{"id":"https://openalex.org/W1977688366","doi":"https://doi.org/10.1093/nar/gnh059","title":"A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome","display_name":"A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome","publication_year":2004,"publication_date":"2004-04-19","ids":{"openalex":"https://openalex.org/W1977688366","doi":"https://doi.org/10.1093/nar/gnh059","mag":"1977688366","pmid":"https://pubmed.ncbi.nlm.nih.gov/15096559","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/407839"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gnh059","doi":"https://doi.org/10.1093/nar/gnh059","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gnh059","pdf_url":"https://academic.oup.com/nar/article-pdf/32/7/e63/3829013/gnh059.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/nar/article-pdf/32/7/e63/3829013/gnh059.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023444015","display_name":"Abdullah Karada\u011f","orcid":"https://orcid.org/0000-0003-0969-7038","observed_orcids":["https://orcid.org/0000-0003-0969-7038"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210088259","display_name":"National Institute of Dental and Craniofacial Research","ror":"https://ror.org/004a2wv92","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"A. Karadag","raw_affiliation_strings":["Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892-4320, USA. akaradag@dir.nidcr.nih.gov"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892-4320, USA. akaradag@dir.nidcr.nih.gov","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5023444015"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210088259"],"apc_list":{"value":3992,"currency":"USD","value_usd":3992},"apc_paid":null,"fwci":1.4203,"has_fulltext":true,"cited_by_count":43,"citation_normalized_percentile":{"value":0.78098099,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"32","issue":"7","first_page":"e63","last_page":"e63"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10207","display_name":"Advanced biosensing and bioanalysis techniques","score":0.490200012922287,"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/T10207","display_name":"Advanced biosensing and bioanalysis techniques","score":0.490200012922287,"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/T10432","display_name":"DNA and Nucleic Acid Chemistry","score":0.1340000033378601,"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/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.08500000089406967,"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/fibrous-dysplasia","display_name":"fibrous dysplasia","score":0.9509999752044678},{"id":"https://openalex.org/keywords/mccune-albright-syndrome","display_name":"McCune-Albright syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/gnas-mutation","display_name":"GNAS mutation","score":0.7379999756813049},{"id":"https://openalex.org/keywords/somatic-mosaicism","display_name":"somatic mosaicism","score":0.8650000095367432},{"id":"https://openalex.org/keywords/fluorescence-resonance-energy-transfer","display_name":"fluorescence resonance energy transfer","score":0.7540000081062317},{"id":"https://openalex.org/keywords/gs-alpha-protein","display_name":"Gs alpha protein","score":0.8109999895095825},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7289999723434448},{"id":"https://openalex.org/keywords/bone-lesions","display_name":"bone lesions","score":0.5350000262260437}],"concepts":[{"id":"https://openalex.org/C74231797","wikidata":"https://www.wikidata.org/wiki/Q14905160","display_name":"GNAS complex locus","level":3,"score":0.9342632293701172},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8200342655181885},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.793703556060791},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6700050830841064},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.668786883354187},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5702729225158691},{"id":"https://openalex.org/C2781362533","wikidata":"https://www.wikidata.org/wiki/Q1410864","display_name":"Fibrous dysplasia","level":2,"score":0.49486321210861206},{"id":"https://openalex.org/C2777004107","wikidata":"https://www.wikidata.org/wiki/Q727008","display_name":"McCune\u2013Albright syndrome","level":4,"score":0.4617678225040436},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4438113570213318},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.41927289962768555},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.41227132081985474},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3547440767288208},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26776495575904846},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.13569387793540955},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.10496774315834045},{"id":"https://openalex.org/C2778367240","wikidata":"https://www.wikidata.org/wiki/Q224513","display_name":"Precocious puberty","level":3,"score":0.0},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002864","descriptor_name":"Chromogranins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D005357","descriptor_name":"Fibrous Dysplasia of Bone","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005359","descriptor_name":"Fibrous Dysplasia, Polyostotic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012015","descriptor_name":"Reference Standards","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015342","descriptor_name":"DNA Probes","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":"D019205","descriptor_name":"GTP-Binding Protein alpha Subunits, Gs","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020135","descriptor_name":"Peptide Nucleic Acids","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020135","descriptor_name":"Peptide Nucleic Acids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D031541","descriptor_name":"Fluorescence Resonance Energy Transfer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/nar/gnh059","doi":"https://doi.org/10.1093/nar/gnh059","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gnh059","pdf_url":"https://academic.oup.com/nar/article-pdf/32/7/e63/3829013/gnh059.