{"id":"https://openalex.org/W1925896442","doi":null,"title":"Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene.","display_name":"Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene.","publication_year":1998,"publication_date":"1998-01-01","ids":{"openalex":"https://openalex.org/W1925896442","mag":"1925896442","pmid":"https://pubmed.ncbi.nlm.nih.gov/9426066"},"language":"en","primary_location":{"id":"pmid:9426066","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9426066","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":"Cancer research","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5103645728","display_name":"Hensin Tsao","orcid":"https://orcid.org/0000-0002-2204-2071","observed_orcids":["https://orcid.org/0000-0002-2204-2071"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H Tsao","raw_affiliation_strings":["Department of Dermatology, Massachusetts General Hospital and Dana-Farber/Partner Cancer Care, Boston 02114, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Massachusetts General Hospital and Dana-Farber/Partner Cancer Care, Boston 02114, USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":null,"display_name":"E Benoit","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Benoit","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110017031","display_name":"A J Sober","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A J Sober","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005300334","display_name":"Carol J. Thiele","orcid":"https://orcid.org/0000-0003-2869-7690","observed_orcids":["https://orcid.org/0000-0003-2869-7690"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Thiele","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5084436319","display_name":"Frank G. Haluska","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F G Haluska","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":5.7367,"has_fulltext":false,"cited_by_count":80,"citation_normalized_percentile":{"value":0.96458618,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"58","issue":"1","first_page":"109","last_page":"13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10583","display_name":"Cancer-related Molecular Pathways","score":0.9883000254631042,"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"}},"topics":[{"id":"https://openalex.org/T10583","display_name":"Cancer-related Molecular Pathways","score":0.9883000254631042,"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"}},{"id":"https://openalex.org/T11328","display_name":"Ocular Oncology and Treatments","score":0.006899999920278788,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T12820","display_name":"Chromatin Remodeling and Cancer","score":0.00039999998989515007,"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/cdk4","display_name":"CDK4","score":0.9160000085830688},{"id":"https://openalex.org/keywords/cdkn2a-p16","display_name":"CDKN2A/p16","score":0.9319999814033508},{"id":"https://openalex.org/keywords/retinoblastoma-pathway","display_name":"retinoblastoma pathway","score":0.9369999766349792},{"id":"https://openalex.org/keywords/metastatic-melanoma","display_name":"metastatic melanoma","score":0.9160000085830688},{"id":"https://openalex.org/keywords/uveal-melanoma","display_name":"uveal melanoma","score":0.9580000042915344},{"id":"https://openalex.org/keywords/neuroblastoma","display_name":"neuroblastoma","score":0.8769999742507935},{"id":"https://openalex.org/keywords/colon-cancer","display_name":"colon cancer","score":0.9049999713897705},{"id":"https://openalex.org/keywords/exon-2","display_name":"exon 2","score":0.656000018119812},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.6600000262260437}],"concepts":[{"id":"https://openalex.org/C2780265364","wikidata":"https://www.wikidata.org/wiki/Q5009957","display_name":"CDKN2A","level":3,"score":0.8151447176933289},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.7148700952529907},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5951410531997681},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5533235669136047},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5478609800338745},{"id":"https://openalex.org/C2777658100","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Melanoma","level":2,"score":0.5354348421096802},{"id":"https://openalex.org/C2776577112","wikidata":"https://www.wikidata.org/wiki/Q500695","display_name":"Retinoblastoma","level":3,"score":0.5065032243728638},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.46858757734298706},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4367290139198303},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.42713767290115356},{"id":"https://openalex.org/C194232998","wikidata":"https://www.wikidata.org/wiki/Q1606712","display_name":"Transition (genetics)","level":3,"score":0.4183441400527954},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41656115651130676},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.35950490832328796},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35481613874435425}],"mesh":[{"descriptor_ui":"D001665","descriptor_name":"Binding Sites","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003110","descriptor_name":"Colonic Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009447","descriptor_name":"Neuroblastoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014407","descriptor_name":"Tumor Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018844","descriptor_name":"Cyclin-Dependent Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019941","descriptor_name":"Cyclin-Dependent Kinase Inhibitor p16","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051358","descriptor_name":"Cyclin-Dependent Kinase 4","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:9426066","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9426066","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":"Cancer research","raw_type":"Journal Article"},{"id":"mag:1925896442","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9426066","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":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G9000877692","display_name":"Dermatology Training Grant","funder_award_id":"T32AR007098","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"}],"funders":[{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2152482554","https://openalex.org/W2051506850","https://openalex.org/W1999953358","https://openalex.org/W7096395071","https://openalex.org/W2038424196","https://openalex.org/W115213939","https://openalex.org/W2055324830","https://openalex.org/W2096415880","https://openalex.org/W2017791020","https://openalex.org/W7133090978"],"abstract_inverted_index":{"Mutations":[0],"in":[1,5,12,34,40,47,63,74,110,127,154],"genes":[2],"that":[3,22],"lie":[4],"the":[6,13,128,142,155],"retinoblastoma":[7],"pathway":[8],"have":[9,36,60],"been":[10,37,61],"implicated":[11],"pathogenesis":[14],"of":[15,81,108,113,133,158],"many":[16],"tumor":[17],"types.":[18],"Two":[19],"critical":[20,130],"components":[21],"determine":[23],"progression":[24],"from":[25,120],"G1":[26],"to":[27],"S":[28],"include":[29],"p16/CDKN2A":[30,35],"and":[31,69,98,141],"CDK4.":[32,114,159],"Alterations":[33],"well":[38],"documented":[39],"multiple":[41],"cancers,":[42],"including":[43],"melanoma.":[44],"However,":[45],"changes":[46,153],"CDK4":[48],"are":[49],"apparently":[50],"more":[51],"rare.":[52],"Only":[53],"two":[54,125],"alterations,":[55],"both":[56],"at":[57,138,145],"codon":[58,139,146],"24,":[59],"identified":[62],"CDK4:":[64,134],"an":[65],"activating":[66],"arginine-to-cysteine":[67],"transition":[68,137],"a":[70,79,135],"germ-line":[71],"arginine-to-histidine":[72,143],"substitution":[73],"one":[75],"French":[76],"kindred.":[77],"In":[78],"survey":[80],"20":[82,99],"neuroblastomas,":[83],"17":[84],"uncultured":[85,89],"metastatic":[86,121],"melanomas,":[87,92,122],"33":[88],"primary":[90,100],"uveal":[91],"8":[93],"colon":[94,101],"cancer":[95,102],"cell":[96,117],"lines,":[97],"samples,":[103],"we":[104,123],"found":[105],"no":[106],"evidence":[107],"mutations":[109],"exon":[111,131],"2":[112,132],"From":[115],"our":[116],"lines":[118],"derived":[119],"detected":[124],"alterations":[126],"functionally":[129],"lysine-to-glutamine":[136],"22":[140],"mutation":[144],"24.":[147],"These":[148],"findings":[149],"document":[150],"several":[151],"novel":[152],"p16-binding":[156],"region":[157]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
