.org/W2140204001","https://openalex.org/W2144917567","https://openalex.org/W2145939467","https://openalex.org/W2298496625","https://openalex.org/W2327876243"],"related_works":["https://openalex.org/W2067191626","https://openalex.org/W176433415","https://openalex.org/W103111802","https://openalex.org/W6999301936","https://openalex.org/W181621771","https://openalex.org/W6950326054","https://openalex.org/W1818914725","https://openalex.org/W147091061","https://openalex.org/W106396820","https://openalex.org/W2992314257"],"abstract_inverted_index":{"Ataxia-telangiectasia":[0],"(A-T)":[1],"is":[2,210,219],"an":[3,67,185,220],"inherited":[4],"human":[5,50,70],"disease":[6,197,222],"of":[7,34,106,115,136,164,184,247],"unknown":[8],"etiology":[9],"associated":[10],"with":[11,66,79],"neurologic":[12],"degeneration,":[13],"immune":[14],"dysfunction,":[15],"cancer":[16],"risk,":[17],"and":[18,28,84,111,149,171],"genetic":[19],"instability.":[20],"A-T":[21,36,55,62,107,123,165,186,221,241],"cells":[22,56],"are":[23],"sensitive":[24],"to":[25,46,53,102,122,156,213,250],"ionizing":[26],"radiation":[27],"radiomimetic":[29,81],"drugs,":[30],"offering":[31],"the":[32,48,80,104,116,181,235,240,245],"possibility":[33],"cloning":[35],"genes":[37,231],"by":[38],"phenotypic":[39,162,207],"complementation.":[40],"We":[41],"have":[42],"used":[43],"this":[44],"sensitivity":[45,183],"isolate":[47],"first":[49],"cDNAs":[51,87,96,118,226],"reported":[52],"complement":[54,180],"in":[57,141,234,244],"culture.":[58],"Complementation":[59],"group":[60,109,187,200],"D":[61,124,166,201],"fibroblasts":[63,125,167],"were":[64,77,88,97],"transfected":[65],"episomal":[68],"vector-based":[69],"cDNA":[71,130,147,153,177,218],"library,":[72],"approximately":[73],"610,000":[74],"resultant":[75],"transformants":[76],"treated":[78],"drug":[82],"streptonigrin-resistant,":[83],"nine":[85],"unrelated":[86],"recovered":[89],"from":[90],"29":[91],"surviving":[92],"streptonigrin-resistant":[93],"clones.":[94],"Five":[95],"mapped,":[98],"but":[99],"none":[100],"localized":[101],"11q23,":[103],"site":[105],"complementation":[108,208],"A":[110],"C":[112,188],"loci.":[113],"Four":[114],"mapped":[117,155],"conferred":[119],"mutagen":[120,182],"resistance":[121],"on":[126],"secondary":[127],"transfection.":[128],"One":[129],"was":[131],"identified":[132],"as":[133,238],"a":[134,138,151,195,216],"fragment":[135,148],"dek,":[137],"gene":[139,198,242],"involved":[140],"acute":[142],"myeloid":[143],"leukemia.":[144],"The":[145,175,224],"dek":[146],"pCAT4.5,":[150],"4.5-kb":[152],"that":[154,192,206,215,232],"17p11,":[157],"independently":[158],"complemented":[159],"three":[160],"different":[161],"abnormalities":[163],"(mutagen":[168],"sensitivity,":[169],"hyper-recombination,":[170],"radio-resistant":[172],"DNA":[173,251],"synthesis).":[174],"pCAT4.5":[176],"did":[178],"not":[179],"fibroblast":[189],"line,":[190],"suggesting":[191],"it":[193],"represents":[194],"candidate":[196,217],"for":[199],"A-T.":[202],"Our":[203],"results":[204],"indicate":[205],"alone":[209],"insufficient":[211],"evidence":[212],"prove":[214],"gene.":[223],"complementing":[225],"may":[227],"represent":[228],"previously":[229],"uncharacterized":[230],"function":[233],"same":[236],"pathway":[237],"does":[239],"product(s)":[243],"regulation":[246],"cellular":[248],"responses":[249],"damage.":[252]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}