{"id":"https://openalex.org/W83975137","doi":null,"title":"A molecular study of the rhodopsin locus in patients with retinitis pigmentosa","display_name":"A molecular study of the rhodopsin locus in patients with retinitis pigmentosa","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W83975137","mag":"83975137"},"language":"en","primary_location":{"id":"pmh:oai:digitalcommons.library.tmc.edu:dissertations-2427","doi":null,"is_oa":false,"landing_page_url":"https://digitalcommons.library.tmc.edu/dissertations/AAI9526593","pdf_url":null,"source":{"id":"https://openalex.org/S4377196655","display_name":"Digital Commons-TMC (Texas Medical Center)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1337852284","host_organization_name":"Texas Medical Center","host_organization_lineage":["https://openalex.org/I1337852284"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Texas Medical Center Dissertations (via ProQuest)","raw_type":"text"},"volume":null,"type":"dissertation","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Joseph Rodriguez","orcid":"https://orcid.org/0000-0002-6017-1376","observed_orcids":["https://orcid.org/0000-0002-6017-1376"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Joseph Rodriguez","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6017-1376","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"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":0.9990000128746033,"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"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":9.999999747378752e-05,"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/T12331","display_name":"Hereditary Neurological Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"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/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.984000027179718},{"id":"https://openalex.org/keywords/rhodopsin","display_name":"rhodopsin","score":0.8550000190734863},{"id":"https://openalex.org/keywords/autosomal-dominant-retinitis-pigmentosa","display_name":"autosomal dominant retinitis pigmentosa","score":0.9850000143051147},{"id":"https://openalex.org/keywords/rhodopsin-mutations","display_name":"rhodopsin mutations","score":0.8230000138282776},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7400000095367432},{"id":"https://openalex.org/keywords/splice-variants","display_name":"splice variants","score":0.7179999947547913},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.5879999995231628},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8009999990463257},{"id":"https://openalex.org/keywords/retinal-dystrophy","display_name":"retinal dystrophy","score":0.7080000042915344},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.4950000047683716},{"id":"https://openalex.org/keywords/single-strand-conformation-polymorphism","display_name":"single-strand conformation polymorphism","score":0.6240000128746033}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.9314084053039551},{"id":"https://openalex.org/C202033177","wikidata":"https://www.wikidata.org/wiki/Q423107","display_name":"Rhodopsin","level":3,"score":0.925432562828064},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5461243391036987},{"id":"https://openalex.org/C63971535","wikidata":"https://www.wikidata.org/wiki/Q6666068","display_name":"Locus heterogeneity","level":5,"score":0.5398897528648376},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40850716829299927},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4027107059955597},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.36339735984802246},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.3493029475212097},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31608882546424866},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.21928182244300842},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18735763430595398},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.08181178569793701},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:digitalcommons.library.tmc.edu:dissertations-2427","doi":null,"is_oa":false,"landing_page_url":"https://digitalcommons.library.tmc.edu/dissertations/AAI9526593","pdf_url":null,"source":{"id":"https://openalex.org/S4377196655","display_name":"Digital Commons-TMC (Texas Medical Center)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1337852284","host_organization_name":"Texas Medical Center","host_organization_lineage":["https://openalex.org/I1337852284"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Texas Medical Center Dissertations (via ProQuest)","raw_type":"text"},{"id":"mag:83975137","doi":null,"is_oa":false,"landing_page_url":"https://digitalcommons.library.tmc.edu/cgi/viewcontent.cgi?article=2427&context=dissertations","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":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"sustainable_development_goals_aurora":[{"display_name":"Zero