{"id":"https://openalex.org/W2806586345","doi":"https://doi.org/10.1038/s10038-018-0472-5","title":"A novel frameshift deletion in PLS3 causing severe primary osteoporosis","display_name":"A novel frameshift deletion in PLS3 causing severe primary osteoporosis","publication_year":2018,"publication_date":"2018-06-08","ids":{"openalex":"https://openalex.org/W2806586345","doi":"https://doi.org/10.1038/s10038-018-0472-5","mag":"2806586345","pmid":"https://pubmed.ncbi.nlm.nih.gov/29884797"},"language":"en","primary_location":{"id":"doi:10.1038/s10038-018-0472-5","doi":"https://doi.org/10.1038/s10038-018-0472-5","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-018-0472-5","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","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/A5087908176","display_name":"Alice Costantini","orcid":"https://orcid.org/0000-0003-1408-9272","observed_orcids":["https://orcid.org/0000-0003-1408-9272"]},"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":true,"raw_author_name":"Alice Costantini","raw_affiliation_strings":["Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. alice.costantini@ki.se","Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden"],"raw_orcid":"https://orcid.org/0000-0003-1408-9272","affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. alice.costantini@ki.se","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111463817","display_name":"Panagiotis Krallis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Panagiotis \u039d. Krallis","raw_affiliation_strings":["Department of Orthopaedics, \"Aghia Sophia\" Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedics, \"Aghia Sophia\" Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085911002","display_name":"Anders J. K\u00e4mpe","orcid":"https://orcid.org/0000-0002-1829-3855","observed_orcids":["https://orcid.org/0000-0002-1829-3855"]},"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":"Anders K\u00e4mpe","raw_affiliation_strings":["Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012387898","display_name":"Emmanouil M. Karavitakis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210131513","display_name":"Chania General Hospital \u201dSt. George\u201d","ror":"https://ror.org/03tte1d07","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210131513"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Emmanouil M. Karavitakis","raw_affiliation_strings":["Neonatal Special Care Unit General Hospital of Chania, Crete, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Special Care Unit General Hospital of Chania, Crete, Greece","institution_ids":["https://openalex.org/I4210131513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011925993","display_name":"Fulya Taylan","orcid":"https://orcid.org/0000-0002-2907-0235","observed_orcids":["https://orcid.org/0000-0002-2907-0235"]},"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":"Fulya Taylan","raw_affiliation_strings":["Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden"],"raw_orcid":"https://orcid.org/0000-0002-2907-0235","affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064764888","display_name":"Outi M\u00e4kitie","orcid":"https://orcid.org/0000-0002-4547-001X","observed_orcids":["https://orcid.org/0000-0002-4547-001X"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I4210090554","display_name":"Helsinki Children's Hospital","ror":"https://ror.org/00dqfzf20","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210090554","https://openalex.org/I4210166427"]}],"countries":["FI","SE"],"is_corresponding":false,"raw_author_name":"Outi M\u00e4kitie","raw_affiliation_strings":["Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland","Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden","Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden","Folkh\u00e4lsan Institute of Genetics and University of Helsinki, Helsinki, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I2800394112","https://openalex.org/I4210090554"]},{"raw_affiliation_string":"Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Folkh\u00e4lsan Institute of Genetics and University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024211127","display_name":"Artemis E. Doulgeraki","orcid":"https://orcid.org/0000-0003-0562-6670","observed_orcids":["https://orcid.org/0000-0003-0562-6670"]},"institutions":[{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]},{"id":"https://openalex.org/I4210136825","display_name":"Institute of Child Health","ror":"https://ror.org/04ghtpd15","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210136825"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Artemis Doulgeraki","raw_affiliation_strings":["Department of Bone and Mineral Metabolism, Institute of Child Health, \"Aghia Sophia\" Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Bone and Mineral Metabolism, Institute of Child Health, \"Aghia Sophia\" Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313","https://openalex.org/I4210136825"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5087908176"],"corresponding_institution_ids":["https://openalex.org/I28166907"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":1.7035,"has_fulltext":false,"cited_by_count":27,"citation_normalized_percentile":{"value":0.84118364,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"63","issue":"8","first_page":"923","last_page":"926"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9286999702453613,"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"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9286999702453613,"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/T10071","display_name":"Bone