{"id":"https://openalex.org/W4410255672","doi":"https://doi.org/10.1016/j.bbadis.2025.167901","title":"Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway","display_name":"Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway","publication_year":2025,"publication_date":"2025-05-10","ids":{"openalex":"https://openalex.org/W4410255672","doi":"https://doi.org/10.1016/j.bbadis.2025.167901","pmid":"https://pubmed.ncbi.nlm.nih.gov/40355051"},"language":"en","primary_location":{"id":"doi:10.1016/j.bbadis.2025.167901","doi":"https://doi.org/10.1016/j.bbadis.2025.167901","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.bbadis.2025.167901","pdf_url":null,"source":{"id":"https://openalex.org/S4210173099","display_name":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","issn_l":"0925-4439","issn":["0925-4439","1879-260X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W4410255672"],"child_works_count":0,"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/A5100393638","display_name":"Yilin Chen","orcid":"https://orcid.org/0009-0000-9552-5990","observed_orcids":["https://orcid.org/0009-0000-9552-5990"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yilin Chen","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036911357","display_name":"Ying Bai","orcid":"https://orcid.org/0000-0001-7532-5932","observed_orcids":["https://orcid.org/0000-0001-7532-5932"]},"institutions":[{"id":"https://openalex.org/I4210156804","display_name":"First Affiliated Hospital of Zhengzhou University","ror":"https://ror.org/056swr059","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156804"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ying Bai","raw_affiliation_strings":["Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, PR China","institution_ids":["https://openalex.org/I4210156804"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Dan Deng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Dan Deng","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033895225","display_name":"Yiheng Liu","orcid":"https://orcid.org/0000-0002-7778-2368","observed_orcids":["https://orcid.org/0000-0002-7778-2368","https://orcid.org/0000-0002-2611-7149"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yiheng Liu","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087047119","display_name":"Lu He","orcid":"https://orcid.org/0000-0002-9733-3949","observed_orcids":["https://orcid.org/0000-0002-9733-3949"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Linyang He","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077614139","display_name":"Mengru Wang","orcid":"https://orcid.org/0000-0002-2543-4871","observed_orcids":["https://orcid.org/0000-0002-2543-4871","https://orcid.org/0009-0003-7444-6793","https://orcid.org/0009-0006-8930-4677","https://orcid.org/0000-0003-2017-5214"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Mengru Wang","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102342506","display_name":"Mengchen Zhou","orcid":"https://orcid.org/0009-0002-0529-4899","observed_orcids":["https://orcid.org/0009-0002-0529-4899"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Mengchen Zhou","raw_affiliation_strings":["National Demonstration Center for Experimental Basic Medical Education, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Demonstration Center for Experimental Basic Medical Education, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102868241","display_name":"Xiangyi Wang","orcid":"https://orcid.org/0000-0002-6257-1509","observed_orcids":["https://orcid.org/0000-0002-6257-1509"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiangyi Wang","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111060006","display_name":"Chenguang Yu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chenguang Yu","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088958866","display_name":"Yue Wang","orcid":"https://orcid.org/0000-0002-2574-6306","observed_orcids":["https://orcid.org/0000-0002-2574-6306"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yue Wang","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082084557","display_name":"Feifei Zhao","orcid":"https://orcid.org/0009-0006-7991-2345","observed_orcids":["https://orcid.org/0009-0006-7991-2345"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Feifei Zhao","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Chengying Hai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chengying Hai","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100408006","display_name":"Bo Wang","orcid":"https://orcid.org/0000-0001-7633-4435","observed_orcids":["https://orcid.org/0000-0001-7633-4435"]},"institutions":[{"id":"https://openalex.org/I4210129222","display_name":"Wuhan Union Hospital","ror":"https://ror.org/0371fqr87","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210129222"]},{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Bo Wang","raw_affiliation_strings":["Department of Pancreatic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pancreatic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China","institution_ids":["https://openalex.org/I4210129222","https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100738701","display_name":"Junyi Liu","orcid":"https://orcid.org/0000-0001-5702-3519","observed_orcids":["https://orcid.org/0000-0001-5702-3519"]},"institutions":[{"id":"https://openalex.org/I4405260259","display_name":"Albany Medical