{"id":"https://openalex.org/W1689174940","doi":null,"title":"A novel PAX6 deletion in a Chinese family with congenital aniridia.","display_name":"A novel PAX6 deletion in a Chinese family with congenital aniridia.","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W1689174940","mag":"1689174940","pmid":"https://pubmed.ncbi.nlm.nih.gov/22550392","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3339035"},"language":"en","primary_location":{"id":"pmid:22550392","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22550392","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":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3339035/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053111614","display_name":"Jian\u2010Huan Chen","orcid":"https://orcid.org/0000-0001-8714-2543","observed_orcids":["https://orcid.org/0000-0001-8714-2543"]},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]},{"id":"https://openalex.org/I32574673","display_name":"Shantou University","ror":"https://ror.org/01a099706","country_code":"CN","type":"education","lineage":["https://openalex.org/I32574673"]},{"id":"https://openalex.org/I4405272034","display_name":"Joint Shantou International Eye Center","ror":"https://ror.org/03f99vf20","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I4405272034"]}],"countries":["CN","HK"],"is_corresponding":false,"raw_author_name":"Jian Huan Chen","raw_affiliation_strings":["Joint Shantou International Eye Center, Shantou University & the Chinese University of Hong Kong, Shantou, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Joint Shantou International Eye Center, Shantou University & the Chinese University of Hong Kong, Shantou, China","institution_ids":["https://openalex.org/I177725633","https://openalex.org/I32574673","https://openalex.org/I4405272034"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027775730","display_name":"Weitao Lin","orcid":"https://orcid.org/0000-0003-4385-9897","observed_orcids":["https://orcid.org/0000-0003-4385-9897"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Weitao Lin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102898359","display_name":"Guoying Sun","orcid":"https://orcid.org/0000-0003-3318-390X","observed_orcids":["https://orcid.org/0000-0003-3318-390X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Guoying Sun","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044015914","display_name":"Chukai Huang","orcid":"https://orcid.org/0000-0002-3219-1329","observed_orcids":["https://orcid.org/0000-0002-3219-1329"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chukai Huang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103279400","display_name":"Yuqiang Huang","orcid":"https://orcid.org/0000-0003-3290-8243","observed_orcids":["https://orcid.org/0000-0003-3290-8243"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yuqiang Huang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100763973","display_name":"Haoyu Chen","orcid":"https://orcid.org/0000-0003-0676-4610","observed_orcids":["https://orcid.org/0000-0003-0676-4610"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Haoyu Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075239035","display_name":"Chi Pui Pang","orcid":"https://orcid.org/0000-0002-7764-6382","observed_orcids":["https://orcid.org/0000-0002-7764-6382"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chi Pui Pang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5100348441","display_name":"Mingzhi Zhang","orcid":"https://orcid.org/0000-0003-3581-551X","observed_orcids":["https://orcid.org/0000-0003-3581-551X","https://orcid.org/0000-0002-7113-4634","https://orcid.org/0000-0001-8390-6550"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mingzhi Zhang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.8469,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.7287215,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"18","issue":null,"first_page":"989","last_page":"95"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.9990000128746033,"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.9990000128746033,"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/T10691","display_name":"Retinal Development and Disorders","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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pax6","display_name":"Pax6","score":0.9480000138282776},{"id":"https://openalex.org/keywords/congenital-aniridia","display_name":"congenital aniridia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8299999833106995},{"id":"https://openalex.org/keywords/3-untranslated-region","display_name":"3' untranslated region","score":0.8109999895095825},{"id":"https://openalex.org/keywords/microrna-binding-sites","display_name":"microRNA binding sites","score":0.9430000185966492},{"id":"https://openalex.org/keywords/chinese-family","display_name":"Chinese family","score":0.8230000138282776}],"concepts":[{"id":"https://openalex.org/C51816534","wikidata":"https://www.wikidata.org/wiki/Q14916213","display_name":"PAX6","level":4,"score":0.9282857179641724},{"id":"https://openalex.org/C2776608714","wikidata":"https://www.wikidata.org/wiki/Q548719","display_name":"Aniridia","level":3,"score":0.7436120510101318},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7034599184989929},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6913268566131592},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6187293529510498},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5648925304412842},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.5601760745048523},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4832664132118225},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.39524564146995544},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000071841","descriptor_name":"PAX6 Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","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":"D001665","descriptor_name":"Binding Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012097","descriptor_name":"Repressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015783","descriptor_name":"Aniridia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020413","descriptor_name":"3' Untranslated Regions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051761","descriptor_name":"Paired Box Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"pmid:22550392","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22550392","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":"pmh:oai:pubmedcentral.nih.gov:3339035","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3339035/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.270.4228","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.270.4228","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/4a/80/Mol_Vis_2012_Apr_21_18_989-995.tar.gz","raw_type":"text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.871.4216","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.871.4216","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.molvis.org/molvis/v18/a104/mv-v18-a104-chen.pdf","raw_type":"text"},{"id":"mag:1689174940","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22550392","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":{"id":"pmh:oai:pubmedcentral.nih.gov:3339035","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3339035/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","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":36,"referenced_works":["https://openalex.org/W196978574","https://openalex.org/W205952351","https://openalex.org/W1520422965","https://openalex.org/W1591901996","https://openalex.org/W1888122225","https://openalex.org/W1997782721","https://openalex.org/W2012020061","https://openalex.org/W2013773891","https://openalex.org/W2015615191","https://openalex.org/W2027886945","https://openalex.org/W2028269974","https://openalex.org/W2033690523","https://openalex.org/W2036503511","https://openalex.org/W2036625038","https://openalex.org/W2060484473","https://openalex.org/W2081199383","https://openalex.org/W2083381199","https://openalex.org/W2090268833","https://openalex.org/W2095664275","https://openalex.org/W2121934176","https://openalex.org/W2124930687","https://openalex.org/W2131176101","https://openalex.org/W2133509571","https://openalex.org/W2137015675","https://openalex.org/W2146006537","https://openalex.org/W2154040587","https://openalex.org/W2165786409","https://openalex.org/W2185723610","https://openalex.org/W2258497183","https://openalex.org/W2350779298","https://openalex.org/W2397135083","https://openalex.org/W2410674654","https://openalex.org/W2412324632","https://openalex.org/W2413587229","https://openalex.org/W2416487017","https://openalex.org/W4299851828"],"related_works":["https://openalex.org/W7099492318","https://openalex.org/W2124930687","https://openalex.org/W7097826265","https://openalex.org/W2410674654","https://openalex.org/W3030977855","https://openalex.org/W2397882228","https://openalex.org/W6958540010","https://openalex.org/W1493865930","https://openalex.org/W2931702903","https://openalex.org/W4249061291"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"identify":[2],"a":[3,12,38,164,171,215],"disease-causing":[4],"paired":[5],"box":[6],"6":[7],"(PAX6)":[8],"gene":[9],"mutation":[10,77,130,239],"in":[11,24,52,124,134,141,201,220,226],"Chinese":[13,228],"family":[14,30,137,144,229],"affected":[15,136,179,230],"by":[16,64,85,105,206,231],"autosomal":[17],"dominant":[18],"congenital":[19,126],"aniridia.":[20,232],"METHODS:":[21],"All":[22],"participants":[23],"the":[25,28,119,125,153,160,178,202,210,227,238],"study,":[26],"including":[27,163],"aniridia":[29,127],"and":[31,55,83,118,170],"100":[32],"unrelated":[33,147],"senile":[34],"cataract":[35],"controls,":[36],"received":[37],"comprehensive":[39],"ophthalmic":[40],"examination.":[41],"Genomic":[42],"DNA":[43],"was":[44,62,122,131],"extracted":[45],"from":[46],"their":[47,56],"whole":[48],"blood.":[49],"Mutation":[50],"screen":[51],"all":[53,135],"exons":[54],"adjacent":[57],"splicing":[58],"junctions":[59],"of":[60,67,75,159,167,181,241],"PAX6":[61,95,111,161,182,217,223],"performed":[63,90],"direct":[65],"sequencing":[66],"polymerase":[68],"chain":[69],"reaction":[70],"(PCR)":[71],"products.":[72],"PCR":[73],"products":[74],"heterozygous":[76,110],"were":[78,89,103],"further":[79],"cloned":[80],"into":[81],"T-vectors":[82],"confirmed":[84],"sequencing.":[86],"Multiple":[87,174],"alignments":[88,175],"using":[91],"ClustalX":[92],"to":[93,156,237],"compare":[94],"protein":[96,168],"sequences":[97],"among":[98,188],"vertebrates.":[99],"MicroRNA":[100],"binding":[101,199],"sites":[102,200],"predicted":[104,205],"TargetScan.":[106,207],"RESULTS:":[107],"A":[108],"novel":[109,216],"deletion":[112,154,218],"c.1251_1353del103":[113],"(p.Pro418Serfs*87)":[114],"affecting":[115],"exon":[116],"14":[117],"3'-untranslated-region":[120],"(3'-UTR)":[121],"identified":[123],"family.":[128],"The":[129,192],"exclusively":[132],"observed":[133],"members":[138],"but":[139],"not":[140],"any":[142],"unaffected":[143],"member":[145],"or":[146],"control.":[148],"Bioinformatics":[149],"analysis":[150],"showed":[151,176],"that":[152,177],"led":[155],"remarkable":[157],"changes":[158,166],"protein,":[162],"frameshift,":[165],"sequence,":[169],"COOH-terminal":[172,193,224],"extension.":[173],"region":[180],"shared":[183],"high":[184],"sequence":[185],"identity":[186],"(100%)":[187],"its":[189],"vertebrate":[190],"orthologs.":[191],"extension":[194,225],"might":[195],"also":[196],"affect":[197],"microRNA":[198],"3'-UTR":[203],"as":[204],"CONCLUSIONS:":[208],"In":[209],"current":[211],"study":[212],"we":[213],"reported":[214],"resulting":[219],"an":[221],"abnormal":[222],"Our":[233],"findings":[234],"thus":[235],"add":[236],"spectrum":[240],"PAX6.":[242]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
