{"id":"https://openalex.org/W2012899158","doi":"https://doi.org/10.1210/jc.2002-020564","title":"A Mutation Affecting the Latency-Associated Peptide of TGF\u03b21 in Camurati-Engelmann Disease Enhances Osteoclast Formationin Vitro","display_name":"A Mutation Affecting the Latency-Associated Peptide of TGF\u03b21 in Camurati-Engelmann Disease Enhances Osteoclast Formationin Vitro","publication_year":2003,"publication_date":"2003-07-01","ids":{"openalex":"https://openalex.org/W2012899158","doi":"https://doi.org/10.1210/jc.2002-020564","mag":"2012899158","pmid":"https://pubmed.ncbi.nlm.nih.gov/12843182"},"language":"en","primary_location":{"id":"doi:10.1210/jc.2002-020564","doi":"https://doi.org/10.1210/jc.2002-020564","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2002-020564","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","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":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5005181010","display_name":"Neil W. A. McGowan","orcid":"https://orcid.org/0000-0002-1732-1113","observed_orcids":["https://orcid.org/0000-0002-1732-1113"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Neil W. A. McGowan","raw_affiliation_strings":["Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom","Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom","institution_ids":["https://openalex.org/I195460627"]},{"raw_affiliation_string":"Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom;","institution_ids":["https://openalex.org/I195460627"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079192220","display_name":"Heather K. Macpherson","orcid":"https://orcid.org/0000-0003-1233-2929","observed_orcids":["https://orcid.org/0000-0003-1233-2929"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Heather MacPherson","raw_affiliation_strings":["Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom","institution_ids":["https://openalex.org/I195460627"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029840713","display_name":"Katrien Janssens","orcid":"https://orcid.org/0000-0002-3249-731X","observed_orcids":["https://orcid.org/0000-0002-3249-731X"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Katrien Janssens","raw_affiliation_strings":["Department of Medical Genetics (K.J., W.V.H.), University of Antwerp, 2610 Antwerp, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics (K.J., W.V.H.), University of Antwerp, 2610 Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039743691","display_name":"Wim Van Hul","orcid":"https://orcid.org/0000-0002-5065-7858","observed_orcids":["https://orcid.org/0000-0002-5065-7858"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Wim Van Hul","raw_affiliation_strings":["Department of Medical Genetics (K.J., W.V.H.), University of Antwerp, 2610 Antwerp, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics (K.J., W.V.H.), University of Antwerp, 2610 Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111675591","display_name":"Julie C. Frith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julie C. Frith","raw_affiliation_strings":["Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom","institution_ids":["https://openalex.org/I195460627"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015200917","display_name":"William D. Fraser","orcid":"https://orcid.org/0000-0003-0556-3358","observed_orcids":["https://orcid.org/0000-0003-0556-3358"]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"William D. Fraser","raw_affiliation_strings":["Department of Clinical Chemistry (W.D.F.), University of Liverpool, L69 3GA Liverpool, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Chemistry (W.D.F.), University of Liverpool, L69 3GA Liverpool, United Kingdom","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036667571","display_name":"Stuart H. Ralston","orcid":"https://orcid.org/0000-0002-2804-7586","observed_orcids":["https://orcid.org/0000-0002-2804-7586"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Stuart H. Ralston","raw_affiliation_strings":["Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom","institution_ids":["https://openalex.org/I195460627"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012116326","display_name":"Miep Helfrich","orcid":"https://orcid.org/0000-0001-5569-591X","observed_orcids":["https://orcid.org/0000-0001-5569-591X"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Miep H. Helfrich","raw_affiliation_strings":["Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Therapeutics (N.W.A.M., H.M., J.C.F., S.H.R., M.H.H.), University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom","institution_ids":["https://openalex.org/I195460627"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5012116326"],"corresponding_institution_ids":["https://openalex.org/I195460627"],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":0.7543,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.63980001,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"88","issue":"7","first_page":"3321","last_page":"3326"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11219","display_name":"Bone Metabolism and Diseases","score":0.8925999999046326,"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/T11219","display_name":"Bone Metabolism and Diseases","score":0.8925999999046326,"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/T11310","display_name":"Connective tissue disorders research","score":0.05990000069141388,"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.023099999874830246,"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/camurati-engelmann-disease","display_name":"Camurati-Engelmann disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/tgf-beta1","display_name":"TGF-\u03b21","score":0.8080000281333923},{"id":"https://openalex.org/keywords/latency-associated-peptide","display_name":"latency-associated peptide","score":0.9089999794960022},{"id":"https://openalex.org/keywords/osteoclastogenesis","display_name":"osteoclastogenesis","score":0.8420000076293945},{"id":"https://openalex.org/keywords/bone-resorption","display_name":"bone resorption","score":0.9750000238418579},{"id":"https://openalex.org/keywords/osteosclerosis","display_name":"osteosclerosis","score":0.7940000295639038},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.5839999914169312}],"concepts":[{"id":"https://openalex.org/C2776033226","wikidata":"https://www.wikidata.org/wiki/Q828410","display_name":"Osteoclast","level":3,"score":0.876984715461731},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6570883989334106},{"id":"https://openalex.org/C673006","wikidata":"https://www.wikidata.org/wiki/Q4941581","display_name":"Bone resorption","level":2,"score":0.5979577898979187},{"id":"https://openalex.org/C2777479973","wikidata":"https://www.wikidata.org/wiki/Q1233526","display_name":"Osteosclerosis","level":2,"score":0.5413586497306824},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5097703337669373},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4938390851020813},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.42637011408805847},{"id":"https://openalex.org/C137061746","wikidata":"https://www.wikidata.org/wiki/Q736033","display_name":"Peripheral blood mononuclear cell","level":3,"score":0.4102836549282074},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3753761649131775},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3752829134464264},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.3559364676475525},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.354175865650177},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3452947735786438},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3240910470485687},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.19252628087997437},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.18160948157310486},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.15219160914421082},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11607640981674194}],"mesh":[{"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":"D000906","descriptor_name":"Antibodies","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D002454","descriptor_name":"Cell Differentiation","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003966","descriptor_name":"Camurati-Engelmann Syndrome","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D003966","descriptor_name":"Camurati-Engelmann Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003966","descriptor_name":"Camurati-Engelmann Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"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":"D007963","descriptor_name":"Leukocytes, Mononuclear","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D010010","descriptor_name":"Osteoclasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":true},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016173","descriptor_name":"Macrophage Colony-Stimulating Factor","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D016212","descriptor_name":"Transforming Growth Factor beta","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016212","descriptor_name":"Transforming Growth Factor beta","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053245","descriptor_name":"RANK Ligand","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053246","descriptor_name":"Receptor Activator of Nuclear Factor-kappa B","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053773","descriptor_name":"Transforming Growth Factor