{"id":"https://openalex.org/W4236502061","doi":"https://doi.org/10.3410/f.9250956.9854054","title":"Faculty Opinions recommendation of Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.","display_name":"Faculty Opinions recommendation of Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.","publication_year":2011,"publication_date":"2011-03-22","ids":{"openalex":"https://openalex.org/W4236502061","doi":"https://doi.org/10.3410/f.9250956.9854054"},"language":"en","primary_location":{"id":"doi:10.3410/f.9250956.9854054","doi":"https://doi.org/10.3410/f.9250956.9854054","is_oa":false,"landing_page_url":"https://doi.org/10.3410/f.9250956.9854054","pdf_url":null,"source":{"id":"https://openalex.org/S4363604054","display_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","raw_type":"dataset"},"volume":null,"type":"peer-review","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078194505","display_name":"Keith Adam Choate","orcid":"https://orcid.org/0000-0003-1010-6354","observed_orcids":["https://orcid.org/0000-0003-1010-6354","https://orcid.org/0000-0002-5857-7772"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Keith Choate","raw_affiliation_strings":["Department of Dermatology, Yale School of Medicine, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Yale School of Medicine, USA","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5078194505"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.9272000193595886,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.9272000193595886,"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/T10469","display_name":"Psoriasis: Treatment and Pathogenesis","score":0.041999999433755875,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.011599999852478504,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/psoriasiform-dermatitis","display_name":"psoriasiform dermatitis","score":0.9139999747276306},{"id":"https://openalex.org/keywords/microcephaly","display_name":"microcephaly","score":1.0},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9940000176429749},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.6060000061988831},{"id":"https://openalex.org/keywords/sphingolipid-metabolism","display_name":"sphingolipid metabolism","score":0.6159999966621399}],"concepts":[{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.6919792890548706},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5550395846366882},{"id":"https://openalex.org/C2778718757","wikidata":"https://www.wikidata.org/wiki/Q143623","display_name":"Sterol","level":3,"score":0.5033733248710632},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4550098776817322},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.38972049951553345},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3724236488342285},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3707868158817291},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.2473500370979309},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.1129223108291626}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3410/f.9250956.9854054","doi":"https://doi.org/10.3410/f.9250956.9854054","is_oa":false,"landing_page_url":"https://doi.org/10.3410/f.9250956.9854054","pdf_url":null,"source":{"id":"https://openalex.org/S4363604054","display_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","raw_type":"dataset"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3200564735","https://openalex.org/W2890384773","https://openalex.org/W2065809367","https://openalex.org/W6891597532","https://openalex.org/W2412706654","https://openalex.org/W7015712470","https://openalex.org/W2064410403","https://openalex.org/W2412372755","https://openalex.org/W3156364708","https://openalex.org/W2810274512"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-17T09:40:24.721904","created_date":"2022-05-12T00:00:00"}