{"id":"https://openalex.org/W1578460852","doi":null,"title":"Molecular genetics of Usher syndrome -inherited deafness and blindness","display_name":"Molecular genetics of Usher syndrome -inherited deafness and blindness","publication_year":2011,"publication_date":"2011-11-11","ids":{"openalex":"https://openalex.org/W1578460852","mag":"1578460852"},"language":"en","primary_location":{"id":"pmh:oai:helda.helsinki.fi:10138/28028","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/28028","pdf_url":"http://hdl.handle.net/10138/28028","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doctoralThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10138/28028","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050959441","display_name":"Hanna V\u00e4stinsalo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Hanna V\u00e4stinsalo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5050959441"],"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":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9541000127792358,"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"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9541000127792358,"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"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.009700000286102295,"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.008200000040233135,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/usher-syndrome","display_name":"Usher syndrome","score":0.9490000009536743},{"id":"https://openalex.org/keywords/myosin-viia","display_name":"MYO7A","score":0.8519999980926514},{"id":"https://openalex.org/keywords/ush2a","display_name":"USH2A","score":0.8700000047683716},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7770000100135803},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.7979999780654907},{"id":"https://openalex.org/keywords/finnish-patients","display_name":"Finnish patients","score":0.734000027179718},{"id":"https://openalex.org/keywords/splice-variants","display_name":"splice variants","score":0.921999990940094},{"id":"https://openalex.org/keywords/promoter-analysis","display_name":"promoter analysis","score":0.6859999895095825},{"id":"https://openalex.org/keywords/protein-stability","display_name":"protein stability","score":0.5490000247955322},{"id":"https://openalex.org/keywords/er-retention","display_name":"endoplasmic reticulum retention","score":0.8980000019073486},{"id":"https://openalex.org/keywords/protein-dimerization","display_name":"protein dimerization","score":0.7699999809265137}],"concepts":[{"id":"https://openalex.org/C2780274975","wikidata":"https://www.wikidata.org/wiki/Q917399","display_name":"Usher syndrome","level":4,"score":0.7474390268325806},{"id":"https://openalex.org/C2780929884","wikidata":"https://www.wikidata.org/wiki/Q737460","display_name":"Blindness","level":2,"score":0.6948379874229431},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5850446224212646},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4300031363964081},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3428134322166443},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.32183706760406494},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.29353639483451843},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13904151320457458}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:helda.helsinki.fi:10138/28028","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/28028","pdf_url":"http://hdl.handle.net/10138/28028","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doctoralThesis"},{"id":"mag:1578460852","doi":null,"is_oa":false,"landing_page_url":"https://helda.helsinki.fi/bitstream/handle/10138/28028/molecula.pdf;sequence=1","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:helda.helsinki.fi:10138/28028","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/28028","pdf_url":"http://hdl.handle.net/10138/28028","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doctoralThesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.788100004196167,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320312393","display_name":"Hope For Vision","ror":"https://ror.org/02yqjk243"},{"id":"https://openalex.org/F4320323423","display_name":"Oskar \u00d6flunds