{"id":"https://openalex.org/W4385983765","doi":"https://doi.org/10.7554/elife.87147.3.sa3","title":"Author Response: Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms","display_name":"Author Response: Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms","publication_year":2023,"publication_date":"2023-08-18","ids":{"openalex":"https://openalex.org/W4385983765","doi":"https://doi.org/10.7554/elife.87147.3.sa3"},"language":"en","primary_location":{"id":"doi:10.7554/elife.87147.3.sa3","doi":"https://doi.org/10.7554/elife.87147.3.sa3","is_oa":true,"landing_page_url":"https://doi.org/10.7554/elife.87147.3.sa3","pdf_url":null,"source":{"id":"https://openalex.org/S1336409049","display_name":"eLife","issn_l":"2050-084X","issn":["2050-084X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311710","host_organization_name":"eLife Sciences Publications Ltd","host_organization_lineage":["https://openalex.org/P4310311710"],"host_organization_lineage_names":["eLife Sciences Publications Ltd"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"peer-review"},"volume":null,"type":"peer-review","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.7554/elife.87147.3.sa3","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080560231","display_name":"Yiqiao Zheng","orcid":"https://orcid.org/0000-0003-4133-0439","observed_orcids":["https://orcid.org/0000-0003-4133-0439"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yiqiao Zheng","raw_affiliation_strings":["Molecular Genetic and Genomics Graduate Program, Division of Biological and Biomedical Sciences, Washington University in St Louis"],"raw_orcid":"https://orcid.org/0000-0003-4133-0439","affiliations":[{"raw_affiliation_string":"Molecular Genetic and Genomics Graduate Program, Division of Biological and Biomedical Sciences, Washington University in St Louis","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101862335","display_name":"Chi Sun","orcid":"https://orcid.org/0000-0003-0656-3333","observed_orcids":["https://orcid.org/0000-0003-0656-3333"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chi Sun","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences, Washington University in St Louis"],"raw_orcid":"https://orcid.org/0000-0003-0656-3333","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences, Washington University in St Louis","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Xiaodong Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiaodong Zhang","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences, Washington University in St Louis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences, Washington University in St Louis","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091539242","display_name":"Philip A. Ruzycki","orcid":"https://orcid.org/0000-0003-3520-6407","observed_orcids":["https://orcid.org/0000-0003-3520-6407"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Philip A. Ruzycki","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences, Washington University in St Louis"],"raw_orcid":"https://orcid.org/0000-0003-3520-6407","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences, Washington University in St Louis","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101899617","display_name":"Shiming Chen","orcid":"https://orcid.org/0000-0002-9299-5767","observed_orcids":["https://orcid.org/0000-0002-9299-5767"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shiming Chen","raw_affiliation_strings":["Molecular Genetic and Genomics Graduate Program, Division of Biological and Biomedical Sciences, Washington University in St Louis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Genetic and Genomics Graduate Program, Division of Biological and Biomedical Sciences, Washington University in St Louis","institution_ids":["https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I204465549"],"apc_list":{"value":3000,"currency":"USD","value_usd":2500},"apc_paid":{"value":3000,"currency":"USD","value_usd":2500},"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":1.0,"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":1.0,"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/T12989","display_name":"Ocular Disorders and Treatments","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"}},{"id":"https://openalex.org/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.0,"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/crx","display_name":"CRX","score":0.9430000185966492},{"id":"https://openalex.org/keywords/homeodomain-transcription-factor","display_name":"homeodomain transcription factor","score":0.8450000286102295},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9139999747276306},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7940000295639038},{"id":"https://openalex.org/keywords/photoreceptor-development","display_name":"photoreceptor development","score":0.7329999804496765},{"id":"https://openalex.org/keywords/transcriptional-activation","display_name":"transcriptional activation","score":0.6290000081062317},{"id":"https://openalex.org/keywords/dna-binding-specificity","display_name":"DNA binding specificity","score":0.984000027179718},{"id":"https://openalex.org/keywords/knock-in-mice","display_name":"knock-in mice","score":0.6980000138282776},{"id":"https://openalex.org/keywords/transcriptional-regulation","display_name":"transcriptional regulation","score":0.6660000085830688}],"concepts":[{"id":"https://openalex.org/C121587040","wikidata":"https://www.wikidata.org/wiki/Q898769","display_name":"Homeobox","level":4,"score":0.8793420195579529},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7310997843742371},{"id":"https://openalex.org/C1292079","wikidata":"https://www.wikidata.org/wiki/Q3817769","display_name":"Transactivation","level":4,"score":0.7089465260505676},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6778019070625305},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.6480573415756226},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5506092309951782},{"id":"https://openalex.org/C97037327","wikidata":"https://www.wikidata.org/wiki/Q5334291","display_name":"Ectopic expression","level":3,"score":0.5459836721420288},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.509606122970581},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.46275803446769714},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4463193714618683},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4408479630947113},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.35933825373649597}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.7554/elife.87147.3.sa3","doi":"https://doi.org/10.7554/elife.87147.3.sa3","is_oa":true,"landing_page_url":"https://doi.org/10.7554/elife.87147.3.sa3","pdf_url":null,"source":{"id":"https://openalex.org/S1336409049","display_name":"eLife","issn_l":"2050-084X","issn":["2050-084X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311710","host_organization_name":"eLife Sciences Publications Ltd","host_organization_lineage":["https://openalex.org/P4310311710"],"host_organization_lineage_names":["eLife Sciences Publications Ltd"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"peer-review"}],"best_oa_location":{"id":"doi:10.7554/elife.87147.3.sa3","doi":"https://doi.org/10.7554/elife.87147.3.sa3","is_oa":true,"landing_page_url":"https://doi.org/10.7554/elife.87147.3.sa3","pdf_url":null,"source":{"id":"https://openalex.org/S1336409049","display_name":"eLife","issn_l":"2050-084X","issn":["2050-084X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311710","host_organization_name":"eLife Sciences Publications Ltd","host_organization_lineage":["https://openalex.org/P4310311710"],"host_organization_lineage_names":["eLife Sciences Publications Ltd"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"peer-review"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4366988571","https://openalex.org/W7167210337","https://openalex.org/W4405711430","https://openalex.org/W2023408803","https://openalex.org/W2100832108","https://openalex.org/W2148606019","https://openalex.org/W1546272124","https://openalex.org/W2088971692","https://openalex.org/W2499586131","https://openalex.org/W2027066480"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2023-08-19T00:00:00"}
