{"id":"https://openalex.org/W3036469910","doi":"https://doi.org/10.1016/j.jid.2020.03.267","title":"261 Assessment of readthrough of premature termination codons in xeroderma pigmentosum group C patients by real-time PCR and immunohistochemistry","display_name":"261 Assessment of readthrough of premature termination codons in xeroderma pigmentosum group C patients by real-time PCR and immunohistochemistry","publication_year":2020,"publication_date":"2020-06-16","ids":{"openalex":"https://openalex.org/W3036469910","doi":"https://doi.org/10.1016/j.jid.2020.03.267","mag":"3036469910"},"language":"en","primary_location":{"id":"doi:10.1016/j.jid.2020.03.267","doi":"https://doi.org/10.1016/j.jid.2020.03.267","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2020.03.267","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/j.jid.2020.03.267","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113624382","display_name":"E. R. Heller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E.R. Heller","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055603798","display_name":"Laila Al\u2010Eryani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L. Al-Eryani","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076794508","display_name":"S.G. Khan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S.G. Khan","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009127298","display_name":"Deborah Tamura","orcid":"https://orcid.org/0000-0003-4812-5622","observed_orcids":["https://orcid.org/0000-0003-4812-5622","https://orcid.org/0009-0009-7488-8368"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. Tamura","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039497365","display_name":"C.R. Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C.R. Lee","raw_affiliation_strings":["Pathology, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pathology, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":null,"display_name":"R.M. Simpson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R.M. Simpson","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003691102","display_name":"John J. DiGiovanna","orcid":"https://orcid.org/0000-0002-2750-2313","observed_orcids":["https://orcid.org/0000-0002-2750-2313"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J.J. DiGiovanna","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005457224","display_name":"Kenneth H. Kraemer","orcid":"https://orcid.org/0000-0002-2689-3316","observed_orcids":["https://orcid.org/0000-0002-2689-3316"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K.H. Kraemer","raw_affiliation_strings":["Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lab Cancer Biol and Gen, NCI, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I4210140884"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210140884"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.05979043,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"140","issue":"7","first_page":"S31","last_page":"S31"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.8554999828338623,"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":0.8554999828338623,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.05820000171661377,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.04349999874830246,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/xeroderma-pigmentosum-group-c","display_name":"xeroderma pigmentosum group C","score":0.9990000128746033},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.8140000104904175},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.6970000267028809},{"id":"https://openalex.org/keywords/readthrough","display_name":"readthrough","score":0.6129999756813049},{"id":"https://openalex.org/keywords/amlexanox","display_name":"amlexanox","score":0.8999999761581421},{"id":"https://openalex.org/keywords/aminoglycosides","display_name":"aminoglycosides","score":0.9900000095367432},{"id":"https://openalex.org/keywords/g418","display_name":"G418","score":0.9129999876022339},{"id":"https://openalex.org/keywords/xpc-protein","display_name":"XPC protein","score":0.8560000061988831},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.8450000286102295},{"id":"https://openalex.org/keywords/dna-repair-disorders","display_name":"DNA repair disorders","score":0.6549999713897705},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"precision medicine","score":0.6629999876022339},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.800000011920929},{"id":"https://openalex.org/keywords/lymphoblasts","display_name":"lymphoblasts","score":0.9929999709129333}],"concepts":[{"id":"https://openalex.org/C2778378917","wikidata":"https://www.wikidata.org/wiki/Q612693","display_name":"Xeroderma pigmentosum","level":4,"score":0.954169750213623},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.6316604018211365},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5521624088287354},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5149275064468384},{"id":"https://openalex.org/C74864618","wikidata":"https://www.wikidata.org/wiki/Q2332446","display_name":"Staining","level":2,"score":0.4590640664100647},{"id":"https://openalex.org/C2777624698","wikidata":"https://www.wikidata.org/wiki/Q505531","display_name":"Dermis","level":2,"score":0.43994683027267456},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.3192077875137329},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.2865196466445923},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1787487268447876},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.13870757818222046},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jid.2020.03.267","doi":"https://doi.org/10.1016/j.jid.2020.03.267","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2020.03.267","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.jid.2020.03.267","doi":"https://doi.org/10.1016/j.jid.2020.03.267","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2020.03.267","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"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":0,"referenced_works":[],"related_works":["https://openalex.org/W4232918796","https://openalex.org/W2606131109","https://openalex.org/W2154414728","https://openalex.org/W2341392310","https://openalex.org/W2062680823","https://openalex.org/W2134371533","https://openalex.org/W2607105616","https://openalex.org/W2606403193","https://openalex.org/W2734302300","https://openalex.org/W2465456955"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2020-06-25T00:00:00"}
