{"id":"https://openalex.org/W2329566337","doi":"https://doi.org/10.1097/00019616-200209000-00012","title":"The Gene for High Bone Mass","display_name":"The Gene for High Bone Mass","publication_year":2002,"publication_date":"2002-09-01","ids":{"openalex":"https://openalex.org/W2329566337","doi":"https://doi.org/10.1097/00019616-200209000-00012","mag":"2329566337"},"language":"en","primary_location":{"id":"doi:10.1097/00019616-200209000-00012","doi":"https://doi.org/10.1097/00019616-200209000-00012","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00019616-200209000-00012","pdf_url":null,"source":{"id":"https://openalex.org/S62916020","display_name":"The Endocrinologist","issn_l":"1051-2144","issn":["1051-2144","1539-9192"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Endocrinologist","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5060693982","display_name":"Mark L. Johnson","orcid":"https://orcid.org/0000-0002-7762-8731","observed_orcids":["https://orcid.org/0000-0002-7762-8731"]},"institutions":[{"id":"https://openalex.org/I114493937","display_name":"Creighton University","ror":"https://ror.org/05wf30g94","country_code":"US","type":"education","lineage":["https://openalex.org/I114493937"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Mark L. Johnson","raw_affiliation_strings":["Associate Professor of Medicine and Associate Professor of Biomedical Sciences, \u2020M.D./Ph.D. Candidate, and \u2021Professor of Medicine and Chief, Division of Endocrinology, Osteoporosis Research Center, Creighton University School of Medicine, Omaha, Nebraska","Mark L. Johnson, Ph.D., Osteoporosis Research Center, 601 North 30th Street, Suite 6730, Creighton University School of Medicine, Omaha, NE 68131. Telephone: 402-280-4190; Fax: 402-280-5173; E-mail: [email\u00a0protected]","Creighton University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Associate Professor of Medicine and Associate Professor of Biomedical Sciences, \u2020M.D./Ph.D. Candidate, and \u2021Professor of Medicine and Chief, Division of Endocrinology, Osteoporosis Research Center, Creighton University School of Medicine, Omaha, Nebraska","institution_ids":["https://openalex.org/I114493937"]},{"raw_affiliation_string":"Mark L. Johnson, Ph.D., Osteoporosis Research Center, 601 North 30th Street, Suite 6730, Creighton University School of Medicine, Omaha, NE 68131. Telephone: 402-280-4190; Fax: 402-280-5173; E-mail: [email\u00a0protected]","institution_ids":["https://openalex.org/I114493937"]},{"raw_affiliation_string":"Creighton University","institution_ids":["https://openalex.org/I114493937"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016170663","display_name":"Jason L. Picconi","orcid":"https://orcid.org/0000-0003-1098-8158","observed_orcids":["https://orcid.org/0000-0003-1098-8158"]},"institutions":[{"id":"https://openalex.org/I114493937","display_name":"Creighton University","ror":"https://ror.org/05wf30g94","country_code":"US","type":"education","lineage":["https://openalex.org/I114493937"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jason L. Picconi","raw_affiliation_strings":["Creighton University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Creighton University","institution_ids":["https://openalex.org/I114493937"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5052478195","display_name":"Robert R. Recker","orcid":"https://orcid.org/0000-0002-8774-1404","observed_orcids":["https://orcid.org/0000-0002-8774-1404"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Robert R. Recker","raw_affiliation_strings":["Department of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5060693982"],"corresponding_institution_ids":["https://openalex.org/I114493937"],"apc_list":null,"apc_paid":null,"fwci":1.9548,"has_fulltext":false,"cited_by_count":37,"citation_normalized_percentile":{"value":0.86250634,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"12","issue":"5","first_page":"445","last_page":"453"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10071","display_name":"Bone health and osteoporosis research","score":0.9531000256538391,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"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/T10071","display_name":"Bone health and osteoporosis