{"id":"https://openalex.org/W7039236253","doi":null,"title":"L'estudi gen\u00e8tic de la pigmentaci\u00f3 de l'iris","display_name":"L'estudi gen\u00e8tic de la pigmentaci\u00f3 de l'iris","publication_year":2023,"publication_date":"2023-06-08","ids":{"openalex":"https://openalex.org/W7039236253"},"language":"ca","primary_location":{"id":"pmh:oai:upcommons.upc.edu:2117/394073","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/394073","pdf_url":"https://upcommons.upc.edu/bitstreams/b56efbbe-2122-4ed7-bd81-d00687c5610d/download","source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/bachelorThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://upcommons.upc.edu/bitstreams/b56efbbe-2122-4ed7-bd81-d00687c5610d/download","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Rafanell Hurtado, J\u00falia","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Rafanell Hurtado, J\u00falia","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"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":true,"primary_topic":{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9940999746322632,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11144","display_name":"melanin and skin pigmentation","score":0.9940999746322632,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0015999999595806003,"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/iris-pigmentation","display_name":"iris pigmentation","score":0.9509999752044678},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9800000190734863},{"id":"https://openalex.org/keywords/melanin","display_name":"melanin","score":0.9200000166893005},{"id":"https://openalex.org/keywords/eumelanin","display_name":"eumelanin","score":0.9980000257492065},{"id":"https://openalex.org/keywords/pheomelanin","display_name":"pheomelanin","score":0.9779999852180481},{"id":"https://openalex.org/keywords/iris-stroma","display_name":"iris stroma","score":0.6230000257492065},{"id":"https://openalex.org/keywords/collagen-fibers","display_name":"collagen fibers","score":0.7129999995231628}],"concepts":[{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.6011999845504761},{"id":"https://openalex.org/C2779503344","wikidata":"https://www.wikidata.org/wiki/Q5973514","display_name":"IRIS (biosensor)","level":3,"score":0.4291999936103821},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.37959998846054077},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.33730000257492065},{"id":"https://openalex.org/C58640448","wikidata":"https://www.wikidata.org/wiki/Q42515","display_name":"Cartography","level":1,"score":0.16290000081062317},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.1454000025987625},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.1273999959230423},{"id":"https://openalex.org/C2777179996","wikidata":"https://www.wikidata.org/wiki/Q911222","display_name":"Mistake","level":2,"score":0.1152999997138977},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.10840000212192535},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.10670000314712524}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:upcommons.upc.edu:2117/394073","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/394073","pdf_url":"https://upcommons.upc.edu/bitstreams/b56efbbe-2122-4ed7-bd81-d00687c5610d/download","source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/bachelorThesis"}],"best_oa_location":{"id":"pmh:oai:upcommons.upc.edu:2117/394073","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/394073","pdf_url":"https://upcommons.upc.edu/bitstreams/b56efbbe-2122-4ed7-bd81-d00687c5610d/download","source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/bachelorThesis"},"sustainable_development_goals":[],"study_designs":[{"id":"https://openalex.org/study-designs/systematic-review","display_name":"Systematic Review"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7039236253.pdf","grobid_xml":"https://content.openalex.org/works/W7039236253.