College","ror":"https://ror.org/03g66yt05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4405259726","https://openalex.org/I4405260259"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Junyi Liu","raw_affiliation_strings":["Albany Medical College, New York 12208, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Albany Medical College, New York 12208, USA","institution_ids":["https://openalex.org/I4405260259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101682412","display_name":"Xiangdong Kong","orcid":"https://orcid.org/0000-0001-5685-8055","observed_orcids":["https://orcid.org/0000-0001-5685-8055"]},"institutions":[{"id":"https://openalex.org/I4210156804","display_name":"First Affiliated Hospital of Zhengzhou University","ror":"https://ror.org/056swr059","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156804"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiangdong Kong","raw_affiliation_strings":["Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, PR China","institution_ids":["https://openalex.org/I4210156804"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Xin Tu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Xin Tu","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China. Electronic address: xtu@hust.edu.cn"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China. Electronic address: xtu@hust.edu.cn","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100423922","display_name":"Hui Li","orcid":"https://orcid.org/0000-0002-7516-7126","observed_orcids":["https://orcid.org/0000-0002-7516-7126"]},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Hui Li","raw_affiliation_strings":["Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China. Electronic address: huili0930@hust.edu.cn"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, PR China. Electronic address: huili0930@hust.edu.cn","institution_ids":["https://openalex.org/I47720641"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5100423922"],"corresponding_institution_ids":["https://openalex.org/I47720641"],"apc_list":{"value":4010,"currency":"USD","value_usd":4010},"apc_paid":null,"fwci":0.2157,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.33095343,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"1871","issue":"7","first_page":"167901","last_page":"167901"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10929","display_name":"Wnt/\u03b2-catenin signaling in development and cancer","score":0.38960000872612,"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/T10929","display_name":"Wnt/\u03b2-catenin signaling in development and cancer","score":0.38960000872612,"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/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.06920000165700912,"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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.05779999867081642,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/lamin-b-receptor","display_name":"lamin B receptor","score":0.9940000176429749},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.8849999904632568},{"id":"https://openalex.org/keywords/pelger-huet-anomaly","display_name":"Pelger-Huet anomaly","score":0.9430000185966492},{"id":"https://openalex.org/keywords/wnt-signaling","display_name":"Wnt signaling","score":0.7580000162124634},{"id":"https://openalex.org/keywords/wnt3a","display_name":"Wnt3a","score":0.972000002861023},{"id":"https://openalex.org/keywords/gsk-3beta","display_name":"GSK3\u03b2","score":0.8270000219345093},{"id":"https://openalex.org/keywords/fbxw7","display_name":"FBXW7","score":0.8970000147819519},{"id":"https://openalex.org/keywords/proteasomal-degradation","display_name":"proteasomal degradation","score":0.6259999871253967},{"id":"https://openalex.org/keywords/cholesterol-synthesis","display_name":"cholesterol biosynthesis","score":0.9459999799728394},{"id":"https://openalex.org/keywords/osteogenic-differentiation","display_name":"osteogenic differentiation","score":0.9850000143051147},{"id":"https://openalex.org/keywords/mc3t3-e1-cells","display_name":"MC3T3-E1 cells","score":0.8009999990463257},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8259999752044678}],"concepts":[{"id":"https://openalex.org/C137620995","wikidata":"https://www.wikidata.org/wiki/Q155769","display_name":"Wnt signaling pathway","level":3,"score":0.5989001989364624},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.5758025646209717},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5244510173797607},{"id":"https://openalex.org/C2778718757","wikidata":"https://www.wikidata.org/wiki/Q143623","display_name":"Sterol","level":3,"score":0.4907570779323578},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.45649755001068115},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4560413956642151},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.2342223823070526},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.20132914185523987},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.200327068567276},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.08360326290130615}],"mesh":[{"descriptor_ui":"D000071679","descriptor_name":"Glycogen Synthase Kinase 3 beta","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000071679","descriptor_name":"Glycogen Synthase Kinase 3 beta","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000073979","descriptor_name":"F-Box-WD Repeat-Containing Protein 