{"id":"https://openalex.org/W2467680127","doi":null,"title":"Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma.","display_name":"Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma.","publication_year":2007,"publication_date":"2007-09-10","ids":{"openalex":"https://openalex.org/W2467680127","mag":"2467680127","pmid":"https://pubmed.ncbi.nlm.nih.gov/17893664"},"language":"en","primary_location":{"id":"pmid:17893664","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17893664","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":"Molecular vision","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"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/A5062760201","display_name":"Yung-Chang Yen","orcid":"https://orcid.org/0000-0002-6931-4409","observed_orcids":["https://orcid.org/0000-0002-6931-4409"]},"institutions":[{"id":"https://openalex.org/I91279580","display_name":"Chung Shan Medical University","ror":"https://ror.org/059ryjv25","country_code":"TW","type":"education","lineage":["https://openalex.org/I91279580"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yung-Chang Yen","raw_affiliation_strings":["Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan","institution_ids":["https://openalex.org/I91279580"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073468153","display_name":"Jiann\u2010Jou Yang","orcid":"https://orcid.org/0000-0002-9019-2178","observed_orcids":["https://orcid.org/0000-0002-9019-2178"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jiann-Jou Yang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108770361","display_name":"Ming-Chih Chou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ming-Chih Chou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5089542736","display_name":"Shuan-Yow Li","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shuan-Yow Li","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.9478,"has_fulltext":false,"cited_by_count":25,"citation_normalized_percentile":{"value":0.75191827,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"13","issue":null,"first_page":"1627","last_page":"34"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.986299991607666,"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/T10250","display_name":"Glaucoma and retinal disorders","score":0.986299991607666,"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/T11480","display_name":"Connexins and lens biology","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular 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/T10563","display_name":"Corneal surgery and disorders","score":0.00039999998989515007,"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/myocilin","display_name":"myocilin","score":0.859000027179718},{"id":"https://openalex.org/keywords/myoc-gene","display_name":"MYOC gene","score":0.8960000276565552},{"id":"https://openalex.org/keywords/juvenile-onset-open-angle-glaucoma","display_name":"juvenile-onset open-angle glaucoma","score":0.9959999918937683},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.6470000147819519},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.8880000114440918},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9959999918937683},{"id":"https://openalex.org/keywords/intron-mutations","display_name":"intron mutations","score":0.925000011920929},{"id":"https://openalex.org/keywords/splice-sites","display_name":"splice sites","score":0.6470000147819519},{"id":"https://openalex.org/keywords/hot-spot-mutations","display_name":"hot spot mutations","score":0.6690000295639038},{"id":"https://openalex.org/keywords/taiwanese-patients","display_name":"Taiwanese patients","score":0.8920000195503235}],"concepts":[{"id":"https://openalex.org/C2781147369","wikidata":"https://www.wikidata.org/wiki/Q18029808","display_name":"Myocilin","level":4,"score":0.966411292552948},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7617917656898499},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7513498067855835},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6964666247367859},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6234599351882935},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6081207394599915},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5919704437255859},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5686773657798767},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5668932795524597},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4230075776576996},{"id":"https://openalex.org/C2778527774","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Glaucoma","level":2,"score":0.23038619756698608},{"id":"https://openalex.org/C2991803831","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Open