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:162298","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC407839","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":"pmh:oai:pubmedcentral.nih.gov:407839","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/407839","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Nucleic Acids Res","raw_type":"Text"},{"id":"pmid:15096559","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15096559","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":"Nucleic acids research","raw_type":"Journal Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/240100","doi":null,"is_oa":false,"landing_page_url":"http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000221145400029&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/nar/gnh059","doi":"https://doi.org/10.1093/nar/gnh059","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gnh059","pdf_url":"https://academic.oup.com/nar/article-pdf/32/7/e63/3829013/gnh059.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1977688366.pdf","grobid_xml":"https://content.openalex.org/works/W1977688366.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1494443164","https://openalex.org/W1602827378","https://openalex.org/W1831122300","https://openalex.org/W1967092942","https://openalex.org/W1972772105","https://openalex.org/W1976712578","https://openalex.org/W1977556078","https://openalex.org/W1981550349","https://openalex.org/W1982251587","https://openalex.org/W1982544552","https://openalex.org/W1983768530","https://openalex.org/W1985425192","https://openalex.org/W1986171599","https://openalex.org/W1986526390","https://openalex.org/W1997254490","https://openalex.org/W2005055200","https://openalex.org/W2019359209","https://openalex.org/W2019818589","https://openalex.org/W2035560383","https://openalex.org/W2037204981","https://openalex.org/W2045409504","https://openalex.org/W2055245741","https://openalex.org/W2063899678","https://openalex.org/W2074303856","https://openalex.org/W2074435495","https://openalex.org/W2076587206","https://openalex.org/W2080715488","https://openalex.org/W2085069351","https://openalex.org/W2105735597","https://openalex.org/W2107691596","https://openalex.org/W2112602336","https://openalex.org/W2114607842","https://openalex.org/W2126858699","https://openalex.org/W2128477255","https://openalex.org/W2160432532","https://openalex.org/W2168078340","https://openalex.org/W2245273009","https://openalex.org/W2313368498","https://openalex.org/W4231163667"],"related_works":["https://openalex.org/W2766948392","https://openalex.org/W4390971852","https://openalex.org/W7095084659","https://openalex.org/W2113785004","https://openalex.org/W1985425192","https://openalex.org/W2901185801","https://openalex.org/W4313455183","https://openalex.org/W2114300068","https://openalex.org/W1997237480","https://openalex.org/W2079773983"],"abstract_inverted_index":{"Somatic":[0,11],"mutations":[1,14,181],"are":[2,51],"present":[3],"in":[4,7,40,61,68,116,159,182],"various":[5],"proportions":[6],"numerous":[8],"developmental":[9],"pathologies.":[10],"activating":[12],"missense":[13],"of":[15,31,34,78,91,96,111,125,129,147,162,180,186],"the":[16,20,29,58,76,92,109,126,155,178],"GNAS":[17,59],"gene":[18],"encoding":[19],"Gs(alpha)":[21],"protein":[22],"have":[23,65],"previously":[24],"been":[25,73],"shown":[26,74],"to":[27,107,113,153],"be":[28,175],"cause":[30],"fibrous":[32],"dysplasia":[33],"bone":[35,50],"(FD)/McCune-Albright":[36],"syndrome":[37],"(MAS).":[38],"Because":[39],"MAS":[41],"patients,":[42],"tissues":[43],"as":[44,46],"diverse":[45],"melanocytes,":[47],"gonads":[48],"and":[49,87,98,164,172],"affected,":[52],"it":[53,71],"is":[54],"generally":[55],"accepted":[56],"that":[57,75],"mutation":[60],"this":[62],"disease":[63],"must":[64],"occurred":[66],"early":[67],"development.":[69],"Interestingly,":[70],"has":[72],"development":[77],"an":[79,104],"active":[80],"FD":[81],"lesion":[82],"may":[83],"require":[84],"both":[85],"normal":[86,114],"mutant":[88,112,149,157],"cells.":[89],"Studies":[90],"somatic":[93,101],"mosaic":[94],"states":[95],"FD/MAS":[97,170],"many":[99],"other":[100],"diseases":[102,187],"need":[103],"accurate":[105],"method":[106,122],"determine":[108],"ratio":[110,128],"cells":[115,130,158],"a":[117,132,144,160,183],"given":[118],"tissue.":[119],"A":[120],"new":[121],"for":[123,177],"quantification":[124,179],"mutant:normal":[127],"using":[131],"PNA":[133],"hybridization":[134],"probe-based":[135],"FRET":[136],"technique":[137],"was":[138,151],"developed.":[139],"This":[140],"novel":[141],"technique,":[142],"with":[143],"linear":[145],"sensitivity":[146],"2.5%":[148],"alleles,":[150],"used":[152],"detect":[154],"percentage":[156],"number":[161],"tissue":[163],"cell":[165],"culture":[166],"samples":[167],"derived":[168],"from":[169],"lesions":[171],"could":[173],"easily":[174],"adapted":[176],"large":[184],"spectrum":[185],"including":[188],"cancer.":[189]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}