{"id":"https://openalex.org/W2350853133","doi":null,"title":"The 5' flanking sequence of the human retGC1 gene acquires a photoreceptor cell restricted activity pattern over the course of retinal development.","display_name":"The 5' flanking sequence of the human retGC1 gene acquires a photoreceptor cell restricted activity pattern over the course of retinal development.","publication_year":2004,"publication_date":"2004-10-06","ids":{"openalex":"https://openalex.org/W2350853133","mag":"2350853133","pmid":"https://pubmed.ncbi.nlm.nih.gov/15480301"},"language":"en","primary_location":{"id":"pmid:15480301","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15480301","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/A5059842123","display_name":"Jason E. Coleman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jason E Coleman","raw_affiliation_strings":["Department of Neuroscience, University of Florida McKnight Brain Institute and College of Medicine, Gainesville, FL 32610-0255, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, University of Florida McKnight Brain Institute and College of Medicine, Gainesville, FL 32610-0255, USA","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102863052","display_name":"Kebin Wu","orcid":"https://orcid.org/0000-0001-9713-1063","observed_orcids":["https://orcid.org/0000-0001-9713-1063"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kebin Wu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087549763","display_name":"Hans\u2010J\u00fcrgen F\u00fclle","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hans J\u00fcrgen F\u00fclle","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5082544318","display_name":"Susan L. Semple\u2010Rowland","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Susan L Semple-Rowland","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":0.6826,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.75594653,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"10","issue":null,"first_page":"720","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9984999895095825,"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/T10691","display_name":"Retinal Development and Disorders","score":0.9984999895095825,"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/T10613","display_name":"Virus-based gene therapy research","score":0.0010000000474974513,"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/T10725","display_name":"RNA Interference and Gene Delivery","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/5-flanking-region","display_name":"5'-flanking region","score":0.878000020980835},{"id":"https://openalex.org/keywords/promoter","display_name":"promoter","score":0.5519999861717224},{"id":"https://openalex.org/keywords/retinal-development","display_name":"retinal development","score":0.9319999814033508},{"id":"https://openalex.org/keywords/cone-rod-dystrophy","display_name":"cone-rod dystrophy","score":0.9610000252723694},{"id":"https://openalex.org/keywords/lentiviral-vectors","display_name":"lentiviral vectors","score":0.7149999737739563},{"id":"https://openalex.org/keywords/intron-1","display_name":"intron 1","score":0.8309999704360962},{"id":"https://openalex.org/keywords/gene-silencing","display_name":"gene silencing","score":0.5870000123977661},{"id":"https://openalex.org/keywords/transgene-expression","display_name":"transgene expression","score":0.37400001287460327}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7857298851013184},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5619149804115295},{"id":"https://openalex.org/C119056186","wikidata":"https://www.wikidata.org/wiki/Q1431332","display_name":"Gene silencing","level":3,"score":0.558817982673645},{"id":"https://openalex.org/C102230213","wikidata":"https://www.wikidata.org/wiki/Q430117","display_name":"Transgene","level":3,"score":0.5489301681518555},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5389694571495056},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.5010466575622559},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4855351448059082},{"id":"https://openalex.org/C161733203","wikidata":"https://www.wikidata.org/wiki/Q911828","display_name":"Reporter gene","level":4,"score":0.47820520401000977},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4524955153465271},{"id":"https://openalex.org/C2780916184","wikidata":"https://www.wikidata.org/wiki/Q748049","display_name":"Photoreceptor cell","level":3,"score":0.4353690445423126},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4234994649887085},{"id":"https://openalex.org/C186493320","wikidata":"https://www.wikidata.org/wiki/Q4639533","display_name":"5' flanking region","level":5,"score":0.41901588439941406},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.38146281242370605},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34036892652511597},{"id":"https://openalex.org/C101762097","wikidata":"https://www.wikidata.org/wiki/Q224093","display_name":"Promoter","level":4,"score":0.20780080556869507},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001616","descriptor_name":"beta-Galactosidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D002642","descriptor_name":"Chick Embryo","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005822","descriptor_name":"Genetic Vectors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006162","descriptor_name":"Guanylate Cyclase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006162","descriptor_name":"Guanylate Cyclase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010870","descriptor_name":"Pineal Gland","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011993","descriptor_name":"Recombinant Fusion Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D013234","descriptor_name":"Stem Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016086","descriptor_name":"Lentivirus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016386","descriptor_name":"Chromosome