{"id":"https://openalex.org/W1963931200","doi":"https://doi.org/10.1016/j.steroids.2007.07.002","title":"Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith\u2013Lemli\u2013Opitz syndrome)","display_name":"Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith\u2013Lemli\u2013Opitz syndrome)","publication_year":2007,"publication_date":"2007-07-14","ids":{"openalex":"https://openalex.org/W1963931200","doi":"https://doi.org/10.1016/j.steroids.2007.07.002","mag":"1963931200","pmid":"https://pubmed.ncbi.nlm.nih.gov/17714750","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2911235"},"language":"en","primary_location":{"id":"doi:10.1016/j.steroids.2007.07.002","doi":"https://doi.org/10.1016/j.steroids.2007.07.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.steroids.2007.07.002","pdf_url":null,"source":{"id":"https://openalex.org/S70286497","display_name":"Steroids","issn_l":"0039-128X","issn":["0039-128X","1878-5867"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Steroids","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2911235","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089686510","display_name":"Josep Marcos","orcid":"https://orcid.org/0000-0002-3624-108X","observed_orcids":["https://orcid.org/0000-0002-3624-108X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Josep Marcos","raw_affiliation_strings":["Children's Hospital Oakland Research Institute, Oakland, CA 94609-1673, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Oakland Research Institute, Oakland, CA 94609-1673, USA","institution_ids":[]}]},{"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":"middle","author":{"id":"https://openalex.org/A5086445859","display_name":"Madhavee Buddhikot","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Madhavee M. Buddhikot","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/A5043346952","display_name":"Forbes D. Porter","orcid":"https://orcid.org/0000-0001-9397-0046","observed_orcids":["https://orcid.org/0000-0001-9397-0046"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Forbes D. Porter","raw_affiliation_strings":["Heritable Disorders Branch, NICHD, NIH, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heritable Disorders Branch, NICHD, NIH, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109346762","display_name":"Gordon L. Watson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"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":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5109346762"],"corresponding_institution_ids":[],"apc_list":{"value":3760,"currency":"USD","value_usd":3760},"apc_paid":null,"fwci":0.9263,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.6470854,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"72","issue":"11-12","first_page":"802","last_page":"808"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.5551999807357788,"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":0.5551999807357788,"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":0.4108999967575073,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.015799999237060547,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/smith-lemli-opitz-syndrome","display_name":"Smith-Lemli-Opitz syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/dhcr7","display_name":"DHCR7","score":0.972000002861023},{"id":"https://openalex.org/keywords/cholesterol-synthesis","display_name":"cholesterol biosynthesis","score":0.8859999775886536},{"id":"https://openalex.org/keywords/7-dehydrocholesterol","display_name":"7-dehydrocholesterol","score":0.9210000038146973},{"id":"https://openalex.org/keywords/postnatal-development","display_name":"postnatal development","score":0.9340000152587891},{"id":"https://openalex.org/keywords/brain-cholesterol","display_name":"brain cholesterol","score":0.9549999833106995},{"id":"https://openalex.org/keywords/hepatic-cholesterol","display_name":"liver cholesterol","score":0.9779999852180481},{"id":"https://openalex.org/keywords/dysmorphia","display_name":"dysmorphia","score":0.5659999847412109},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7710000276565552},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.3919999897480011}],"concepts":[{"id":"https://openalex.org/C2780716534","wikidata":"https://www.wikidata.org/wiki/Q998273","display_name":"Smith\u2013Lemli\u2013Opitz syndrome","level":5,"score":0.9935573935508728},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.7388599514961243},{"id":"https://openalex.org/C134651460","wikidata":"https://www.wikidata.org/wiki/Q3100717","display_name":"Reductase","level":3,"score":0.6995513439178467},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6772412061691284},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6655701994895935},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.6246350407600403},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4942372143268585},{"id":"https://openalex.org/C2778978578","wikidata":"https://www.wikidata.org/wiki/Q10295810","display_name":"Hypocholesterolemia","level":3,"score":0.4643334150314331},{"id":"https://openalex.org/C2780655333","wikidata":"https://www.wikidata.org/wiki/Q333203","display_name":"Weaning","level":2,"score":0.4471361041069031},{"id":"https://openalex.org/C89673097","wikidata":"https://www.wikidata.org/wiki/Q14907373","display_name":"Cholesterol 7 alpha-hydroxylase","level":3,"score":0.4362279772758484},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.3109074532985687},{"id":"https://openalex.org/C104788683","wikidata":"https://www.wikidata.org/wiki/Q259292","display_name":"7-Dehydrocholesterol reductase","level":4,"score":0.3022374212741852},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2905403673648834},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.1652543544769287}],"mesh":[{"descriptor_ui":"D000375","descriptor_name":"Aging","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"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":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002784","descriptor_name":"Cholesterol","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":true},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D014020","descriptor_name":"Tissue Extracts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019082","descriptor_name":"Smith-Lemli-Opitz Syndrome","qualifier_ui":"Q000201","qualifier_name":"enzymology","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":"D044925","descriptor_name":"Oxidoreductases Acting on CH-CH Group Donors","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.steroids.2007.07.002","doi":"https://doi.org/10.1016/j.steroids.2007.07.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.steroids.2007.07.002","pdf_url":null,"source":{"id":"https://openalex.org/S70286497","display_name":"Steroids","issn_l":"0039-128X","issn":["0039-128X","1878-5867"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Steroids","raw_type":"journal-article"},{"id":"pmid:17714750","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17714750","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":"Steroids","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2911235","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2911235","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":"Steroids","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2911235","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2911235","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":"Steroids","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"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/G4733685727","display_name":"Neurosteroids and Smith-Lemli-Optiz Syndrome","funder_award_id":"R03HD045302","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G6429746723","display_name":"Gas chromatograph-mass spectrometer with EI and CI","funder_award_id":"S10RR017854","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W1937707373","https://openalex.org/W1970195398","https://openalex.org/W1973110818","https://openalex.org/W1980611655","https://openalex.org/W1989716225","https://openalex.org/W2003627479","https://openalex.org/W2003742510","https://openalex.org/W2007960303","https://openalex.org/W2013654109","https://openalex.org/W2017700612","https://openalex.org/W2023826219","https://openalex.org/W2023982091","https://openalex.org/W2034418514","https://openalex.org/W2038236181","https://openalex.org/W2038396364","https://openalex.org/W2046682094","https://openalex.org/W2057091702","https://openalex.org/W2059172428","https://openalex.org/W2074594698","https://openalex.org/W2077495051","https://openalex.org/W2082788920","https://openalex.org/W2084460940","https://openalex.org/W2094813413","https://openalex.org/W2096730084","https://openalex.org/W2102150630","https://openalex.org/W2103992878","https://openalex.org/W2106009748","https://openalex.org/W2115420718","https://openalex.org/W2116221021","https://openalex.org/W2137465274","https://openalex.org/W2139867307","https://openalex.org/W2143076431","https://openalex.org/W2164739854","https://openalex.org/W4254090309"],"related_works":["https://openalex.org/W3106115414","https://openalex.org/W1980456414","https://openalex.org/W2085534315","https://openalex.org/W2103992878","https://openalex.org/W2131808281","https://openalex.org/W4299715860","https://openalex.org/W3045398931","https://openalex.org/W3044773734","https://openalex.org/W1941757869","https://openalex.org/W2108506218"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":4},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}