Stiftelse","ror":"https://ror.org/0446gjc92"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1578460852.pdf","grobid_xml":"https://content.openalex.org/works/W1578460852.grobid-xml"},"referenced_works_count":150,"referenced_works":["https://openalex.org/W130779600","https://openalex.org/W143492369","https://openalex.org/W193528990","https://openalex.org/W1146213348","https://openalex.org/W1156060001","https://openalex.org/W1480677822","https://openalex.org/W1489420155","https://openalex.org/W1490352649","https://openalex.org/W1495821131","https://openalex.org/W1514414732","https://openalex.org/W1544777143","https://openalex.org/W1556198965","https://openalex.org/W1565551208","https://openalex.org/W1574620656","https://openalex.org/W1578230975","https://openalex.org/W1598751932","https://openalex.org/W1667680871","https://openalex.org/W1773173368","https://openalex.org/W1786905367","https://openalex.org/W1868187718","https://openalex.org/W1884352355","https://openalex.org/W1908953807","https://openalex.org/W1916825548","https://openalex.org/W1965214236","https://openalex.org/W1969144276","https://openalex.org/W1971024110","https://openalex.org/W1972884804","https://openalex.org/W1973662578","https://openalex.org/W1974264340","https://openalex.org/W1976644659","https://openalex.org/W1977808261","https://openalex.org/W1979325114","https://openalex.org/W1979441792","https://openalex.org/W1979642960","https://openalex.org/W1983689913","https://openalex.org/W1984003568","https://openalex.org/W1984225507","https://openalex.org/W1984425391","https://openalex.org/W1987376344","https://openalex.org/W1990372833","https://openalex.org/W1995912317","https://openalex.org/W2000691257","https://openalex.org/W2001603084","https://openalex.org/W2004059712","https://openalex.org/W2006543023","https://openalex.org/W2007294586","https://openalex.org/W2007348919","https://openalex.org/W2009480638","https://openalex.org/W2011920499","https://openalex.org/W2014390617","https://openalex.org/W2014641604","https://openalex.org/W2015373896","https://openalex.org/W2016799666","https://openalex.org/W2017487928","https://openalex.org/W2017685224","https://openalex.org/W2024040827","https://openalex.org/W2031814390","https://openalex.org/W2032368486","https://openalex.org/W2033427698","https://openalex.org/W2034223507","https://openalex.org/W2034972401","https://openalex.org/W2037956462","https://openalex.org/W2038764407","https://openalex.org/W2040128625","https://openalex.org/W2042411797","https://openalex.org/W2054753981","https://openalex.org/W2055270239","https://openalex.org/W2059524639","https://openalex.org/W2060063409","https://openalex.org/W2061969094","https://openalex.org/W2062318504","https://openalex.org/W2065619480","https://openalex.org/W2068705848","https://openalex.org/W2068897365","https://openalex.org/W2070397918","https://openalex.org/W2070477984","https://openalex.org/W2070644160","https://openalex.org/W2072557933","https://openalex.org/W2074435689","https://openalex.org/W2075728226","https://openalex.org/W2076400021","https://openalex.org/W2077284745","https://openalex.org/W2081690197","https://openalex.org/W2082141046","https://openalex.org/W2082211576","https://openalex.org/W2082880365","https://openalex.org/W2084847435","https://openalex.org/W2086402519","https://openalex.org/W2088018354","https://openalex.org/W2089200695","https://openalex.org/W2092597147","https://openalex.org/W2092670526","https://openalex.org/W2093669238","https://openalex.org/W2095998476","https://openalex.org/W2096388240","https://openalex.org/W2096745854","https://openalex.org/W2097193502","https://openalex.org/W2097275111","https://openalex.org/W2098903157","https://openalex.org/W2101146365","https://openalex.org/W2102028712","https://openalex.org/W2103638901","https://openalex.org/W2104453327","https://openalex.org/W2108187583","https://openalex.org/W2109333560","https://openalex.org/W2111915173","https://openalex.org/W2115575740","https://openalex.org/W2115754379","https://openalex.org/W2117727028","https://openalex.org/W2117841202","https://openalex.org/W2117976440","https://openalex.org/W2118151959","https://openalex.org/W2118321898","https://openalex.org/W2122102089","https://openalex.org/W2125220003","https://openalex.org/W2126432980","https://openalex.org/W2130506593","https://openalex.org/W2131442692","https://openalex.org/W2131450874","https://openalex.org/W2136373330","https://openalex.org/W2136805124","https://openalex.org/W2141036744","https://openalex.org/W2141571647","https://openalex.org/W2142154935","https://openalex.org/W2147490023","https://openalex.org/W2148304769","https://openalex.org/W2148945706","https://openalex.org/W2150741372","https://openalex.org/W2151604976","https://openalex.org/W2153404919","https://openalex.org/W2153687216","https://openalex.org/W2154886338","https://openalex.org/W2154960684","https://openalex.org/W2156825403","https://openalex.org/W2159187058","https://openalex.org/W2159887713","https://openalex.org/W2160516087","https://openalex.org/W2162672934","https://openalex.org/W2164240678","https://openalex.org/W2165415520","https://openalex.org/W2167603638","https://openalex.org/W2169553740","https://openalex.org/W2190569986","https://openalex.org/W2270268773","https://openalex.org/W2286773225","https://openalex.org/W2313345084","https://openalex.org/W2396587631","https://openalex.org/W4243610823","https://openalex.org/W4300842729","https://openalex.org/W7124733257"],"related_works":["https://openalex.org/W2132489734","https://openalex.org/W1977729292","https://openalex.org/W7098949481","https://openalex.org/W2131260