{"id":"https://openalex.org/W4415053674","doi":"https://doi.org/10.1016/j.premed.2025.100019","title":"Precision therapeutic tRNA rescue of nonsense mutation R166X in KCNJ13 to restore K+ channel function","display_name":"Precision therapeutic tRNA rescue of nonsense mutation R166X in KCNJ13 to restore K+ channel function","publication_year":2025,"publication_date":"2025-10-11","ids":{"openalex":"https://openalex.org/W4415053674","doi":"https://doi.org/10.1016/j.premed.2025.100019","pmid":"https://pubmed.ncbi.nlm.nih.gov/42415716","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13340877"},"language":"en","primary_location":{"id":"doi:10.1016/j.premed.2025.100019","doi":"https://doi.org/10.1016/j.premed.2025.100019","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.premed.2025.100019","pdf_url":"https://www.jprecisionmedicine.org/article/S3050-6328(25)00019-8/pdf","source":{"id":"https://openalex.org/S5407047433","display_name":"The Journal of Precision Medicine Health and Disease","issn_l":"3050-6328","issn":["3050-6328"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Precision Medicine: Health and Disease","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.jprecisionmedicine.org/article/S3050-6328(25)00019-8/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010461256","display_name":"Allison Spillane","orcid":"https://orcid.org/0009-0002-6483-4736","observed_orcids":["https://orcid.org/0009-0002-6483-4736"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Allison Spillane","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011251573","display_name":"Enes Aky\u00fcz","orcid":"https://orcid.org/0000-0002-3942-2097","observed_orcids":["https://orcid.org/0000-0002-3942-2097"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Enes Akyuz","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089275769","display_name":"Meha Kabra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Meha Kabra","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112400046","display_name":"Divya Sinha","orcid":"https://orcid.org/0009-0001-8088-6678","observed_orcids":["https://orcid.org/0009-0001-8088-6678"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Divya Sinha","raw_affiliation_strings":["University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","University of Wisconsin-Madison, Waisman Center, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, Waisman Center, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045726765","display_name":"Cheryl M. Soref","orcid":"https://orcid.org/0000-0003-2306-7569","observed_orcids":["https://orcid.org/0000-0003-2306-7569"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cheryl Soref","raw_affiliation_strings":["University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","University of Wisconsin-Madison, Waisman Center, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, Waisman Center, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Lionel Gissot","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lionel Gissot","raw_affiliation_strings":["University of Iowa, Carver College of Medicine, Department of Molecular Physiology and Biophysics, Iowa, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Iowa, Carver College of Medicine, Department of Molecular Physiology and Biophysics, Iowa, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092325090","display_name":"Ahmad Al Saneh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ahmad Al Saneh","raw_affiliation_strings":["University of Iowa, Carver College of Medicine, Department of Molecular Physiology and Biophysics, Iowa, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Iowa, Carver College of Medicine, Department of Molecular Physiology and Biophysics, Iowa, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5119944950","display_name":"Sanjai K. Pillala","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sanjai K. Pillala","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045680577","display_name":"Pawan Kumar Shahi","orcid":"https://orcid.org/0000-0003-0850-3078","observed_orcids":["https://orcid.org/0000-0003-0850-3078"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pawan K. Shahi","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087358894","display_name":"Krishanu Saha","orcid":"https://orcid.org/0000-0003-2837-0858","observed_orcids":["https://orcid.org/0000-0003-2837-0858"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Krishanu Saha","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Biomedical Engineering, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Biomedical Engineering, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063963894","display_name":"David M. Gamm","orcid":"https://orcid.org/0000-0002-8152-613X","observed_orcids":["https://orcid.org/0000-0002-8152-613X"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David M. Gamm","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Ophthalmology and Visual Sciences, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","University of Wisconsin-Madison, Waisman Center, Wisconsin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Ophthalmology and Visual Sciences, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, Waisman