research","score":0.9531000256538391,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports 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/T11219","display_name":"Bone Metabolism and Diseases","score":0.03959999978542328,"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/T10929","display_name":"Wnt/\u03b2-catenin signaling in development and cancer","score":0.0020000000949949026,"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/high-bone-mass","display_name":"high bone mass","score":0.9779999852180481},{"id":"https://openalex.org/keywords/lrp5","display_name":"LRP5","score":0.7279999852180481},{"id":"https://openalex.org/keywords/wnt-signaling","display_name":"Wnt signaling","score":0.9440000057220459},{"id":"https://openalex.org/keywords/osteoporosis","display_name":"osteoporosis","score":0.7369999885559082},{"id":"https://openalex.org/keywords/true-density","display_name":"true density","score":0.4429999887943268},{"id":"https://openalex.org/keywords/transgenic-mice","display_name":"transgenic mice","score":0.6589999794960022},{"id":"https://openalex.org/keywords/osteopetrosis","display_name":"osteopetrosis","score":0.574999988079071},{"id":"https://openalex.org/keywords/paget-s-disease","display_name":"Paget's disease","score":0.9869999885559082}],"concepts":[{"id":"https://openalex.org/C113324615","wikidata":"https://www.wikidata.org/wiki/Q472302","display_name":"Login","level":2,"score":0.8408239483833313},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6960378289222717},{"id":"https://openalex.org/C108827166","wikidata":"https://www.wikidata.org/wiki/Q175975","display_name":"Internet privacy","level":1,"score":0.6063646078109741},{"id":"https://openalex.org/C2778720087","wikidata":"https://www.wikidata.org/wiki/Q201436","display_name":"Logo (programming language)","level":2,"score":0.5798925757408142},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.5241549015045166},{"id":"https://openalex.org/C2779235478","wikidata":"https://www.wikidata.org/wiki/Q286576","display_name":"Register (sociolinguistics)","level":2,"score":0.4201894700527191},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.264899343252182},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.20309948921203613},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1097/00019616-200209000-00012","doi":"https://doi.org/10.1097/00019616-200209000-00012","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00019616-200209000-00012","pdf_url":null,"source":{"id":"https://openalex.org/S62916020","display_name":"The Endocrinologist","issn_l":"1051-2144","issn":["1051-2144","1539-9192"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Endocrinologist","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9074000120162964}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":74,"referenced_works":["https://openalex.org/W1480461723","https://openalex.org/W1486376581","https://openalex.org/W1492818016","https://openalex.org/W1504655784","https://openalex.org/W1549053710","https://openalex.org/W1579881301","https://openalex.org/W1589352523","https://openalex.org/W1599281136","https://openalex.org/W1611720630","https://openalex.org/W1635607892","https://openalex.org/W1692891995","https://openalex.org/W1841160455","https://openalex.org/W1955186839","https://openalex.org/W1964840290","https://openalex.org/W1969062948","https://openalex.org/W1979030140","https://openalex.org/W1982926533","https://openalex.org/W1985326986","https://openalex.org/W1985547301","https://openalex.org/W1989689857","https://openalex.org/W1990502365","https://openalex.org/W1993377078","https://openalex.org/W1995972008","https://openalex.org/W1998546527","https://openalex.org/W2000972013","https://openalex.org/W2002073678","https://openalex.org/W2004486036","https://openalex.org/W2014995450","https://openalex.org/W2015602170","https://openalex.org/W2018330233","https://openalex.org/W2018356179","https://openalex.org/W2020522004","https://openalex.org/W2021500253","https://openalex.org/W2023601960","https://openalex.org/W2033211194","https://openalex.org/W2037517054","https://openalex.org/W2037750372","https://openalex.org/W2041455826","https://openalex.org/W2045520966","https://openalex.org/W2048464476","https://openalex.org/W2051997551","https://openalex.org/W2