hunger","id":"https://metadata.un.org/sdg/2","score":0.6100000143051147}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/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/W1529010561","https://openalex.org/W2357453246","https://openalex.org/W2936272489","https://openalex.org/W2410662158","https://openalex.org/W2005557667","https://openalex.org/W2100738249","https://openalex.org/W3168212168","https://openalex.org/W2063795526","https://openalex.org/W203359011","https://openalex.org/W1562230503"],"abstract_inverted_index":{"DNA":[0],"for":[1,24,73,234,441],"this":[2,211,371],"study":[3],"was":[4,63,157,181,232,282,294],"collected":[5],"from":[6,65,326],"a":[7,90,117,184,192,327,340,364,399],"sample":[8],"of":[9,30,33,48,92,112,143,166,215,251,287,300,331,337,355,359,370,382,402,426,445],"133":[10],"retinitis":[11,49],"pigmentosa":[12,50],"(RP)":[13],"patients":[14,31,44,235,242,257,268,305,334],"and":[15,23,42,87,123,138,168,189,202,228,260,266,271,313,428],"the":[16,68,77,144,249,252,288,291,298,301,332,344,360,368,380,392,405,415,442],"rhodopsin":[17,62,78,221,292,345,446],"locus":[18],"molecularly":[19],"analyzed":[20],"by":[21,398,457],"linkage":[22,66],"disease":[25,69,253,302],"specific":[26],"mutations.":[27,222,239,403],"The":[28,154,178,240,277,285,319,347],"cohort":[29],"consisted":[32],"85":[34],"individuals":[35,162],"diagnosed":[36,245,261,272],"with":[37,60,163,186,236,246,255,262,273,279,297,385],"autosomal":[38,434],"dominant":[39],"RP":[40,188,281,436,451],"(adRP),":[41],"48":[43],"representing":[45],"other":[46,424],"forms":[47],"or":[51],"retinal":[52],"dystrophy":[53],"related":[54],"disease.":[55],"In":[56],"three":[57,142],"large":[58],"families":[59],"adRP":[61,167,216,265,427],"excluded":[64],"to":[67,220,323,430,439,450],"locus.":[70,346],"A":[71],"search":[72],"subtle":[74],"mutations":[75,289,384,419,447],"in":[76,97,159,170,183,303,367,411,414,423,433,448],"coding":[79],"region":[80],"using":[81],"single":[82],"strand":[83],"conformational":[84],"polymorphisms":[85],"(SSCP)":[86],"sequencing":[88],"detected":[89],"total":[91],"14":[93],"unique":[94],"sequence":[95,362],"variants":[96,102,146],"24":[98],"unrelated":[99,161],"patients.":[100],"These":[101],"included":[103],"one":[104,109],"splicing":[105],"variant,":[106],"5168":[107,314],"-1G-A,":[108,315],"deletion":[110],"variant":[111,407],"17":[113],"base":[114],"pairs":[115],"causing":[116],"frame":[118],"shift":[119],"at":[120,343,386,391],"codon":[121],"332,":[122],"12":[124],"misense":[125],"variants:":[126],"Pro23His,":[127,310],"Leu46Arg,":[128,311],"Gly106Trp,":[129],"Arg135Pro,":[130],"Pro171Glu,":[131],"Pro180Ala,":[132],"Glu181Lys,":[133],"Asp190Asn,":[134],"His211Arg,":[135],"Ser270Arg,":[136],"Leu328Pro":[137],"Pro347Thr.":[139],"All":[140],"but":[141],"missense":[145],"change":[147,366],"amino":[148],"acids":[149],"that":[150,213],"are":[151,218,316,453],"evolutionarily":[152],"conserved.":[153],"Pro23His":[155,320],"mutation":[156,180,321,349],"found":[158],"10":[160],"family":[164,416],"histories":[165],"not":[169],"any":[171],"normal":[172,196],"controls":[173],"(over":[174],"80":[175],"chromosomes":[176],"tested).":[177],"Pro180Ala":[179],"present":[182],"patient":[185,278],"simplex":[187,280],"probably":[190],"represents":[191],"new":[193],"mutation.":[194],"Three":[195],"polymorphic":[197],"nucleotide":[198],"substitutions,":[199],"A-269-G,":[200],"T-3982-C,":[201],"G-5145-A,":[203],"were":[204,243],"also":[205],"identified.":[206],"We":[207],"conclude,":[208],"based":[209],"on":[210],"study,":[212],"25%":[214],"cases":[217,425],"attributable":[219],"Clinical":[223],"data,":[224],"including":[225],"ERG":[226],"results":[227],"visual":[229],"field":[230],"testing,":[231],"available":[233],"eleven":[237,241],"different":[238],"all":[244,336],"RP,":[247],"however":[248],"severity":[250,299],"varied":[254],"five":[256],"mildly":[258,283],"affected":[259,270,333],"type":[263,274],"II":[264],"5":[267],"severely":[269],"I":[275],"adRP.":[276],"affected.":[284],"location":[286],"within":[290],"protein":[293],"randomly":[295],"associated":[296],"those":[304],"evaluated.":[306],"However,":[307],"four":[308],"mutations,":[309],"Pro347Thr,":[312],"particularly":[317],"interesting.":[318],"appears":[322],"have":[324,420],"radiated":[325],"recent":[328],"common":[329,341],"ancestor":[330],"as":[335],"them":[338],"share":[339],"haplotype":[342],"Leu46Arg":[348],"causes":[350],"an":[351],"unusually":[352],"severe":[353],"form":[354],"RP.":[356],"Hydropathy":[357],"analysis":[358],"mutated":[361],"revealed":[363],"marked":[365],"hydrophobicity":[369],"first":[372],"transmembrane":[373],"spanning":[374],"region.":[375],"Codon":[376],"347":[377],"has":[378],"been":[379,421],"target":[381],"multiple":[383],"least":[387],"six":[388],"documented":[389],"changes":[390],"position,":[393],"significantly":[394],"more":[395],"than":[396],"expected":[397],"random":[400],"distribution":[401],"Finally":[404],"splice-site":[406],"is":[408],"extremely":[409],"variable":[410,443],"its":[412],"expression":[413,444],"studied.":[417],"Similar":[418],"reported":[422],"postulated":[429],"be":[431],"involved":[432],"recessive":[435],"(arRP).":[437],"Mechanisms":[438],"account":[440],"relation":[449],"heterogeneity":[452],"discussed.":[454],"(Abstract":[455],"shortened":[456],"UMI.)":[458]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2016-06-24T00:00:00"}