Center, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038268798","display_name":"Christopher A. Ahern","orcid":"https://orcid.org/0000-0002-7975-2744","observed_orcids":["https://orcid.org/0000-0002-7975-2744"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher A. Ahern","raw_affiliation_strings":["University of Iowa, Carver College of Medicine, Department of Molecular Physiology and Biophysics, Iowa, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Iowa, Carver College of Medicine, Department of Molecular Physiology and Biophysics, Iowa, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5034234543","display_name":"Bikash Ranjan Pattnaik","orcid":"https://orcid.org/0000-0002-5385-358X","observed_orcids":["https://orcid.org/0000-0002-5385-358X"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Bikash R. Pattnaik","raw_affiliation_strings":["University of Wisconsin-Madison, Department of Ophthalmology and Visual Sciences, Wisconsin, USA","University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA"],"raw_orcid":"https://orcid.org/0000-0002-5385-358X","affiliations":[{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Ophthalmology and Visual Sciences, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, Department of Pediatrics, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"University of Wisconsin-Madison, McPherson Eye Research Institute, Wisconsin, USA","institution_ids":["https://openalex.org/I135310074"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5034234543"],"corresponding_institution_ids":["https://openalex.org/I135310074"],"apc_list":{"value":3220,"currency":"USD","value_usd":3220},"apc_paid":{"value":3220,"currency":"USD","value_usd":3220},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.1767899,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"4","issue":null,"first_page":"100019","last_page":"100019"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.8359000086784363,"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":0.8359000086784363,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.04050000011920929,"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/T10725","display_name":"RNA Interference and Gene Delivery","score":0.024399999529123306,"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/kcnj13","display_name":"KCNJ13","score":0.9959999918937683},{"id":"https://openalex.org/keywords/kir7-1","display_name":"Kir7.1","score":0.8709999918937683},{"id":"https://openalex.org/keywords/leber-congenital-amaurosis","display_name":"Leber congenital amaurosis","score":0.8119999766349792},{"id":"https://openalex.org/keywords/potassium-channel-function","display_name":"potassium channel function","score":0.7710000276565552},{"id":"https://openalex.org/keywords/flp-frt-recombination","display_name":"FLP/FRT recombination","score":0.6520000100135803},{"id":"https://openalex.org/keywords/genome-editing","display_name":"genome editing","score":0.47600001096725464},{"id":"https://openalex.org/keywords/induced-pluripotent-stem-cells","display_name":"induced pluripotent stem cells","score":0.7850000262260437},{"id":"https://openalex.org/keywords/vision-loss","display_name":"vision loss","score":0.4869999885559082}],"concepts":[{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.7253999710083008},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6642000079154968},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6180999875068665},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5354999899864197},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5339999794960022},{"id":"https://openalex.org/C144501496","wikidata":"https://www.wikidata.org/wiki/Q5533489","display_name":"Genome editing","level":4,"score":0.48890000581741333},{"id":"https://openalex.org/C26567756","wikidata":"https://www.wikidata.org/wiki/Q2146845","display_name":"Suppressor mutation","level":4,"score":0.4625000059604645},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.454800009727478},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4244000017642975},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.41929998993873596},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.39739999175071716},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.38659998774528503},{"id":"https://openalex.org/C111829913","wikidata":"https://www.wikidata.org/wiki/Q211083","display_name":"Gene targeting","level":3,"score":0.38589999079704285},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.3727000057697296},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.3675000071525574},{"id":"https://openalex.org/C98108389","wikidata":"https://www.wikidata.org/wiki/Q412563","display_name":"CRISPR","level":3,"score":0.35010001063346863},{"id":"https://openalex.org/C70219777","wikidata":"https://www.wikidata.org/wiki/Q14911527","display_name":"Nonsense-mediated decay","level":5,"score":0.2989000082015991},{"id":"https://openalex.org/C161078062","wikidata":"https://www.wikidata.org/wiki/Q1068690","display_name":"Functional genomics","level":5,"score":0.296099990606308},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.2939999997615814},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.29350000619888306},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.2879999876022339},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.28459998965263367},{"id":"https://openalex.org/C166703698","wikidata":"https://www.wikidata.org/wiki/Q201993","display_name":"RNA