{"id":"https://openalex.org/W2040697100","doi":"https://doi.org/10.1126/science.6178163","title":"Deficiency of Functional Messenger RNA for a Developmentally Regulated \u03b2-Crystallin Polypeptide in a Hereditary Cataract","display_name":"Deficiency of Functional Messenger RNA for a Developmentally Regulated \u03b2-Crystallin Polypeptide in a Hereditary Cataract","publication_year":1982,"publication_date":"1982-07-30","ids":{"openalex":"https://openalex.org/W2040697100","doi":"https://doi.org/10.1126/science.6178163","mag":"2040697100","pmid":"https://pubmed.ncbi.nlm.nih.gov/6178163"},"language":"en","primary_location":{"id":"doi:10.1126/science.6178163","doi":"https://doi.org/10.1126/science.6178163","is_oa":false,"landing_page_url":"https://doi.org/10.1126/science.6178163","pdf_url":null,"source":{"id":"https://openalex.org/S3880285","display_name":"Science","issn_l":"0036-8075","issn":["0036-8075","0193-4511","1095-9203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315823","host_organization_name":"American Association for the Advancement of Science","host_organization_lineage":["https://openalex.org/P4310315823"],"host_organization_lineage_names":["American Association for the Advancement of Science"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5065773364","display_name":"Deborah A. Carper","orcid":"https://orcid.org/0000-0002-8084-681X","observed_orcids":["https://orcid.org/0000-0002-8084-681X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Deborah Carper","raw_affiliation_strings":["Laboratory of Vision Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20205"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Vision Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20205","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021530758","display_name":"Toshimichi Shinohara","orcid":"https://orcid.org/0000-0002-7197-9039","observed_orcids":["https://orcid.org/0000-0002-7197-9039"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Toshimichi Shinohara","raw_affiliation_strings":["Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067297656","display_name":"Joram Piatigorsky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joram Piatigorsky","raw_affiliation_strings":["Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108477928","display_name":"Jin H. Kinoshita","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jin H. Kinoshita","raw_affiliation_strings":["Laboratory of Vision Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20205"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Vision Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20205","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.0606,"has_fulltext":false,"cited_by_count":47,"citation_normalized_percentile":{"value":0.92328088,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"217","issue":"4558","first_page":"463","last_page":"464"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11480","display_name":"Connexins and lens biology","score":0.9312000274658203,"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/T11480","display_name":"Connexins and lens biology","score":0.9312000274658203,"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/T10934","display_name":"Heat shock proteins research","score":0.01209999993443489,"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":0.011699999682605267,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-cataract","display_name":"hereditary cataract","score":0.8679999709129333},{"id":"https://openalex.org/keywords/beta-crystallin","display_name":"beta-crystallin","score":0.9169999957084656},{"id":"https://openalex.org/keywords/lens-development","display_name":"lens development","score":0.8650000095367432},{"id":"https://openalex.org/keywords/developmental-regulation","display_name":"developmental regulation","score":0.5249999761581421},{"id":"https://openalex.org/keywords/transcriptional-defects","display_name":"transcriptional defects","score":0.8550000190734863}],"concepts":[{"id":"https://openalex.org/C7263354","wikidata":"https://www.wikidata.org/wiki/Q2992167","display_name":"Crystallin","level":2,"score":0.8769416809082031},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.767237663269043},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.5812589526176453},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5807619094848633},{"id":"https://openalex.org/C149364088","wikidata":"https://www.wikidata.org/wiki/Q185917","display_name":"Translation (biology)","level":4,"score":0.5488654971122742},{"id":"https://openalex.org/C3675279","wikidata":"https://www.wikidata.org/wiki/Q211935","display_name":"Protein biosynthesis","level":2,"score":0.44336459040641785},{"id":"https://openalex.org/C15336307","wikidata":"https://www.wikidata.org/wiki/Q1766051","display_name":"Lens (geology)","level":2,"score":0.4343085289001465},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4313570261001587},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34217536449432373},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26858288049697876},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002386","descriptor_name":"Cataract","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002474","descriptor_name":"Cell-Free System","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003433","descriptor_name":"Crosses, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003459","descriptor_name":"Crystallins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008815","descriptor_name":"Mice, Inbred Strains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014176","descriptor_name":"Protein Biosynthesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1126/science.6178163","doi":"https://doi.org/10.1126/science.6178163","is_oa":false,"landing_page_url":"https://doi.org/10.1126/science.6178163","pdf_url":null,"source":{"id":"https://openalex.org/S3880285","display_name":"Science","issn_l":"0036-8075","issn":["0036-8075","0193-4511","1095-9203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315823","host_organization_name":"American Association for the Advancement of Science","host_organization_lineage":["https://openalex.org/P4310315823"],"host_organization_lineage_names":["American Association for the Advancement of Science"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science","raw_type":"journal-article"},{"id":"pmid:6178163","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6178163","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":"Science (New York, N.Y.)","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.504800021648407}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W1538106674","https://openalex.org/W1968997934","https://openalex.org/W1975343100","https://openalex.org/W1990541190","https://openalex.org/W1991310329","https://openalex.org/W1991806452","https://openalex.org/W1993703592","https://openalex.org/W1993832581","https://openalex.org/W2004862995","https://openalex.org/W2015878392","https://openalex.org/W2018608540","https://openalex.org/W2049670319","https://openalex.org/W2050087590","https://openalex.org/W2052264293","https://openalex.org/W2068838985","https://openalex.org/W2100837269","https://openalex.org/W2108317548","https://openalex.org/W2163695122"],"related_works":["https://openalex.org/W1980959334","https://openalex.org/W1990541190","https://openalex.org/W2029636668","https://openalex.org/W1548545520","https://openalex.org/W1762051151","https://openalex.org/W2011914302","https://openalex.org/W1982687222","https://openalex.org/W2004862995","https://openalex.org/W7217896330","https://openalex.org/W2036114391"],"abstract_inverted_index":{"The":[0,44,63],"messenger":[1,69],"RNA":[2,70],"for":[3,77],"a":[4,8,84],"beta-crystallin":[5,54,68],"polypeptide":[6,55],"with":[7,40],"molecular":[9],"size":[10],"of":[11,51,60,65],"27":[12],"kilodaltons,":[13],"first":[14],"detected":[15,34],"5":[16],"to":[17,83],"10":[18],"days":[19],"after":[20],"birth":[21],"in":[22,35,42,90],"the":[23,28,36,52,61,72,78],"normal":[24],"mouse":[25,30,38],"lens":[26,47,80],"and":[27,56,81],"Nakano":[29],"cataract,":[31],"was":[32],"not":[33],"Philly":[37,46,79],"cataract":[39],"translation":[41],"vitro.":[43],"heterozygous":[45],"had":[48],"intermediate":[49],"levels":[50],"27-kilodalton":[53,67],"exhibited":[57],"delayed":[58],"onset":[59],"cataract.":[62,93],"deficiency":[64],"functional":[66],"is":[71],"earliest":[73],"lesion":[74],"reported":[75],"yet":[76],"points":[82],"transcriptional":[85],"or":[86],"posttranscriptional":[87],"developmental":[88],"defect":[89],"this":[91],"hereditary":[92]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
