{"id":"https://openalex.org/W2157454773","doi":null,"title":"Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.","display_name":"Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.","publication_year":1996,"publication_date":"1996-10-15","ids":{"openalex":"https://openalex.org/W2157454773","mag":"2157454773","pmid":"https://pubmed.ncbi.nlm.nih.gov/8840960"},"language":"en","primary_location":{"id":"pmid:8840960","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8840960","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/A5105934793","display_name":"Anne Birgitte Und\u00e9n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"A B Unden","raw_affiliation_strings":["Karolinska Institute, Department of Biosciences at Novum, Center for Nutrition and Toxicology, Huddinge, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Karolinska Institute, Department of Biosciences at Novum, Center for Nutrition and Toxicology, Huddinge, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050662089","display_name":"Erika Holmberg","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Holmberg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012425630","display_name":"Barbro Lundh-Rozell","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B Lundh-Rozell","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004455626","display_name":"Mona St\u00e5hle\u2010B\u00e4ckdahl","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M St\u00e4hle-B\u00e4ckdahl","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012104864","display_name":"Peter G. Zaphiropoulos","orcid":"https://orcid.org/0000-0003-4298-3861","observed_orcids":["https://orcid.org/0000-0003-4298-3861"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P G Zaphiropoulos","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042257111","display_name":"Rune Toftg\u00e5rd","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Toftg\u00e5rd","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5060828765","display_name":"Igor Vo\u0159echovsk\u00fd","orcid":"https://orcid.org/0000-0002-6740-6502","observed_orcids":["https://orcid.org/0000-0002-6740-6502"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I Vorechovsky","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":3.0599,"has_fulltext":false,"cited_by_count":203,"citation_normalized_percentile":{"value":0.92788709,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"56","issue":"20","first_page":"4562","last_page":"5"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12009","display_name":"Hedgehog Signaling Pathway Studies","score":0.9980000257492065,"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/T12009","display_name":"Hedgehog Signaling Pathway Studies","score":0.9980000257492065,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/T10929","display_name":"Wnt/\u03b2-catenin signaling in development and cancer","score":9.999999747378752e-05,"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/patched","display_name":"Patched","score":0.8450000286102295},{"id":"https://openalex.org/keywords/patched-gene","display_name":"patched gene","score":0.7099999785423279},{"id":"https://openalex.org/keywords/gorlin-syndrome","display_name":"Gorlin syndrome","score":0.9340000152587891},{"id":"https://openalex.org/keywords/basal-cell-carcinoma","display_name":"basal cell carcinoma","score":0.9950000047683716},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.8849999904632568},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.800000011920929},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.9629999995231628},{"id":"https://openalex.org/keywords/frameshift-deletion","display_name":"frameshift deletion","score":0.8489999771118164},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9509999752044678},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C2776315809","wikidata":"https://www.wikidata.org/wiki/Q1536720","display_name":"Nevoid basal-cell carcinoma syndrome","level":4,"score":0.9807888269424438},{"id":"https://openalex.org/C2777994357","wikidata":"https://www.wikidata.org/wiki/Q24781250","display_name":"Patched","level":4,"score":0.8431049585342407},{"id":"https://openalex.org/C2779477247","wikidata":"https://www.wikidata.org/wiki/Q18030895","display_name":"PTCH1","level":4,"score":0.8157694339752197},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7159227132797241},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.6074544191360474},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5846176743507385},{"id":"https://openalex.org/C2778804307","wikidata":"https://www.wikidata.org/wiki/Q809758","display_name":"Basal cell