interference","level":4,"score":0.27480000257492065},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.2696000039577484},{"id":"https://openalex.org/C153957851","wikidata":"https://www.wikidata.org/wiki/Q201448","display_name":"Transfer RNA","level":4,"score":0.2653999924659729},{"id":"https://openalex.org/C149364088","wikidata":"https://www.wikidata.org/wiki/Q185917","display_name":"Translation (biology)","level":4,"score":0.26429998874664307},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.25600001215934753},{"id":"https://openalex.org/C35802184","wikidata":"https://www.wikidata.org/wiki/Q204773","display_name":"Zinc finger nuclease","level":5,"score":0.2540999948978424},{"id":"https://openalex.org/C47289529","wikidata":"https://www.wikidata.org/wiki/Q908550","display_name":"Open reading frame","level":4,"score":0.2506999969482422},{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.25049999356269836},{"id":"https://openalex.org/C2910714999","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"INDEL Mutation","level":5,"score":0.2500999867916107}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1016/j.premed.2025.100019","doi":"https://doi.org/10.1016/j.premed.2025.100019","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.premed.2025.100019","pdf_url":"https://www.jprecisionmedicine.org/article/S3050-6328(25)00019-8/pdf","source":{"id":"https://openalex.org/S5407047433","display_name":"The Journal of Precision Medicine Health and Disease","issn_l":"3050-6328","issn":["3050-6328"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Precision Medicine: Health and Disease","raw_type":"journal-article"},{"id":"pmid:42415716","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42415716","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":"Journal of precision medicine (Amsterdam, Netherlands)","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13340877","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13340877/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Precis Med (Amst)","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1016/j.premed.2025.100019","doi":"https://doi.org/10.1016/j.premed.2025.100019","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.premed.2025.100019","pdf_url":"https://www.jprecisionmedicine.org/article/S3050-6328(25)00019-8/pdf","source":{"id":"https://openalex.org/S5407047433","display_name":"The Journal of Precision Medicine Health and Disease","issn_l":"3050-6328","issn":["3050-6328"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Precision Medicine: Health and Disease","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1236303967","display_name":null,"funder_award_id":"P50HD105353","funder_id":"https://openalex.org/F4320310178","funder_display_name":"Waisman Center"},{"id":"https://openalex.org/G9000870050","display_name":"UW Comprehensive Cancer Center Support","funder_award_id":"P30CA014520","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000871531","display_name":"Restoring Vision with High-Fidelity Nonsense Codon Correction","funder_award_id":"R24EY032434","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000878846","display_name":"Waisman Center Intellectual and Developmental Disabilities Research Center","funder_award_id":"P50HD105353","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320306811","display_name":"Research to Prevent Blindness","ror":"https://ror.org/04drjs621"},{"id":"https://openalex.org/F4320310178","display_name":"Waisman Center","ror":null},{"id":"https://openalex.org/F4320314525","display_name":"Retina Research Foundation","ror":"https://ror.org/05n2ytn05"},{"id":"https://openalex.org/F4320317763","display_name":"Discovery Institute","ror":"https://ror.org/05t8s3y29"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4415053674.pdf","grobid_xml":"https://content.openalex.org/works/W4415053674.grobid-xml"},"referenced_works_count":103,"referenced_works":["https://openalex.org/W1530764791","https://openalex.org/W1964630716","https://openalex.org/W1966822028","https://openalex.org/W1974853045","https://openalex.org/W1987339646","https://openalex.org/W1993599690","https://openalex.org/W1996971875","https://openalex.org/W2000794957","https://openalex.org/W2005330089","https://openalex.org/W2010595044","https://openalex.org/W2014456355","https://openalex.org/W2019129277","https://openalex.org/W2022628953","https://openalex.org/W2027799462","https://openalex.org/W2036649644","https://openalex.org/W2038305786","https://openalex.org/W2038527941","https://openalex.org/W2043692200","https://openalex.org/W2046014353","https://openalex.org/W2057657886","https://openalex.org/W2063318299","https://openalex.org/W2066841033","https://openalex.org/W2070636496","https://openalex.org/W2071682356","https://openalex.org/W2077708836","https://openalex.org/W2089468359","https://openalex.org/W2093888082","https://openalex.org/W2099252894","https://openalex.org/W2105039093","https://openalex.org/W2109276727","https://openalex.org/W2126330038","https://openalex.org/W2126780661","https://openalex.org/W2134259738