angle glaucoma","level":3,"score":0.11284133791923523},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000099179","descriptor_name":"Myocilin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000225","descriptor_name":"Adenine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005902","descriptor_name":"Glaucoma, Open-Angle","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005902","descriptor_name":"Glaucoma, Open-Angle","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006023","descriptor_name":"Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013624","descriptor_name":"Taiwan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013941","descriptor_name":"Thymine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020413","descriptor_name":"3' Untranslated Regions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:17893664","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17893664","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":"Molecular vision","raw_type":"Journal Article"},{"id":"mag:2467680127","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17893664","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2135879107","https://openalex.org/W1516681314","https://openalex.org/W1944051844","https://openalex.org/W2107350054","https://openalex.org/W2065309881","https://openalex.org/W4409727138","https://openalex.org/W1969328783","https://openalex.org/W2067155379","https://openalex.org/W2013127430","https://openalex.org/W4404674915"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"investigate":[2],"mutations":[3,29,75,109,125,134,142,234],"in":[4,15,30,38,135,164,257],"the":[5,11,65,80,87,91,107,114,165,182,185,189,211,216,226,247],"promoter":[6,62],"and":[7,37,51,61,126,178,214,232],"coding":[8],"regions":[9,63],"of":[10,64,93,116,131,184,219,235,251],"myocilin":[12],"(MYOC)":[13],"gene":[14,133],"Taiwanese":[16,33,258],"patients":[17,259],"suffering":[18],"from":[19,47,79],"juvenile-onset":[20],"open-angle":[21],"glaucoma":[22],"(JOAG).":[23],"METHODS:":[24],"MYOC":[25,66,94,124,132,236,252],"was":[26,45,138],"analyzed":[27],"for":[28,73],"48":[31],"unrelated":[32],"probands":[34],"with":[35,240,260],"JOAG":[36],"100":[39],"healthy":[40],"control":[41],"subjects.":[42],"Genomic":[43],"DNA":[44],"extracted":[46],"peripheral":[48],"blood":[49],"leukocytes":[50],"then":[52,84],"subjected":[53],"to":[54,56,104],"PCR":[55],"amplify":[57],"exons,":[58],"flanking":[59],"introns":[60],"gene.":[67],"The":[68,120,129,141],"amplified":[69],"products":[70],"were":[71,83,96],"screened":[72],"base":[74],"by":[76,98],"autosequence.":[77],"Data":[78],"two":[81],"groups":[82],"compared":[85],"using":[86],"chi(2)":[88],"test.":[89],"Finally,":[90],"levels":[92],"transcripts":[95],"predicted":[97],"a":[99,200,254],"neural":[100,190],"network":[101,191],"prediction":[102,192],"system":[103,193],"study":[105,137],"whether":[106],"intron":[108,155,176],"have":[110],"any":[111],"effect":[112],"on":[113],"level":[115],"mRNA":[117],"expression.":[118],"RESULTS:":[119],"analysis":[121],"revealed":[122,194],"four":[123],"six":[127],"polymorphisms.":[128],"prevalence":[130],"this":[136],"12.5%":[139],"(6/48).":[140],"included":[143],"one":[144,149,154,162],"nonsense":[145],"mutation":[146,151,156,163,177,208,250],"(Arg46Stop;":[147],"3/6),":[148],"missense":[150],"(Val56Ala;":[152],"1/6),":[153],"(c.604+228A>T;":[157],"1/6)":[158],"as":[159,161],"well":[160],"3'-untranslated":[166],"region":[167],"(c.1515+73G>C;":[168],"1/6).":[169],"In":[170,242],"addition,":[171,243],"although":[172],"c.604+228A>T":[173],"is":[174,253],"an":[175],"does":[179],"not":[180],"alter":[181],"content":[183],"amino":[186],"acid":[187],"residue,":[188],"that":[195,225,246],"it":[196],"can":[197],"potentially":[198],"create":[199],"novel":[201],"accept":[202],"splice":[203],"site":[204],"during":[205],"transcription.":[206],"This":[207],"might":[209],"affect":[210],"protein":[212],"structure":[213],"consequently":[215],"normal":[217],"function":[218],"myocilin.":[220],"CONCLUSIONS:":[221],"Our":[222],"results":[223],"indicate":[224],"c.136C>T":[227,248],"(Arg46Stop),":[228],"c.158T>C":[229],"(Val56Ala),":[230],"c.604+228A>T,":[231],"c.1515+73G>C":[233],"may":[237],"be":[238],"associated":[239],"JOAG.":[241,261],"we":[244],"suggest":[245],"(Arg46Stop)":[249],"hot":[255],"spot":[256]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-07-22T00:00:00"}