beta1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D066298","descriptor_name":"In Vitro Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1210/jc.2002-020564","doi":"https://doi.org/10.1210/jc.2002-020564","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2002-020564","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","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":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"pmid:12843182","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12843182","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":"The Journal of clinical endocrinology and metabolism","raw_type":"Journal Article"},{"id":"pmh:oai:ueaeprints.uea.ac.uk:31974","doi":null,"is_oa":false,"landing_page_url":"https://ueaeprints.uea.ac.uk/id/eprint/31974/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400384","display_name":"UEA Digital Repository (University of East Anglia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1118541","host_organization_name":"University of East Anglia","host_organization_lineage":["https://openalex.org/I1118541"],"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":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.979200005531311,"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":23,"referenced_works":["https://openalex.org/W1492818016","https://openalex.org/W1547454641","https://openalex.org/W1907841101","https://openalex.org/W1980205607","https://openalex.org/W1981579706","https://openalex.org/W1981998862","https://openalex.org/W1983782405","https://openalex.org/W1992407302","https://openalex.org/W1994756823","https://openalex.org/W1998379420","https://openalex.org/W1999085242","https://openalex.org/W2005201208","https://openalex.org/W2023368952","https://openalex.org/W2040032327","https://openalex.org/W2047076201","https://openalex.org/W2065784567","https://openalex.org/W2066024775","https://openalex.org/W2072273255","https://openalex.org/W2077046161","https://openalex.org/W2079076173","https://openalex.org/W2093631516","https://openalex.org/W2117482844","https://openalex.org/W2167589254"],"related_works":["https://openalex.org/W1999085242","https://openalex.org/W1547454641","https://openalex.org/W4306385868","https://openalex.org/W2560782245","https://openalex.org/W2060515511","https://openalex.org/W4409272325","https://openalex.org/W1998379420","https://openalex.org/W2025905465","https://openalex.org/W2066461263","https://openalex.org/W7099603850"],"abstract_inverted_index":{"Camurati-Engelmann":[0],"disease":[1],"(CED)":[2],"is":[3,22,40,178],"a":[4],"rare":[5],"autosomal":[6],"dominant":[7],"disorder":[8],"characterized":[9],"by":[10,24,115],"bone":[11,97,190,195],"pain":[12],"and":[13,83,96,107,129,165],"osteosclerosis":[14],"affecting":[15],"the":[16,29,35,51,75,108,146,152,159],"diaphysis":[17],"of":[18,38,55,134,140,173,188],"long":[19],"bones.":[20],"CED":[21,72,105,148],"caused":[23],"various":[25],"missense":[26],"mutations":[27],"in":[28,50,61,78,104,110,127,137,145,151,169,197],"TGFB1":[30],"gene":[31],"that":[32,158,183],"encodes":[33],"TGFbeta1,":[34],"most":[36],"common":[37],"which":[39],"an":[41],"arginine-cysteine":[42],"amino":[43],"acid":[44],"change":[45],"at":[46],"codon":[47],"218":[48],"(R218C)":[49],"latency-associated":[52],"peptide":[53],"domain":[54],"TGFbeta1.":[56],"We":[57,156],"studied":[58],"osteoclast":[59,111,141,167,174],"formation":[60,88,112,168,196],"vitro":[62],"from":[63,69],"peripheral":[64],"blood":[65],"mononuclear":[66],"cells":[67],"obtained":[68],"three":[70,147],"related":[71],"patients":[73,149],"harboring":[74],"R218C":[76,160],"mutation,":[77],"comparison":[79],"with":[80,180],"one":[81],"family-based":[82],"several":[84],"unrelated":[85],"controls.":[86],"Osteoclast":[87],"was":[89,113,143],"enhanced":[90],"approximately":[91,99],"5-fold":[92],"(P":[93,101],"<":[94,102],"0.001)":[95,103],"resorption":[98,191],"10-fold":[100],"patients,":[106],"increase":[109],"inhibited":[114],"soluble":[116],"TGFbeta":[117],"type":[118],"II":[119],"receptor.":[120],"Total":[121],"serum":[122],"TGFbeta1":[123,136,163],"levels":[124],"were":[125],"similar":[126],"affected":[128],"unaffected":[130,153],"subjects,":[131],"but":[132],"concentrations":[133],"active":[135],"conditioned":[138],"medium":[139],"cultures":[142],"higher":[144],"than":[150],"family":[154],"member.":[155],"concluded":[157],"mutation":[161],"increases":[162],"bioactivity":[164],"enhances":[166],"vitro.":[170],"The":[171],"activation":[172],"activity":[175],"noted":[176],"here":[177],"consistent":[179],"clinical":[181],"reports":[182],"have":[184],"shown":[185],"biochemical":[186],"evidence":[187],"increased":[189],"as":[192,194],"well":[193],"CED.":[198]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}