055808176","https://openalex.org/W2057333706","https://openalex.org/W2058616210","https://openalex.org/W2060800163","https://openalex.org/W2062820673","https://openalex.org/W2063282594","https://openalex.org/W2064480015","https://openalex.org/W2066464418","https://openalex.org/W2072231974","https://openalex.org/W2074551971","https://openalex.org/W2074587577","https://openalex.org/W2075319861","https://openalex.org/W2077359995","https://openalex.org/W2081985759","https://openalex.org/W2083721810","https://openalex.org/W2084258581","https://openalex.org/W2084371881","https://openalex.org/W2092871797","https://openalex.org/W2099173067","https://openalex.org/W2100000108","https://openalex.org/W2105491873","https://openalex.org/W2108624125","https://openalex.org/W2111601530","https://openalex.org/W2117231424","https://openalex.org/W2119413986","https://openalex.org/W2130934825","https://openalex.org/W2132720440","https://openalex.org/W2145937652","https://openalex.org/W2147146935","https://openalex.org/W2152769008","https://openalex.org/W2153039235","https://openalex.org/W2156490871","https://openalex.org/W2171662317"],"related_works":["https://openalex.org/W2311489861","https://openalex.org/W2002073678","https://openalex.org/W2327202793","https://openalex.org/W7097144035","https://openalex.org/W2086694435","https://openalex.org/W1506734023","https://openalex.org/W1974315061","https://openalex.org/W2292695038","https://openalex.org/W2570965717","https://openalex.org/W2092755901"],"abstract_inverted_index":{"The":[0,136],"mass,":[1],"density,":[2,45],"and":[3,18,33,35,48,94,159,225,234],"architecture":[4],"of":[5,25,146,191,214],"the":[6,81,84,99,106,125,132,141,147,171,176,183,187,192,209,215,231],"skeleton":[7,193],"are":[8],"adapted":[9],"to":[10,13,87,194,201,211,227,240],"enable":[11],"it":[12],"perform":[14],"its":[15,235],"mechanical,":[16],"protective,":[17],"metabolic":[19],"functions.":[20],"Osteoporosis":[21],"is":[22,129,144],"a":[23,67,102,116,160],"condition":[24],"lost":[26],"adaptation":[27],"characterized":[28],"by":[29,149],"decreased":[30,57],"skeletal":[31,37,58],"mass":[32,72],"density":[34],"increased":[36,43],"fragility.":[38],"Many":[39],"diseases":[40],"result":[41],"in":[42,105,115,124,131,167,198,219],"bone":[44,71,151,156,220],"including":[46],"osteopetrosis":[47],"Paget\u2019s":[49],"disease,":[50],"but":[51],"deformities":[52],"or":[53],"bony":[54],"lesions":[55],"with":[56,69,175],"integrity":[59],"usually":[60],"accompany":[61],"these":[62],"conditions.":[63],"We":[64],"have":[65,97,138],"identified":[66,98],"kindred":[68,165],"high":[70],"(HBM)":[73],"yet":[74],"normally":[75],"shaped":[76],"bones.":[77],"Linkage":[78],"analysis":[79,96],"localized":[80],"gene":[82,112,174],"for":[83,119,189,243],"HBM":[85,177,184],"trait":[86],"chromosome":[88],"11":[89],"(11q12\u201313).":[90],"Subsequent":[91],"physical":[92],"mapping":[93],"mutation":[95,104,185],"cause":[100],"as":[101],"point":[103],"LDL":[107],"receptor-related":[108],"protein":[109,128],"5":[110],"(Lrp5)":[111],"that":[113,140,182],"results":[114],"valine":[117],"substitution":[118],"glycine":[120],"at":[121],"position":[122],"171":[123],"protein.":[126],"This":[127,205],"important":[130,217],"Wnt":[133],"signaling":[134],"pathway.":[135],"authors":[137],"hypothesized":[139],"Lrp5":[142,173],"gene/pathway":[143],"part":[145],"mechanism":[148],"which":[150],"senses":[152],"mechanical":[153,195,203,228],"load.":[154],"Increased":[155],"strength,":[157],"HBM,":[158],"phenotype":[161],"resembling":[162],"our":[163],"human":[164,172],"develop":[166],"transgenic":[168],"mice":[169],"carrying":[170],"mutation.":[178],"Recent":[179],"data":[180],"indicate":[181],"reduces":[186],"threshold":[188],"response":[190],"load":[196],"resulting":[197],"an":[199],"overadaptation":[200],"normal":[202],"loads.":[204],"discovery":[206],"has":[207],"opened":[208],"door":[210],"understanding":[212],"one":[213],"most":[216],"paradigms":[218],"biology,":[221],"how":[222],"bones":[223],"respond":[224],"adapt":[226],"loading.":[229],"Understanding":[230],"mechanosensation":[232],"path-way":[233],"regulation":[236],"will":[237],"lead":[238],"us":[239],"new":[241],"treatments":[242],"osteoporosis.":[244]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