carcinoma","level":3,"score":0.5593212842941284},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5356895923614502},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5172051191329956},{"id":"https://openalex.org/C2909761261","wikidata":"https://www.wikidata.org/wiki/Q1536720","display_name":"Basal Cell Nevus Syndrome","level":4,"score":0.4692891538143158},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3491315245628357},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3174717426300049},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.28874337673187256},{"id":"https://openalex.org/C2776637008","wikidata":"https://www.wikidata.org/wiki/Q14860072","display_name":"Sonic hedgehog","level":3,"score":0.2718661427497864},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19744673371315002},{"id":"https://openalex.org/C3019992690","wikidata":"https://www.wikidata.org/wiki/Q92767510","display_name":"Basal cell","level":2,"score":0.16151773929595947},{"id":"https://openalex.org/C88498014","wikidata":"https://www.wikidata.org/wiki/Q14859918","display_name":"Hedgehog signaling pathway","level":3,"score":0.1465126872062683},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.13449490070343018}],"mesh":[{"descriptor_ui":"D000072079","descriptor_name":"Patched Receptors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000072081","descriptor_name":"Patched-1 Receptor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001478","descriptor_name":"Basal Cell Nevus Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:8840960","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8840960","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:2157454773","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8840960","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":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1525233865","https://openalex.org/W1990944246","https://openalex.org/W2017726138","https://openalex.org/W2030374966","https://openalex.org/W2037917041","https://openalex.org/W2044616474","https://openalex.org/W2071254108","https://openalex.org/W2104153970","https://openalex.org/W2106039705","https://openalex.org/W2122653004","https://openalex.org/W2126090166","https://openalex.org/W2127001212","https://openalex.org/W2146322961","https://openalex.org/W2170888506"],"related_works":["https://openalex.org/W2147539802","https://openalex.org/W1980913763","https://openalex.org/W2051346817","https://openalex.org/W2078280461","https://openalex.org/W1872339370","https://openalex.org/W2078109071","https://openalex.org/W2473299880","https://openalex.org/W1517007299","https://openalex.org/W2405173620","https://openalex.org/W2127001212"],"abstract_inverted_index":{"The":[0,27],"nevoid":[1],"basal":[2,24,56,102,158],"cell":[3,25,57,103,159],"carcinoma":[4,104],"(Gorlin)":[5],"syndrome":[6],"(NBCCS)":[7],"is":[8],"an":[9,178],"autosomal":[10],"dominant":[11],"disorder":[12],"characterized":[13],"by":[14,85,162],"multiple":[15],"developmental":[16],"defects":[17],"and":[18,45,52],"cancer":[19],"susceptibility,":[20],"in":[21,48,54,65,78,93,97,123,130,141,156,183],"particular":[22],"to":[23,38],"carcinoma.":[26],"human":[28,190],"homologue":[29],"of":[30,87,91,113,117,138,186],"Drosophila":[31],"patched":[32],"(PTCH)":[33],"was":[34,83,128],"recently":[35],"identified,":[36],"mapped":[37],"the":[39,88,98,111,114,131,146,184,187],"NBCCS":[40,51,82,148],"locus":[41],"on":[42],"chromosome":[43],"9q22.3,":[44],"found":[46],"mutated":[47],"patients":[49,166],"with":[50,68,81,167],"also":[53,151],"sporadic":[55,168],"carcinomas.":[58],"Here":[59],"we":[60],"show":[61,110,152],"germ-line":[62,74],"PTCH":[63,75,92,139,154,176],"mutations":[64,155],"three":[66],"families":[67],"NBCCS.":[69],"We":[70,150],"demonstrate":[71],"that":[72],"a":[73,94,120,124],"frameshift":[76],"deletion":[77],"one":[79],"patient":[80,107],"accompanied":[84],"loss":[86,112],"normal":[89,115],"copy":[90,116],"tumor":[95,180],"developed":[96],"same":[99,147],"patient.":[100,149],"Another":[101],"from":[105,145],"this":[106],"did":[108],"not":[109],"PTCH,":[118],"instead":[119],"missense":[121],"mutation":[122],"highly":[125],"conserved":[126],"residue":[127],"identified":[129,161],"nondeleted":[132],"allele,":[133],"illustrating":[134],"two":[135],"different":[136,142],"mechanisms":[137],"inactivation":[140],"tumors":[143],"derived":[144],"somatic":[153],"4":[157],"carcinomas":[160],"analyzing":[163],"18":[164],"non-NBCCS":[165],"tumors.":[169],"These":[170],"data":[171],"provide":[172],"further":[173],"support":[174],"for":[175],"as":[177],"important":[179],"suppressor":[181],"gene":[182],"development":[185],"most":[188],"common":[189],"cancer.":[191]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
