{"id":"https://openalex.org/W2118770845","doi":null,"title":"Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.","display_name":"Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.","publication_year":2002,"publication_date":"2002-05-01","ids":{"openalex":"https://openalex.org/W2118770845","mag":"2118770845","pmid":"https://pubmed.ncbi.nlm.nih.gov/11980847"},"language":"en","primary_location":{"id":"pmid:11980847","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11980847","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":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},"volume":null,"type":"article","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/A5109860067","display_name":"Shirly George Panicker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801255070","display_name":"L V Prasad Eye Institute","ror":"https://ror.org/01w8z9742","country_code":"IN","type":"funder","lineage":["https://openalex.org/I2801255070"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Shirly G Panicker","raw_affiliation_strings":["Hyderabad Eye Research Foundation, L. V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad 500 034, Andhra Pradesh, India. shirly@lvpeye.stph.net"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hyderabad Eye Research Foundation, L. V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad 500 034, Andhra Pradesh, India. shirly@lvpeye.stph.net","institution_ids":["https://openalex.org/I2801255070"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060647223","display_name":"Aramati B. M. Reddy","orcid":"https://orcid.org/0000-0002-9069-0310","observed_orcids":["https://orcid.org/0000-0002-9069-0310"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aramati B M Reddy","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030495961","display_name":"Anil Kumar Mandal","orcid":"https://orcid.org/0000-0002-6436-4060","observed_orcids":["https://orcid.org/0000-0002-6436-4060"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anil K Mandal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045733858","display_name":"Niyaz Ahmed","orcid":"https://orcid.org/0000-0001-6425-7583","observed_orcids":["https://orcid.org/0000-0001-6425-7583"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Niyaz Ahmed","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048834515","display_name":"Hampapathalu Adimurthy Nagarajaram","orcid":"https://orcid.org/0000-0001-8568-0620","observed_orcids":["https://orcid.org/0000-0001-8568-0620"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hampapathalu A Nagarajaram","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005971403","display_name":"Seyed E. Hasnain","orcid":"https://orcid.org/0000-0002-2967-0791","observed_orcids":["https://orcid.org/0000-0002-2967-0791","https://orcid.org/0000-0002-3540-6954"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Seyed E Hasnain","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5108737969","display_name":"Dorairajan Balasubramanian","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dorairajan Balasubramanian","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":7.6405,"has_fulltext":false,"cited_by_count":104,"citation_normalized_percentile":{"value":0.9728931,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"43","issue":"5","first_page":"1358","last_page":"66"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.9775000214576721,"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":0.9775000214576721,"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":0.017500000074505806,"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/T10563","display_name":"Corneal surgery and disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2741","display_name":"Radiology, Nuclear Medicine and Imaging"},"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":0.9980000257492065},{"id":"https://openalex.org/keywords/cyp1b1","display_name":"CYP1B1","score":0.953000009059906},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9139999747276306},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.9179999828338623},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.8349999785423279},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.984000027179718},{"id":"https://openalex.org/keywords/null-alleles","display_name":"null alleles","score":0.7829999923706055},{"id":"https://openalex.org/keywords/childhood-blindness","display_name":"childhood blindness","score":0.8690000176429749},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9169999957084656},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8140000104904175}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8117357492446899},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.776878297328949},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7266980409622192},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6323950290679932},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.6110923290252686},{"id":"https://openalex.org/C155701950","wikidata":"https://www.wikidata.org/wiki/Q14905165","display_name":"CYP1B1","level":4,"score":0.5885822772979736},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4840247333049774},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.46979865431785583},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4596085548400879},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4285622239112854},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3847561478614807},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.0},{"id":"https://openalex.org/C526171541","wikidata":"https://www.wikidata.org/wiki/Q407693","display_name":"Cytochrome P450","level":3,"score":0.0},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001189","descriptor_name":"Aryl Hydrocarbon