health and osteoporosis research","score":0.05570000037550926,"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.005400000140070915,"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/pls3","display_name":"PLS3","score":0.9879999756813049},{"id":"https://openalex.org/keywords/primary-osteoporosis","display_name":"primary osteoporosis","score":0.9440000057220459},{"id":"https://openalex.org/keywords/frameshift-deletion","display_name":"frameshift deletion","score":0.9850000143051147},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8379999995231628},{"id":"https://openalex.org/keywords/osteogenesis-imperfecta","display_name":"osteogenesis imperfecta","score":0.8159999847412109},{"id":"https://openalex.org/keywords/vertebral-compression-fractures","display_name":"vertebral compression fractures","score":0.7879999876022339},{"id":"https://openalex.org/keywords/osteopenia","display_name":"osteopenia","score":0.906000018119812},{"id":"https://openalex.org/keywords/x-linked-inheritance","display_name":"X-linked inheritance","score":0.5339999794960022},{"id":"https://openalex.org/keywords/type-i-collagen","display_name":"type I collagen","score":0.7200000286102295},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.44999998807907104},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6439999938011169}],"concepts":[{"id":"https://openalex.org/C2777668750","wikidata":"https://www.wikidata.org/wiki/Q749409","display_name":"Osteogenesis imperfecta","level":2,"score":0.8442195653915405},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8331012725830078},{"id":"https://openalex.org/C2776541429","wikidata":"https://www.wikidata.org/wiki/Q165328","display_name":"Osteoporosis","level":2,"score":0.6677509546279907},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.5647645592689514},{"id":"https://openalex.org/C2776886416","wikidata":"https://www.wikidata.org/wiki/Q4941567","display_name":"Bone mineral","level":3,"score":0.5240911841392517},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.4690195918083191},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4529409408569336},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37352341413497925},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.32188016176223755},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.31917694211006165},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2531229257583618},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2424817979335785},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2422800362110138},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16857191920280457},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.12636029720306396}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010024","descriptor_name":"Osteoporosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013904","descriptor_name":"Thoracic Vertebrae","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D013904","descriptor_name":"Thoracic Vertebrae","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D016103","descriptor_name":"Spinal Fractures","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D016103","descriptor_name":"Spinal Fractures","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/s10038-018-0472-5","doi":"https://doi.org/10.1038/s10038-018-0472-5","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-018-0472-5","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:29884797","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29884797","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":"Journal of human genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G8830706565","display_name":null,"funder_award_id":"NNF17OC0027226","funder_id":"https://openalex.org/F4320325957","funder_display_name":"Novo Nordisk Fonden"}],"funders":[{"id":"https://openalex.org/F4320316024","display_name":"Folkh\u00e4lsanin Tutkimuss\u00e4\u00e4ti\u00f6","ror":"https://ror.org/01xjctg43"},{"id":"https://openalex.org/F4320321108","display_name":"Academy of Finland","ror":"https://ror.org/05k73zm37"},{"id":"https://openalex.org/F4320322581","display_name":"Vetenskapsr\u00e5det","ror":"https://ror.org/03zttf063"},{"id":"https://openalex.org/F4320322905","display_name":"Samfundet Folkh\u00e4lsan","ror":"https://ror.org/05xznzw56"},{"id":"https://openalex.org/F4320323760","display_name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","ror":"https://ror.org/00ckakm23"},{"id":"https://openalex.org/F4320325957","display_name":"Novo Nordisk Fonden","ror":"https://ror.org/04txyc737"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1860681410","https://openalex.org/W1988037421","https://openalex.org/W1993495106","https://openalex.org/W2051978340","https://openalex.org/W2084734188","https://openalex.org/W2131425336","https://openalex.org/W2138067152","https://openalex.org/W2165400076","https://openalex.org/W2280645909","https://openalex.org/W2505711688","https://openalex.org/W2508815883","https://openalex.org/W2625349288","https://openalex.org/W2625614564","https://openalex.org/W2699514420","https://openalex.org/W2737959888","https://openalex.org/W2742506914"],"related_works":["https://openalex.org/W2742506914","https://openalex.org/W2625349288","https://openalex.org/W2131425336","https://openalex.org/W4413906261","https://openalex.org/W3099895690","https://openalex.org/W4389286805","https://openalex.org/W4283465114","https://openalex.org/W2737959888","https://openalex.org/W4210327161","https://openalex.org/W4387380335"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2018-06-13T00:00:00"}