701","https://openalex.org/W4402713451","https://openalex.org/W1579768341","https://openalex.org/W2089214449","https://openalex.org/W939146718","https://openalex.org/W4404164879","https://openalex.org/W2120036709"],"abstract_inverted_index":{"Usher":[0,34],"syndrome":[1,15,35],"(USH)":[2],"is":[3,16,304,452],"an":[4],"inherited":[5],"blindness":[6],"and":[7,25,48,113,118,138,144,251,265,286,311,355,370,411,430,448],"deafness":[8],"disorder":[9],"with":[10,291,298,353,386],"variable":[11],"vestibular":[12],"dysfunction.":[13],"The":[14,30,154,220,253,324,339,417,442],"divided":[17],"into":[18],"three":[19,173,216],"subtypes":[20],"according":[21],"to":[22,60,133,145,171,181,234,273,346,403,414],"the":[23,64,70,82,136,141,147,162,172,186,195,200,205,210,214,227,235,261,268,316,363,377,397,425,431,446,474],"progression":[24],"severity":[26],"of":[27,128,140,149,164,185,204,213,267,376,450],"clinical":[28],"symptoms.":[29],"gene":[31,67],"mutated":[32,462],"in":[33,44,46,53,75,103,109,123,161,169,209,240,260,306,319,349,362,427,438,456,469],"type":[36],"3":[37],"(USH3),":[38],"clarin":[39],"1":[40],"(CLRN1),":[41],"was":[42,98,132,232,289,344,359,383],"identified":[43,52,74,285],"Finland":[45],"2001":[47],"two":[49,65,114,279],"mutations":[50,68,73,94,108,150,270,426],"were":[51,69,91,95,106,115,177,258,284],"Finnish":[54,76,83,432],"patients":[55],"at":[56],"that":[57,176,247,302],"time.":[58],"Prior":[59],"this":[61,129,182,277,419],"thesis":[62,130,420],"study,":[63,278],"CLRN1":[66,142,223,248,254,272,281,451,463],"only":[71],"USH":[72,77,84,89,428,433,439],"patients.":[78,405],"To":[79],"further":[80,134,455],"clarify":[81,146],"mutation":[85,102,122,434],"spectrum,":[86],"all":[87],"nine":[88],"genes":[90,429],"studied.":[92],"Seven":[93],"identified:":[96],"one":[97],"a":[99,116,119,336,453,467,471],"previously":[100,120],"known":[101,121,179],"CLRN1,":[104],"four":[105],"novel":[107,117,166,280],"myosin":[110],"VIIa":[111],"(MYO7A)":[112],"usherin":[124],"(USH2A).":[125],"Another":[126],"aim":[127],"research":[131,421],"study":[135],"structure":[137,447],"function":[139,449],"gene,":[143],"effects":[148],"on":[151],"protein":[152,224,294],"function.":[153],"search":[155],"for":[156,190,473],"new":[157],"splice":[158,167,174,192,218,230],"variants":[159,168,175,193],"resulted":[160],"identification":[163],"eight":[165],"addition":[170],"already":[178],"prior":[180],"study.":[183],"Studies":[184],"possible":[187],"promoter":[188],"regions":[189],"these":[191],"showed":[194,400],"most":[196],"active":[197],"region":[198],"included":[199],"1000":[201],"bases":[202],"upstream":[203],"translation":[206,393],"start":[207],"site":[208],"first":[211],"exon":[212,217],"main":[215,228],"variant.":[219],"232":[221],"aa":[222],"encoded":[225],"by":[226,461],"(three-exon)":[229],"variant":[231],"transported":[233],"plasma":[236],"membrane":[237],"when":[238],"expressed":[239,305,348],"cultured":[241],"cells.":[242],"Western":[243],"blot":[244],"studies":[245,297],"suggested":[246],"forms":[249],"dimers":[250],"multimers.":[252],"mutant":[255],"proteins":[256],"studied":[257,290],"retained":[259],"endoplasmic":[262],"reticulum":[263],"(ER)":[264],"some":[266],"USH3":[269,404,458],"caused":[271,460],"be":[274,347],"unstable.":[275],"During":[276],"sequence":[282],"alterations":[283],"their":[287],"pathogenicity":[288],"cell":[292,330],"culture":[293],"expression.":[295],"Previous":[296],"mice":[299,327],"had":[300,408],"shown":[301],"Clrn1":[303,325,357,381,392],"mouse":[307,320],"cochlear":[308,329],"hair":[309,350],"cells":[310,351],"spiral":[312],"ganglion":[313],"cells,":[314],"but":[315,332],"expression":[317,358],"profile":[318],"retina":[321],"remained":[322],"unknown.":[323],"knockout":[326],"display":[328],"disruption/death,":[331],"do":[333],"not":[334],"have":[335],"retinal":[337,371],"phenotype.":[338],"zebrafish,":[340],"Danio":[341],"rerio,":[342],"clrn1":[343],"found":[345,361],"associated":[352],"hearing":[354],"balance.":[356],"also":[360],"inner":[364],"nuclear":[365],"layer":[366,369,374],"(INL),":[367],"photoreceptor":[368],"pigment":[372],"epithelium":[373],"(RPE)":[375],"zebrafish":[378,398],"retina.":[379],"When":[380],"production":[382],"knocked":[384],"down":[385],"injected":[387],"morpholino":[388],"oligonucleotides":[389],"(MO)":[390],"targeting":[391],"or":[394],"correct":[395],"splicing,":[396],"larvae":[399,407],"symptoms":[401],"similar":[402],"These":[406],"balance/hearing":[409],"problems":[410],"reduced":[412],"response":[413],"visual":[415],"stimuli.":[416],"knowledge":[418],"has":[422],"provided":[423],"about":[424,445],"spectrum":[435],"are":[436],"important":[437],"patient":[440],"diagnostics.":[441],"extended":[443],"information":[444],"step":[454,468],"exploring":[457],"pathogenesis":[459],"as":[464,466],"well":[465],"finding":[470],"cure":[472],"disease.":[475]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-06-24T00:00:00"}
