{"id":"https://openalex.org/W2102588042","doi":null,"title":"MYOC and FOXC1 gene analysis in primary congenital glaucoma.","display_name":"MYOC and FOXC1 gene analysis in primary congenital glaucoma.","publication_year":2010,"publication_date":"2010-10-08","ids":{"openalex":"https://openalex.org/W2102588042","mag":"2102588042","pmid":"https://pubmed.ncbi.nlm.nih.gov/21031026","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2956699"},"language":"en","primary_location":{"id":"pmid:21031026","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21031026","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/PMC2956699/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5026730801","display_name":"Mukesh Tanwar","orcid":"https://orcid.org/0000-0003-0370-0371","observed_orcids":["https://orcid.org/0000-0003-0370-0371"]},"institutions":[{"id":"https://openalex.org/I63739035","display_name":"All India Institute of Medical Sciences","ror":"https://ror.org/02dwcqs71","country_code":"IN","type":"education","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210148677","https://openalex.org/I63739035"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Mukesh Tanwar","raw_affiliation_strings":["Laboratory For Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory For Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India","institution_ids":["https://openalex.org/I63739035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101662178","display_name":"Manoj Kumar","orcid":"https://orcid.org/0000-0001-6334-014X","observed_orcids":["https://orcid.org/0000-0001-6334-014X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Manoj Kumar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110749486","display_name":"Tanuj Dada","orcid":"https://orcid.org/0000-0002-3111-396X","observed_orcids":["https://orcid.org/0000-0002-3111-396X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tanuj Dada","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080167326","display_name":"Ramanjit Sihota","orcid":"https://orcid.org/0000-0002-0986-5954","observed_orcids":["https://orcid.org/0000-0002-0986-5954"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ramanjit Sihota","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5030297371","display_name":"Rima Dada","orcid":"https://orcid.org/0000-0002-4920-0789","observed_orcids":["https://orcid.org/0000-0002-4920-0789"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rima Dada","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":2.0207,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.84249992,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"16","issue":null,"first_page":"1996","last_page":"2006"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.9911999702453613,"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":0.9911999702453613,"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.005200000014156103,"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/T10563","display_name":"Corneal surgery and disorders","score":0.0005000000237487257,"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/primary-congenital-glaucoma","display_name":"primary congenital glaucoma","score":0.9990000128746033},{"id":"https://openalex.org/keywords/myocilin","display_name":"myocilin","score":0.8460000157356262},{"id":"https://openalex.org/keywords/myoc-gene","display_name":"MYOC gene","score":0.8379999995231628},{"id":"https://openalex.org/keywords/foxc1","display_name":"FOXC1","score":0.8379999995231628},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8569999933242798},{"id":"https://openalex.org/keywords/sequence-variation","display_name":"sequence variation","score":0.6460000276565552},{"id":"https://openalex.org/keywords/cyp1b1-mutations","display_name":"CYP1B1 mutations","score":0.8799999952316284},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.7200000286102295},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.6710000038146973}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5982349514961243},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5868241786956787},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5437802076339722},{"id":"https://openalex.org/C2778527774","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Glaucoma","level":2,"score":0.4717194437980652},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3412194848060608},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32725226879119873},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3265998065471649},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.32087618112564087},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.13554206490516663}],"mesh":[{"descriptor_ui":"D000099179","descriptor_name":"Myocilin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"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":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D040681","descriptor_name":"Structural Homology, Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051858","descriptor_name":"Forkhead Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"pmid:21031026","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21031026","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:2956699","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2956699/","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:10.1.1.352.465","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.352.465","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/99/8b/Mol_Vis_2010_Oct_8_16_1996-2006.tar.gz","raw_type":"text"},{"id":"mag:2102588042","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21031026","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:2956699","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2956699/","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":[{"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W17065653","https://openalex.org/W54262226","https://openalex.org/W320350796","https://openalex.org/W1449822855","https://openalex.org/W1514272198","https://openalex.org/W1521997410","https://openalex.org/W1529788780","https://openalex.org/W1538736897","https://openalex.org/W1955923360","https://openalex.org/W1964515182","https://openalex.org/W1980740976","https://openalex.org/W1985141564","https://openalex.org/W1998662169","https://openalex.org/W2024201682","https://openalex.org/W2024234545","https://openalex.org/W2030878148","https://openalex.org/W2034607546","https://openalex.org/W2046632616","https://openalex.org/W2056273383","https://openalex.org/W2056967728","https://openalex.org/W2070298717","https://openalex.org/W2071647588","https://openalex.org/W2074239537","https://openalex.org/W2078477574","https://openalex.org/W2080592881","https://openalex.org/W2087510669","https://openalex.org/W2102112915","https://openalex.org/W2109372707","https://openalex.org/W2119228812","https://openalex.org/W2119268547","https://openalex.org/W2121772417","https://openalex.org/W2124334570","https://openalex.org/W2128727932","https://openalex.org/W2141968323","https://openalex.org/W2143238378","https://openalex.org/W2147587302","https://openalex.org/W2150005656","https://openalex.org/W2158230021","https://openalex.org/W2160938004","https://openalex.org/W2163129996","https://openalex.org/W2506062421","https://openalex.org/W2615888485"],"related_works":["https://openalex.org/W7100768681","https://openalex.org/W3137570873","https://openalex.org/W2024234545","https://openalex.org/W2087510669","https://openalex.org/W7097050231","https://openalex.org/W1544766136","https://openalex.org/W4386468606","https://openalex.org/W7098106496","https://openalex.org/W7096626037","https://openalex.org/W2098397015"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"screen":[2,111],"the":[3],"myocilin":[4],"(MYOC)":[5],"and":[6,31,49,62,68,73,84,91],"forkhead":[7],"box":[8],"protein":[9],"C1":[10],"(FOXC1)":[11],"genes":[12],"for":[13,28,37,41,114,126],"sequence":[14,70],"variations":[15,30,71,79],"in":[16,66,75,82,86,97,103,116,119,134],"primary":[17,100],"congenital":[18,101,117],"glaucoma":[19,102,118],"(PCG).":[20],"METHODS:":[21],"Seventy":[22],"five":[23],"PCG":[24],"patients":[25],"were":[26,64,80],"screened":[27],"MYOC":[29,67,83,90],"54":[32],"cases":[33,120],"(negative":[34],"or":[35,124],"heterozygous":[36,125],"cytochrome":[38],"P4501B1":[39],"mutations)":[40],"FOXC1":[42,85,92],"mutations":[43,93,128],"by":[44],"polymerase":[45],"chain":[46],"reaction":[47],"(PCR)":[48],"DNA":[50],"sequencing.":[51],"RESULTS:":[52],"Five":[53],"single":[54],"nucleotide":[55],"polymorphisms":[56],"(SNPs;":[57],"-126T>C,":[58],"-83G>A,":[59],"p.R76K,":[60],"IVS2+35G>A,":[61],"p.Y347Y)":[63],"identified":[65,81],"two":[69],"(GGC375ins":[72],"GGC447ins)":[74],"FOXC1.":[76],"No":[77],"pathogenic":[78],"our":[87,104],"patients.":[88,105],"CONCLUSIONS:":[89],"are":[94,122],"not":[95],"involved":[96],"pathogenesis":[98],"of":[99],"Thus,":[106],"it":[107],"is":[108],"important":[109],"to":[110,129,135],"other":[112],"loci":[113],"involvement":[115],"which":[121],"negative":[123],"CYP1B1":[127],"have":[130],"a":[131],"better":[132],"insight":[133],"disease":[136],"pathogenesis.":[137]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
