{"id":"https://openalex.org/W1967615686","doi":"https://doi.org/10.1016/j.bcp.2013.03.003","title":"Analysis by liquid chromatography\u2013mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7\u03943-5/T93M mouse: A model of Smith\u2013Lemli\u2013Opitz syndrome","display_name":"Analysis by liquid chromatography\u2013mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7\u03943-5/T93M mouse: A model of Smith\u2013Lemli\u2013Opitz syndrome","publication_year":2013,"publication_date":"2013-03-13","ids":{"openalex":"https://openalex.org/W1967615686","doi":"https://doi.org/10.1016/j.bcp.2013.03.003","mag":"1967615686","pmid":"https://pubmed.ncbi.nlm.nih.gov/23500538","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4004445"},"language":"en","primary_location":{"id":"doi:10.1016/j.bcp.2013.03.003","doi":"https://doi.org/10.1016/j.bcp.2013.03.003","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.bcp.2013.03.003","pdf_url":null,"source":{"id":"https://openalex.org/S185534594","display_name":"Biochemical Pharmacology","issn_l":"0006-2952","issn":["0006-2952","1873-2968"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","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":"Biochemical Pharmacology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/articles/PMC4004445","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032044926","display_name":"Anna Meljon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39586589","display_name":"Swansea University","ror":"https://ror.org/053fq8t95","country_code":"GB","type":"education","lineage":["https://openalex.org/I39586589"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Anna Meljon","raw_affiliation_strings":["Institute of Mass Spectrometry, College of Medicine, Swansea University, Singleton Park, Swansea, SA2 8PP, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Mass Spectrometry, College of Medicine, Swansea University, Singleton Park, Swansea, SA2 8PP, UK","institution_ids":["https://openalex.org/I39586589"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109346762","display_name":"Gordon L. Watson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gordon L. Watson","raw_affiliation_strings":["Children's Hospital Oakland Research Institute, Oakland, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Oakland Research Institute, Oakland, CA, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007978186","display_name":"Yuqin Wang","orcid":"https://orcid.org/0000-0002-3063-3066","observed_orcids":["https://orcid.org/0000-0002-3063-3066"]},"institutions":[{"id":"https://openalex.org/I39586589","display_name":"Swansea University","ror":"https://ror.org/053fq8t95","country_code":"GB","type":"education","lineage":["https://openalex.org/I39586589"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Yuqin Wang","raw_affiliation_strings":["Institute of Mass Spectrometry, College of Medicine, Swansea University, Singleton Park, Swansea, SA2 8PP, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Mass Spectrometry, College of Medicine, Swansea University, Singleton Park, Swansea, SA2 8PP, UK","institution_ids":["https://openalex.org/I39586589"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113717187","display_name":"C.H.L. Shackleton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cedric H.L. Shackleton","raw_affiliation_strings":["Children's Hospital Oakland Research Institute, Oakland, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Oakland Research Institute, Oakland, CA, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030641085","display_name":"William James Griffiths","orcid":"https://orcid.org/0000-0002-4129-6616","observed_orcids":["https://orcid.org/0000-0002-4129-6616"]},"institutions":[{"id":"https://openalex.org/I39586589","display_name":"Swansea University","ror":"https://ror.org/053fq8t95","country_code":"GB","type":"education","lineage":["https://openalex.org/I39586589"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"William J. Griffiths","raw_affiliation_strings":["Institute of Mass Spectrometry, College of Medicine, Swansea University, Singleton Park, Swansea, SA2 8PP, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Mass Spectrometry, College of Medicine, Swansea University, Singleton Park, Swansea, SA2 8PP, UK","institution_ids":["https://openalex.org/I39586589"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5030641085"],"corresponding_institution_ids":["https://openalex.org/I39586589"],"apc_list":{"value":3590,"currency":"USD","value_usd":3590},"apc_paid":null,"fwci":1.1999,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.72821617,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"86","issue":"1","first_page":"43","last_page":"55"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.8955000042915344,"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"}},"topics":[{"id":"https://openalex.org/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.8955000042915344,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.07419999688863754,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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"}},{"id":"https://openalex.org/T13736","display_name":"Steroid Chemistry and Biochemistry","score":0.013199999928474426,"subfield":{"id":"https://openalex.org/subfields/1605","display_name":"Organic Chemistry"},"field":{"id":"https://openalex.org/fields/16","display_name":"Chemistry"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/smith-lemli-opitz-syndrome","display_name":"Smith-Lemli-Opitz syndrome","score":0.9909999966621399},{"id":"https://openalex.org/keywords/dhcr7","display_name":"DHCR7","score":0.9070000052452087},{"id":"https://openalex.org/keywords/oxysterols","display_name":"oxysterols","score":0.7799999713897705},{"id":"https://openalex.org/keywords/sterols","display_name":"sterols","score":0.859000027179718},{"id":"https://openalex.org/keywords/newborn-brain","display_name":"neonatal brain","score":0.7329999804496765},{"id":"https://openalex.org/keywords/desmosterol","display_name":"desmosterol","score":0.718999981880188},{"id":"https://openalex.org/keywords/24s-hydroxycholesterol","display_name":"24S-hydroxycholesterol","score":0.8970000147819519},{"id":"https://openalex.org/keywords/8-dehydrocholesterol","display_name":"8-dehydrocholesterol","score":0.9150000214576721},{"id":"https://openalex.org/keywords/cholesterol-metabolism","display_name":"cholesterol metabolism","score":0.6200000047683716},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.7419999837875366},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.6650000214576721}],"concepts":[{"id":"https://openalex.org/C2780716534","wikidata":"https://www.wikidata.org/wiki/Q998273","display_name":"Smith\u2013Lemli\u2013Opitz