","https://openalex.org/W2141036467","https://openalex.org/W2145970184","https://openalex.org/W2148419405","https://openalex.org/W2159149748","https://openalex.org/W2160346240","https://openalex.org/W2161227647","https://openalex.org/W2162430687","https://openalex.org/W2165425589","https://openalex.org/W2169847663","https://openalex.org/W2172912160","https://openalex.org/W2203807603","https://openalex.org/W2219577249","https://openalex.org/W2223836536","https://openalex.org/W2288972630","https://openalex.org/W2399249764","https://openalex.org/W2461013690","https://openalex.org/W2509775353","https://openalex.org/W2517104236","https://openalex.org/W2528751872","https://openalex.org/W2597379024","https://openalex.org/W2730585910","https://openalex.org/W2751076435","https://openalex.org/W2780862948","https://openalex.org/W2781815848","https://openalex.org/W2802383413","https://openalex.org/W2804566227","https://openalex.org/W2808575125","https://openalex.org/W2883250809","https://openalex.org/W2896913082","https://openalex.org/W2904334833","https://openalex.org/W2905535163","https://openalex.org/W2949070669","https://openalex.org/W2949980705","https://openalex.org/W2950733835","https://openalex.org/W2981137429","https://openalex.org/W3016125388","https://openalex.org/W3022691030","https://openalex.org/W3026509535","https://openalex.org/W3029669387","https://openalex.org/W3046580469","https://openalex.org/W3089756407","https://openalex.org/W3123331525","https://openalex.org/W3126298812","https://openalex.org/W3133862951","https://openalex.org/W3135625811","https://openalex.org/W3136150419","https://openalex.org/W3145074783","https://openalex.org/W3157344548","https://openalex.org/W3166303816","https://openalex.org/W3189447091","https://openalex.org/W4206584994","https://openalex.org/W4210773266","https://openalex.org/W4229041383","https://openalex.org/W4289341729","https://openalex.org/W4290673775","https://openalex.org/W4306684931","https://openalex.org/W4312095455","https://openalex.org/W4318559900","https://openalex.org/W4321483229","https://openalex.org/W4323666400","https://openalex.org/W4377042520","https://openalex.org/W4385741122","https://openalex.org/W4386797577","https://openalex.org/W4389306320","https://openalex.org/W4392499894","https://openalex.org/W4392553022","https://openalex.org/W4393325938","https://openalex.org/W4400242344","https://openalex.org/W4402848736","https://openalex.org/W4408116136"],"related_works":["https://openalex.org/W7164049965","https://openalex.org/W2901998174","https://openalex.org/W7170088103","https://openalex.org/W7160148543","https://openalex.org/W4283217769","https://openalex.org/W4285084414","https://openalex.org/W4385741122","https://openalex.org/W4412354412","https://openalex.org/W1987339646","https://openalex.org/W760695885"],"abstract_inverted_index":{"The":[0],"KCNJ13":[1,128],"gene":[2,57,129],"encodes":[3],"the":[4,43,82,105,122,131,142],"Kir7.1":[5],"protein,":[6],"and":[7,14,35,59,99,162],"mutations":[8,63],"cause":[9],"Leber's":[10],"Congenital":[11],"Amaurosis":[12],"(LCA)":[13],"Snowflake":[15],"Vitreoretinal":[16],"Degeneration":[17],"(SVD),":[18],"leading":[19],"to":[20,67,73,86,94,104,186],"early-onset":[21],"vision":[22],"loss.":[23],"One":[24],"such":[25],"nonsense":[26,45,62],"mutation,":[27],"R166X,":[28],"results":[29],"in":[30,96,146,169],"nystagmus,":[31],"poor":[32],"night":[33],"vision,":[34],"visual":[36],"impairment.":[37],"We":[38],"examined":[39],"therapeutic":[40],"options":[41],"for":[42],"R166X":[44,83,143],"point":[46],"mutation.":[47],"Unlike":[48],"missense":[49],"genetic":[50],"mutations,":[51],"which":[52],"can":[53,176],"be":[54,92],"rectified":[55],"by":[56,120],"augmentation":[58],"genome":[60,136,189],"editing,":[61],"provide":[64],"an":[65,111,150,167],"opportunity":[66],"test":[68],"additional":[69],"readthrough":[70,174],"therapies.":[71],"Attempts":[72],"produce":[74],"human":[75],"induced":[76],"pluripotent":[77],"stem":[78],"cells":[79],"(hiPSCs)":[80],"with":[81],"mutation":[84,144,182],"(CGA":[85],"TGA)":[87],"were":[88],"unsuccessful.":[89],"This":[90,164],"may":[91],"due":[93],"challenges":[95],"chromatin":[97],"structure":[98],"folding":[100],"that":[101,183],"hinder":[102],"access":[103],"targeted":[106],"loci.":[107],"Therefore,":[108],"we":[109],"constructed":[110],"open":[112],"reading":[113],"frame":[114],"(ORF)":[115],"stably":[116],"integrated":[117],"HEK293T":[118],"line":[119],"inserting":[121],"wild":[123],"type":[124],"(WT)":[125],"or":[126],"R166X-":[127],"using":[130],"FLP-FRT":[132],"recombinase":[133],"technique.":[134],"While":[135],"editing":[137],"strategies":[138,175],"did":[139],"not":[140],"repair":[141],"efficiently":[145],"this":[147],"cell":[148],"line,":[149],"arginine":[151],"anticodon-engineered":[152],"tRNA":[153],"(ACE-tRNA":[154],"Arg.UGA":[155],")":[156],"restored":[157],"K":[158],"+":[159],"channel":[160,178],"expression":[161],"function.":[163],"study":[165],"provides":[166],"example":[168],"precision":[170],"medicine":[171],"where":[172],"translational":[173],"rescue":[177],"function":[179],"at":[180],"a":[181],"is":[184],"difficult":[185],"correct":[187],"via":[188],"editing.":[190]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2025-10-11T00:00:00"}