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W1503853200","https://openalex.org/W1978350381","https://openalex.org/W2037117670","https://openalex.org/W2103578460","https://openalex.org/W2152584268","https://openalex.org/W2166160556","https://openalex.org/W2334536046","https://openalex.org/W2414410915","https://openalex.org/W2471321097","https://openalex.org/W2684381243","https://openalex.org/W2993654793","https://openalex.org/W3030730362","https://openalex.org/W3164793303","https://openalex.org/W4205247244","https://openalex.org/W4324381732"],"related_works":["https://openalex.org/W2989642672","https://openalex.org/W2998594290","https://openalex.org/W4301686023","https://openalex.org/W1963504868","https://openalex.org/W3030730362","https://openalex.org/W2152584268","https://openalex.org/W2100217855","https://openalex.org/W7006606537","https://openalex.org/W4256149649","https://openalex.org/W7064523613"],"abstract_inverted_index":{"OBJECTIU:":[0],"Fer":[1],"una":[2,74],"revisi\u00f3":[3,93],"de":[4,21,26,28,36,54,65,69,82,84,90,98,104,107,112,142,174,184,193,196,201,209,211,222,225,230,244,254,266],"les":[5,263],"evid\u00e8ncies":[6],"cient\u00edfiques":[7],"que":[8,16,115,144,217],"hi":[9],"ha":[10],"actualment":[11],"sobre":[12,101],"els":[13,51,145,150,166],"factors":[14,259],"gen\u00e8tics":[15],"intervenen":[17,32,116],"en":[18,33,117,241,262],"la":[19,34,48,60,70,80,96,102,105,118,159,194,197,203,223,228,231,242,252],"pigmentaci\u00f3":[20,35,106,119,243],"l\u2019iris.":[22,108,267],"Explicant":[23],"quins":[24],"tipus":[25,250],"polimorfismes":[27],"nucle\u00f2tid":[29],"simple":[30],"(SNPs)":[31],"l\u2019iris,":[37,202],"quin":[38],"\u00e9s":[39,125,246],"el":[40,88,122,199,206,249],"mecanisme":[41],"pel":[42],"qual":[43],"un":[44],"sol":[45],"pigment":[46],"com":[47,57],"melanina":[49,143,185,255],"determina":[50],"diferents":[52,264],"colors":[53],"l\u2019iris":[55,66,245],"i":[56,63,86,131,162,165,179,191,214,234,248,251],"es":[58,218],"produeix":[59],"coloraci\u00f3":[61],"grisa":[62],"ambre":[64,180],"a":[67,128,158,163,172,220,227,235],"partir":[68,221],"melanina.":[71],"M\u00c8TODE:":[72],"Realitzar":[73],"recerca":[75],"bibliogr\u00e0fica":[76],"d\u2019articles":[77],"cient\u00edfics":[78],"utilitzant":[79],"base":[81],"dades":[83],"PubMed,":[85],"seguint":[87],"model":[89],"Cochrane":[91],"d\u2019una":[92],"sistem\u00e0tica.":[94],"Amb":[95],"finalitat":[97],"trobar":[99],"informaci\u00f3":[100],"gen\u00e8tica":[103],"RESULTATS:":[109],"Dels":[110],"m\u00e9s":[111,123,140,155,169,189,239,260],"300":[113],"SNPs":[114],"dels":[120,215,258],"iris,":[121],"important":[124],"rs12913832,":[126,247],"situat":[127],"l'intr\u00f3":[129],"86":[130],"dins":[132],"del":[133],"locus":[134],"OCA2-HERC2.":[135],"Els":[136,176],"iris":[137,146,151,167,177,188],"foscos":[138,152,190],"presenten":[139],"quantitat":[141,183,253],"clars.":[147],"A":[148],"m\u00e9s,":[149],"tamb\u00e9":[153],"tenen":[154,181],"eumelanina":[156],"situada":[157],"capa":[160,229],"anterior":[161,233],"l\u2019estroma":[164],"clars":[168],"feomelanina":[170],"localitzada":[171],"l'estroma":[173],"l'iris.":[175],"grisos":[178],"menys":[182],"respecte":[186],"als":[187],"depenen":[192],"mida":[195],"melanina,":[198],"gruix":[200],"densitat":[204],"d\u2019aquest,":[205],"grau":[207],"d\u2019acumulaci\u00f3":[208],"fibres":[210],"col\u00b7lagen":[212],"blanc":[213],"pegats":[216],"formen":[219],"p\u00e8rdua":[224],"teixit":[226],"vora":[232],"l\u2019estroma.":[236],"CONCLUSIONS:":[237],"L\u2019SNP":[238],"rellevant":[240],"s\u00f3n":[256],"dos":[257],"determinants":[261],"coloracions":[265]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2025-10-10T00:00:00"}