syndrome","level":5,"score":0.9955115914344788},{"id":"https://openalex.org/C2777085297","wikidata":"https://www.wikidata.org/wiki/Q3024529","display_name":"Desmosterol","level":4,"score":0.9401065707206726},{"id":"https://openalex.org/C2778111914","wikidata":"https://www.wikidata.org/wiki/Q7116159","display_name":"Oxysterol","level":3,"score":0.8816811442375183},{"id":"https://openalex.org/C2778718757","wikidata":"https://www.wikidata.org/wiki/Q143623","display_name":"Sterol","level":3,"score":0.838536262512207},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.6911000609397888},{"id":"https://openalex.org/C2910061293","wikidata":"https://www.wikidata.org/wiki/Q5168983","display_name":"Cholestanol","level":4,"score":0.6550614833831787},{"id":"https://openalex.org/C2777477808","wikidata":"https://www.wikidata.org/wiki/Q407595","display_name":"Metabolite","level":2,"score":0.6016812920570374},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.49441003799438477},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4705177843570709},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.4420973062515259},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4408634603023529},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.4292307496070862},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.41820818185806274},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.37751245498657227},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.34044086933135986},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17766216397285461},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.14894738793373108},{"id":"https://openalex.org/C104788683","wikidata":"https://www.wikidata.org/wiki/Q259292","display_name":"7-Dehydrocholesterol reductase","level":4,"score":0.08945372700691223},{"id":"https://openalex.org/C134651460","wikidata":"https://www.wikidata.org/wiki/Q3100717","display_name":"Reductase","level":3,"score":0.08208274841308594},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.07506048679351807}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000831","descriptor_name":"Animals, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002784","descriptor_name":"Cholesterol","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002853","descriptor_name":"Chromatography, Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003897","descriptor_name":"Desmosterol","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008817","descriptor_name":"Mice, Mutant Strains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010084","descriptor_name":"Oxidation-Reduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013261","descriptor_name":"Sterols","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D019082","descriptor_name":"Smith-Lemli-Opitz Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019082","descriptor_name":"Smith-Lemli-Opitz Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D021241","descriptor_name":"Spectrometry, Mass, Electrospray Ionization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044925","descriptor_name":"Oxidoreductases Acting on CH-CH Group Donors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055879","descriptor_name":"Gene Knock-In Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.bcp.2013.03.003","doi":"https://doi.org/10.1016/j.bcp.2013.03.003","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.bcp.2013.03.003","pdf_url":null,"source":{"id":"https://openalex.org/S185534594","display_name":"Biochemical Pharmacology","issn_l":"0006-2952","issn":["0006-2952","1873-2968"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","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":"Biochemical Pharmacology","raw_type":"journal-article"},{"id":"pmid:23500538","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23500538","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":"Biochemical pharmacology","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:2979977","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC4004445","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4004445","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4004445","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Biochem Pharmacol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2979977","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC4004445","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1382918474","display_name":"Pathogenesis/Treatment-Inherited Cholesterol Deficiency","funder_award_id":"R01HD053036","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G1919496136","display_name":null,"funder_award_id":"BB/C5157712","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G2238775406","display_name":"Lipid-protein interactions: Characterisation of the oxysterol mediated protein complexes by chemical proteomics","funder_award_id":"BB/H001018/1","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G3361429198","display_name":"An Integrated platform for Quantitative Sterolomics: From Oxysterols to Bile Acids and Steroids","funder_award_id":"BB/I001735/1","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G4534526679","display_name":null,"funder_award_id":"BBC5113561","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320334627","display_name":"Engineering and Physical Sciences Research Council","ror":"https://ror.org/0439y7842"},{"id":"https://openalex.org/F4320334629","display_name":"Biotechnology and Biological Sciences Research Council","ror":"https://ror.org/00cwqg982"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W1482432683","https://openalex.org/W1526759183","https://openalex.org/W1558070705","https://openalex.org/W1876824915","https://openalex.org/W1963931200","https://openalex.org/W1964463564","https://openalex.org/W1978957493","https://openalex.org/W1987712640","https://openalex.org/W1996514622","https://openalex.org/W2007960303","https://openalex.org/W2011240362","https://openalex.org/W2020988004","https://openalex.org/W2038396364","https://openalex.org/W2042429611","https://openalex.org/W2043983244","https://openalex.org/W2055784403","https://openalex.org/W2056709129","https://openalex.org/W2057091702","https://openalex.org/W2057365200","https://openalex.org/W2066248739","https://openalex.org/W2081722421","https://openalex.org/W2093658171","https://openalex.org/W2096471233","https://openalex.org/W2102150630","https://openalex.org/W2103992878","https://openalex.org/W2123699239","https://openalex.org/W2127031535","https://openalex.org/W2128812189","https://openalex.org/W2128990583","https://openalex.org/W2130125332","https://openalex.org/W2130196529","https://openalex.org/W2137465274","https://openalex.org/W2139867307","https://openalex.org/W2157598685","https://openalex.org/W2161362738","https://openalex.org/W2161487070"],"related_works":["https://openalex.org/W4387244103","https://openalex.org/W1963931200","https://openalex.org/W2922786270","https://openalex.org/W1975859944","https://openalex.org/W2002688249","https://openalex.org/W2128812189","https://openalex.org/W1876824915","https://openalex.org/W3106115414","https://openalex.org/W1992505229","https://openalex.org/W2171303446"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}