Walking","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018014","descriptor_name":"Gene Transfer Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018507","descriptor_name":"Gene Expression Regulation, Developmental","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D020419","descriptor_name":"Photoreceptor Cells, Vertebrate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D020868","descriptor_name":"Gene Silencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022202","descriptor_name":"Chromosomes, Artificial, Bacterial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024506","descriptor_name":"5' Flanking Region","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:15480301","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15480301","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:2350853133","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15480301","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":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1218626370","display_name":"Rescue of GUCY1*B Phenotype Using Somatic Gene Therapy","funder_award_id":"R01EY011388","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G1396024002","display_name":"Core Grant for Vision Research","funder_award_id":"P30EY003040","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G5262378246","display_name":"VISION RESEARCH CORE","funder_award_id":"P30EY008571","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000895450","display_name":"Research Training in Vision Science","funder_award_id":"T32EY007132","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W73310602","https://openalex.org/W1512108330","https://openalex.org/W1552714324","https://openalex.org/W1865646779","https://openalex.org/W1914786390","https://openalex.org/W1969755572","https://openalex.org/W1977130958","https://openalex.org/W1989352995","https://openalex.org/W1989566939","https://openalex.org/W1999496422","https://openalex.org/W1999852582","https://openalex.org/W2000490360","https://openalex.org/W2003650919","https://openalex.org/W2008485465","https://openalex.org/W2022911879","https://openalex.org/W2040943511","https://openalex.org/W2048243902","https://openalex.org/W2048485771","https://openalex.org/W2048965038","https://openalex.org/W2053204895","https://openalex.org/W2055323528","https://openalex.org/W2065067674","https://openalex.org/W2086975066","https://openalex.org/W2087280841","https://openalex.org/W2102487851","https://openalex.org/W2105657039","https://openalex.org/W2111993777","https://openalex.org/W2118846517","https://openalex.org/W2140034535","https://openalex.org/W2163822888","https://openalex.org/W2165170253","https://openalex.org/W2169776140","https://openalex.org/W2314470532"],"related_works":["https://openalex.org/W1552714324","https://openalex.org/W1524473059","https://openalex.org/W2072440756","https://openalex.org/W2558995374","https://openalex.org/W199169081","https://openalex.org/W2314470532","https://openalex.org/W1002384144","https://openalex.org/W2149667682","https://openalex.org/W2081866115","https://openalex.org/W1992706077"],"abstract_inverted_index":{"PURPOSE:":[0],"Specific":[1],"mutations":[2],"of":[3,54,56,77,107,115,123,142,149,154,171,182,200,238,251],"the":[4,47,57,78,108,113,118,121,127,143,169,178,197,228,247,254],"retinal":[5,104,201],"guanylyl":[6],"cyclase-1":[7],"(retGC1)":[8],"gene":[9,89,240],"have":[10,205],"been":[11],"linked":[12],"to":[13,29,83,102,135,158],"Leber":[14],"congenital":[15],"amaurosis":[16],"type":[17],"1":[18],"(LCA1)":[19],"and":[20,50,125,130,163],"cone-rod":[21],"dystrophies":[22],"in":[23,63,117,126,161,188,193,218,227,235,241,253],"humans,":[24],"diseases":[25],"that":[26,177,212,223],"are":[27],"amenable":[28],"treatments":[30],"using":[31],"molecular":[32],"based":[33],"therapies.":[34],"As":[35],"a":[36,40,84,207,233],"step":[37],"towards":[38],"developing":[39,109],"therapeutic":[41],"transgene":[42],"for":[43],"LCA1,":[44],"we":[45],"analyzed":[46],"cell":[48,179,215],"specific":[49,180,216],"developmental":[51],"activity":[52,165,181,217],"profiles":[53],"fragments":[55,76],"human":[58,79,208],"retGC1":[59,80,144,209],"5'":[60,145],"flanking":[61,146],"region":[62,147],"vivo.":[64,219],"METHODS:":[65],"We":[66,111,174,204],"generated":[67],"self":[68],"inactivating":[69],"lentiviral":[70,96],"vector":[71],"constructs":[72],"carrying":[73],"three":[74],"different":[75],"promoter":[81,210,230],"fused":[82],"nuclear":[85],"localized":[86],"beta-galactosidase":[87],"reporter":[88],"(nlacZ).":[90],"The":[91],"transgenes":[92],"were":[93,99],"packaged":[94],"into":[95],"vectors,":[97],"which":[98],"then":[100],"used":[101],"transduce":[103],"progenitor":[105],"cells":[106,160,195],"chick.":[110],"monitored":[112],"expression":[114,157,192,237,249],"nlacZ":[116,156],"retina":[119],"over":[120],"course":[122],"development":[124],"retina,":[128],"brain":[129],"pineal":[131],"gland":[132],"just":[133],"prior":[134],"hatching.":[136],"RESULTS:":[137],"A":[138],"1.8":[139],"kb":[140],"fragment":[141,184,211],"upstream":[148],"Exon":[150],"2":[151],"was":[152,166],"capable":[153],"targeting":[155],"photoreceptor":[159,214],"vivo":[162],"its":[164],"augmented":[167],"by":[168,190,245],"presence":[170],"intron":[172],"1.":[173],"also":[175],"demonstrated":[176],"this":[183,239],"arises,":[185],"at":[186],"least":[187],"part,":[189],"silencing":[191,236],"non-photoreceptor":[194,242],"during":[196],"final":[198],"stages":[199],"development.":[202],"CONCLUSIONS:":[203],"identified":[206],"exhibits":[213],"Our":[220],"results":[221],"suggest":[222],"an":[224],"element":[225],"located":[226],"proximal":[229],"may":[231],"play":[232],"role":[234],"cells,":[243],"thereby":[244],"shaping":[246],"restricted":[248],"pattern":[250],"GC1":[252],"retina.":[255]},"counts_by_year":[{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}