Hydroxylases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005902","descriptor_name":"Glaucoma, Open-Angle","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D005902","descriptor_name":"Glaucoma, Open-Angle","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005902","descriptor_name":"Glaucoma, Open-Angle","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D005902","descriptor_name":"Glaucoma, Open-Angle","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":"D007194","descriptor_name":"India","qualifier_ui":"Q000453","qualifier_name":"epidemiology","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":"D010375","descriptor_name":"Pedigree","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":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","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":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","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":true},{"descriptor_ui":"D065633","descriptor_name":"Cytochrome P-450 CYP1B1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:11980847","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11980847","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":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},{"id":"mag:2118770845","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11980847","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.47999998927116394}],"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":41,"referenced_works":["https://openalex.org/W161505987","https://openalex.org/W174697380","https://openalex.org/W1521997410","https://openalex.org/W1529788780","https://openalex.org/W1561116338","https://openalex.org/W1562714951","https://openalex.org/W1590039198","https://openalex.org/W1954855504","https://openalex.org/W1955923360","https://openalex.org/W1973755623","https://openalex.org/W1975957761","https://openalex.org/W1976431559","https://openalex.org/W1977660995","https://openalex.org/W2008478558","https://openalex.org/W2009664649","https://openalex.org/W2011335970","https://openalex.org/W2029731237","https://openalex.org/W2034113208","https://openalex.org/W2035459039","https://openalex.org/W2040567714","https://openalex.org/W2046485437","https://openalex.org/W2046632616","https://openalex.org/W2046933840","https://openalex.org/W2056273383","https://openalex.org/W2070014684","https://openalex.org/W2074239537","https://openalex.org/W2076233461","https://openalex.org/W2078098781","https://openalex.org/W2079329077","https://openalex.org/W2079489812","https://openalex.org/W2102112915","https://openalex.org/W2102164187","https://openalex.org/W2105719984","https://openalex.org/W2112715420","https://openalex.org/W2121772417","https://openalex.org/W2122969263","https://openalex.org/W2124334570","https://openalex.org/W2128727932","https://openalex.org/W2146999026","https://openalex.org/W2360665023","https://openalex.org/W2621819290"],"related_works":["https://openalex.org/W3160476962","https://openalex.org/W3158627221","https://openalex.org/W2479573345","https://openalex.org/W5145305","https://openalex.org/W3173985263","https://openalex.org/W2119268547","https://openalex.org/W2593840027","https://openalex.org/W2894915448","https://openalex.org/W4415541548","https://openalex.org/W2100719330"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"determine":[2],"the":[3,18,56,66,116,157,173,185,201,208,213,219],"possible":[4],"molecular":[5,153,194,214],"genetic":[6,231],"defect":[7,195],"underlying":[8],"primary":[9,37],"congenital":[10],"glaucoma":[11,171],"(PCG)":[12],"in":[13,49,65,71,143,177,183,229,243],"India":[14],"and":[15,47,52,93,222,225,235],"to":[16,54,111,156,197,211],"identify":[17,55],"pathogenic":[19],"mutations":[20,62,81],"causing":[21],"this":[22,178,193,245],"childhood":[23,247],"blindness.":[24,248],"METHODS:":[25],"Twenty-two":[26],"members":[27],"of":[28,69,74,78,121,136,159,187,191,203,216],"five":[29,75],"clinically":[30],"well-characterized":[31],"consanguineous":[32],"families":[33],"were":[34,63,103],"studied.":[35],"The":[36,152],"candidate":[38],"gene":[39],"CYP1B1":[40,70,114,140,164],"was":[41],"amplified":[42],"from":[43,218],"genomic":[44],"DNA,":[45],"sequenced,":[46],"analyzed":[48],"control":[50],"subjects":[51],"patients":[53,73,148],"disease-causing":[57],"mutations.":[58,96],"RESULTS:":[59],"Five":[60],"distinct":[61],"identified":[64,118,176],"coding":[67],"region":[68],"eight":[72],"PCG-affected":[76],"families,":[77],"which":[79],"three":[80],"are":[82,128,149],"novel.":[83],"These":[84],"include":[85],"a":[86,133,137,144,170,240],"novel":[87],"homozygous":[88],"frameshift,":[89],"compound":[90],"heterozygous":[91],"missense,":[92],"other":[94],"known":[95,113],"One":[97],"family":[98],"showed":[99],"pseudodominance,":[100],"whereas":[101],"others":[102],"autosomal":[104],"recessive":[105],"with":[106],"full":[107],"penetrance.":[108],"In":[109],"contrast":[110],"all":[112,125],"mutations,":[115],"newly":[117],"frameshift":[119],"is":[120,161,207,239],"special":[122],"significance,":[123],"because":[124],"functional":[126,139,174],"motifs":[127],"missing.":[129],"This,":[130],"therefore,":[131],"represents":[132],"rare":[134],"example":[135],"natural":[138],"knockout,":[141],"resulting":[142],"null":[145],"allele":[146],"(both":[147],"blind).":[150],"CONCLUSIONS:":[151],"mechanism":[154],"leading":[155],"development":[158,202],"PCG":[160,198,217],"unknown.":[162],"Because":[163],"knockout":[165,175],"mice":[166],"did":[167],"not":[168],"show":[169],"phenotype,":[172],"study":[179,210],"has":[180,223],"important":[181],"implications":[182,228],"elucidating":[184],"pathogenesis":[186],"PCG.":[188],"Further":[189],"understanding":[190],"how":[192],"leads":[196],"could":[199],"influence":[200],"specific":[204],"therapies.":[205],"This":[206],"first":[209],"describe":[212],"basis":[215],"Indian":[220],"subcontinent":[221],"profound":[224],"multiple":[226],"clinical":[227],"diagnosis,":[230],"counseling,":[232],"genotype-phenotype":[233],"correlations":[234],"prognosis.":[236],"Hence,":[237],"it":[238],"step":[241],"forward":[242],"preventing":[244],"devastating":[246]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