7","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000073979","descriptor_name":"F-Box-WD Repeat-Containing Protein 7","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001848","descriptor_name":"Bone Diseases, Developmental","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001848","descriptor_name":"Bone Diseases, Developmental","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D001848","descriptor_name":"Bone Diseases, Developmental","qualifier_ui":"Q000473","qualifier_name":"pathology","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018160","descriptor_name":"Receptors, Cytoplasmic and Nuclear","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018160","descriptor_name":"Receptors, Cytoplasmic and Nuclear","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060449","descriptor_name":"Wnt Signaling Pathway","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.bbadis.2025.167901","doi":"https://doi.org/10.1016/j.bbadis.2025.167901","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.bbadis.2025.167901","pdf_url":null,"source":{"id":"https://openalex.org/S4210173099","display_name":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","issn_l":"0925-4439","issn":["0925-4439","1879-260X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","raw_type":"journal-article"},{"id":"pmid:40355051","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40355051","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":"Biochimica et biophysica acta. Molecular basis of disease","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2425362487","display_name":null,"funder_award_id":"81872116","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G3162845799","display_name":null,"funder_award_id":"25A310015","funder_id":"https://openalex.org/F4320335955","funder_display_name":"Key Scientific Research Project of Colleges and Universities in Henan Province"},{"id":"https://openalex.org/G3531261236","display_name":null,"funder_award_id":"82270444","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G5513903900","display_name":null,"funder_award_id":"23YB-26","funder_id":"https://openalex.org/F4320335955","funder_display_name":"Key Scientific Research Project of Colleges and Universities in Henan Province"},{"id":"https://openalex.org/G7791237402","display_name":null,"funder_award_id":"82273209","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320335955","display_name":"Key Scientific Research Project of Colleges and Universities in Henan Province","ror":null}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":70,"referenced_works":["https://openalex.org/W993469591","https://openalex.org/W1561446379","https://openalex.org/W1606671736","https://openalex.org/W1644227102","https://openalex.org/W1978992677","https://openalex.org/W1981284961","https://openalex.org/W1989371089","https://openalex.org/W1994737927","https://openalex.org/W2003149179","https://openalex.org/W2021004688","https://openalex.org/W2024256881","https://openalex.org/W2024897368","https://openalex.org/W2029419918","https://openalex.org/W2029456301","https://openalex.org/W2038163496","https://openalex.org/W2038763845","https://openalex.org/W2043250911","https://openalex.org/W2046340131","https://openalex.org/W2050029579","https://openalex.org/W2056752656","https://openalex.org/W2057871099","https://openalex.org/W2057901296","https://openalex.org/W2066078074","https://openalex.org/W2075054634","https://openalex.org/W2078963555","https://openalex.org/W2079003718","https://openalex.org/W2081704147","https://openalex.org/W2118692018","https://openalex.org/W2121674642","https://openalex.org/W2123699239","https://openalex.org/W2125204092","https://openalex.org/W2131554062","https://openalex.org/W2148236129","https://openalex.org/W2148302734","https://openalex.org/W2153159533","https://openalex.org/W2256016639","https://openalex.org/W2281528476","https://openalex.org/W2404468709","https://openalex.org/W2468811102","https://openalex.org/W2621361823","https://openalex.org/W2623887734","https://openalex.org/W2765197015","https://openalex.org/W2795373022","https://openalex.org/W2803820523","https://openalex.org/W2896352159","https://openalex.org/W2901198046","https://openalex.org/W2902346755","https://openalex.org/W2905146803","https://openalex.org/W2935134908","https://openalex.org/W2952648834","https://openalex.org/W3000615425","https://openalex.org/W3015428855","https://openalex.org/W3017247022","https://openalex.org/W3023472174","https://openalex.org/W3028561232","https://openalex.org/W3054225135","https://openalex.org/W3107055421","https://openalex.org/W3154733349","https://openalex.org/W3198821085","https://openalex.org/W4205498896","https://openalex.org/W4255678540","https://openalex.org/W4280550029","https://openalex.org/W4307793611","https://openalex.org/W4309342205","https://openalex.org/W4309593305","https://openalex.org/W4315797299","https://openalex.org/W4384819625","https://openalex.org/W4389526887","https://openalex.org/W6838519675","https://openalex.org/W7073579895"],"related_works":["https://openalex.org/W2901198046","https://openalex.org/W3054225135","https://openalex.org/W2905146803","https://openalex.org/W2526800978","https://openalex.org/W2131554062","https://openalex.org/W3017247022","https://openalex.org/W2153159533","https://openalex.org/W2003149179","https://openalex.org/W4315797299"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2025-05-11T00:00:00"}
