{"id":"https://openalex.org/W2556376397","doi":null,"title":"Steroid 5 a-reductase type-2 Gene Mutations in the Turkish Population","display_name":"Steroid 5 a-reductase type-2 Gene Mutations in the Turkish Population","publication_year":2022,"publication_date":"2022-03-01","ids":{"openalex":"https://openalex.org/W2556376397","mag":"2556376397"},"language":"en","primary_location":{"id":"pmh:oai:doaj.org/article:24e01522c98442e9944cf316a7466984","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/24e01522c98442e9944cf316a7466984","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Endocrinology Research and Practice, Vol 6, Iss 1 (2022)","raw_type":"article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doaj.org/article/24e01522c98442e9944cf316a7466984","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084372318","display_name":"Ahmet Sel\u00e7uk Can","orcid":"https://orcid.org/0000-0002-4074-7999","observed_orcids":["https://orcid.org/0000-0002-4074-7999"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Sel\u00e7uk Can","raw_affiliation_strings":["\u0130stanbul Science University, Faculty of Medicine, Section of Endocrinology and Metabolism, Department of Medicine, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u0130stanbul Science University, Faculty of Medicine, Section of Endocrinology and Metabolism, Department of Medicine, Istanbul, Turkey","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5084372318"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.00050483,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9345999956130981,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9345999956130981,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.010900000110268593,"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.0052999998442828655,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/5alpha-reductase-type-2","display_name":"5\u03b1-reductase type 2","score":0.843999981880188},{"id":"https://openalex.org/keywords/5-alpha-reductase-deficiency","display_name":"5-alpha-reductase deficiency","score":0.968999981880188},{"id":"https://openalex.org/keywords/congenital-adrenal-hyperplasia","display_name":"congenital adrenal hyperplasia","score":0.7879999876022339},{"id":"https://openalex.org/keywords/dihydrotestosterone","display_name":"dihydrotestosterone","score":0.8309999704360962},{"id":"https://openalex.org/keywords/turkish-population","display_name":"Turkish population","score":0.6779999732971191},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9259999990463257},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.9879999756813049},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7860000133514404},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8999999761581421},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7400000095367432}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.7140403389930725},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6669275760650635},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.5890006422996521},{"id":"https://openalex.org/C2779881493","wikidata":"https://www.wikidata.org/wiki/Q411054","display_name":"Dihydrotestosterone","level":4,"score":0.4980356693267822},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4966345429420471},{"id":"https://openalex.org/C2778817970","wikidata":"https://www.wikidata.org/wiki/Q7855390","display_name":"Turkish population","level":4,"score":0.49068939685821533},{"id":"https://openalex.org/C2778952551","wikidata":"https://www.wikidata.org/wiki/Q512313","display_name":"Androgen insensitivity syndrome","level":5,"score":0.47246694564819336},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4536731243133545},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4385022222995758},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.43586939573287964},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3123214840888977},{"id":"https://openalex.org/C2777911890","wikidata":"https://www.wikidata.org/wiki/Q62614","display_name":"Androgen","level":3,"score":0.3119676113128662},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.18460911512374878},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12958166003227234},{"id":"https://openalex.org/C61367390","wikidata":"https://www.wikidata.org/wiki/Q416601","display_name":"Androgen receptor","level":4,"score":0.07559588551521301},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.07340231537818909},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.0},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.0},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:doaj.org/article:24e01522c98442e9944cf316a7466984","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/24e01522c98442e9944cf316a7466984","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Endocrinology Research and Practice, Vol 6, Iss 1 (2022)","raw_type":"article"},{"id":"pmh:oai:doaj.org/article:7dd9154eb4d24511b24ba1c8f6390d18","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/7dd9154eb4d24511b24ba1c8f6390d18","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Endocrinology Research and Practice, Vol 6, Iss 1 (2022)","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:doaj.org/article:24e01522c98442e9944cf316a7466984","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/24e01522c98442e9944cf316a7466984","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Endocrinology Research and Practice, Vol 6, Iss 1 (2022)","raw_type":"article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1482831570","https://openalex.org/W1974392957","https://openalex.org/W1992103956","https://openalex.org/W2016438430","https://openalex.org/W2019648010","https://openalex.org/W2022065845","https://openalex.org/W2025289067","https://openalex.org/W2032380501","https://openalex.org/W2033492274","https://openalex.org/W2037268137","https://openalex.org/W2041624897","https://openalex.org/W2046373047","https://openalex.org/W2050704654","https://openalex.org/W2054183312","https://openalex.org/W2058387263","https://openalex.org/W2079363713","https://openalex.org/W2095970243","https://openalex.org/W2144032971","https://openalex.org/W2153349062","https://openalex.org/W2260808075","https://openalex.org/W2337921754"],"related_works":["https://openalex.org/W2415937599","https://openalex.org/W2893545445","https://openalex.org/W1969783242","https://openalex.org/W2152957657","https://openalex.org/W3035436861","https://openalex.org/W2021866053","https://openalex.org/W2467077483","https://openalex.org/W2050971597","https://openalex.org/W4415274725","https://openalex.org/W2279722241"],"abstract_inverted_index":{"ABSTRACT":[0],"5a-reductase":[1],"deficiency":[2,33],"results":[3],"from":[4,22,74],"reduced":[5],"conversion":[6],"of":[7,49,82,85,100],"testosterona":[8],"to":[9,30,113],"the":[10,23,35,50,58,98],"more":[11],"potent":[12],"androgen,":[13],"dihydrotestosterone.":[14],"Alterations":[15],"in":[16,34,78,87],"5a-reduc1ase":[17],"type-2":[18],"gene":[19],"are":[20,28],"responsible":[21,67],"syndrome.":[24],"Four":[25],"distinct":[26],"mutations":[27,52],"reported":[29],"cause":[31],"5ccreductase":[32],"Turkish":[36],"population:":[37],"A":[38,43,61],"M157,":[39],"G196S,":[40],"L55Q":[41],"and":[42,107],"P251":[44],"plus":[45],"frameshift.":[46],"Genetic":[47],"diversity":[48],"observed":[51],"disproves":[53],"a":[54,91],"founder":[55],"effect":[56],"for":[57,68],"whole":[59],"country.":[60],"common":[62],"ancestor":[63],"may":[64],"only":[65],"be":[66,111],"cases":[69],"that":[70],"live":[71],"or":[72],"migrate":[73],"isolated":[75],"geographic":[76],"areas":[77],"Turkey.":[79],"The":[80],"presence":[81],"high":[83],"rate":[84],"consanguinity":[86],"affected":[88,114],"subjects":[89],"mandates":[90],"public":[92],"education":[93],"campaign":[94],"against":[95],"intrafamily-marriages.":[96],"With":[97],"identification":[99],"etiological":[101],"molecular":[102],"genetic":[103,105],"defects,":[104],"counselling":[106],"prenatal":[108],"diagnosis":[109],"should":[110],"offered":[112],"individuals.":[115]},"counts_by_year":[{"year":2014,"cited_by_count":1}],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2016-11-30T00:00:00"}
