{"id":"https://openalex.org/W3014648973","doi":"https://doi.org/10.1371/journal.pcbi.1007749","title":"Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel","display_name":"Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel","publication_year":2020,"publication_date":"2020-04-06","ids":{"openalex":"https://openalex.org/W3014648973","doi":"https://doi.org/10.1371/journal.pcbi.1007749","mag":"3014648973","pmid":"https://pubmed.ncbi.nlm.nih.gov/32251469"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1007749","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007749","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007749&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007749&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067556304","display_name":"Luca Ponzoni","orcid":"https://orcid.org/0000-0001-8125-582X"},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luca Ponzoni","raw_affiliation_strings":["Department of Computational and Systems Biology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Computational and Systems Biology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106916373","display_name":"Nga H. Nguyen","orcid":"https://orcid.org/0000-0002-7629-0601"},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nga H. Nguyen","raw_affiliation_strings":["Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081814496","display_name":"\u0130vet Bahar","orcid":"https://orcid.org/0000-0001-9959-4176"},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ivet Bahar","raw_affiliation_strings":["Department of Computational and Systems Biology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Computational and Systems Biology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004896108","display_name":"Jeffrey L. Brodsky","orcid":"https://orcid.org/0000-0002-6984-8486"},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jeffrey L. Brodsky","raw_affiliation_strings":["Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I170201317"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5004896108","https://openalex.org/A5081814496"],"corresponding_institution_ids":["https://openalex.org/I170201317"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":0.585,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.64596944,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":97},"biblio":{"volume":"16","issue":"4","first_page":"e1007749","last_page":"e1007749"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9940000176429749,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9940000176429749,"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/T10493","display_name":"Ion channel regulation and function","score":0.9919000267982483,"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/T12579","display_name":"Muon and positron interactions and applications","score":0.9908000230789185,"subfield":{"id":"https://openalex.org/subfields/2211","display_name":"Mechanics of Materials"},"field":{"id":"https://openalex.org/fields/22","display_name":"Engineering"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/missense-mutation","display_name":"Missense mutation","score":0.7463616132736206},{"id":"https://openalex.org/keywords/potassium-channel","display_name":"Potassium channel","score":0.6547582745552063},{"id":"https://openalex.org/keywords/potassium","display_name":"Potassium","score":0.43038302659988403},{"id":"https://openalex.org/keywords/chemistry","display_name":"Chemistry","score":0.35112226009368896},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2994921803474426},{"id":"https://openalex.org/keywords/biophysics","display_name":"Biophysics","score":0.22622457146644592},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.22155264019966125},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.1872396171092987},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.10913091897964478}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7463616132736206},{"id":"https://openalex.org/C83743174","wikidata":"https://www.wikidata.org/wiki/Q423778","display_name":"Potassium channel","level":2,"score":0.6547582745552063},{"id":"https://openalex.org/C517785266","wikidata":"https://www.wikidata.org/wiki/Q703","display_name":"Potassium","level":2,"score":0.43038302659988403},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.35112226009368896},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2994921803474426},{"id":"https://openalex.org/C12554922","wikidata":"https://www.wikidata.org/wiki/Q7100","display_name":"Biophysics","level":1,"score":0.22622457146644592},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22155264019966125},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.1872396171092987},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10913091897964478},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001477","descriptor_name":"Bartter Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001477","descriptor_name":"Bartter Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001477","descriptor_name":"Bartter Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001477","descriptor_name":"Bartter Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001477","descriptor_name":"Bartter Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001477","descriptor_name":"Bartter Syndrome","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011188","descriptor_name":"Potassium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011188","descriptor_name":"Potassium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011188","descriptor_name":"Potassium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012441","descriptor_name":"Saccharomyces cerevisiae","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012441","descriptor_name":"Saccharomyces cerevisiae","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012441","descriptor_name":"Saccharomyces cerevisiae","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1371/journal.pcbi.1007749","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007749","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007749&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:32251469","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32251469","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,"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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:doaj.org/article:0487c1f81a1847eaa979102ea2265a93","is_oa":true,"landing_page_url":"https://doaj.org/article/0487c1f81a1847eaa979102ea2265a93","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 16, Iss 4, p e1007749 (2020)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/12088851","is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Complementary_computational_and_experimental_evaluation_of_missense_variants_in_the_ROMK_potassium_channel/12088851","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"pmh:oai:pubmedcentral.nih.gov:7162551","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7162551","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"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","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1007749","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007749","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007749&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G3104744183","display_name":null,"funder_award_id":"P41GM103712","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3758129415","display_name":null,"funder_award_id":"R35GM131732","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4329929051","display_name":null,"funder_award_id":"P30DK079307","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6347617425","display_name":null,"funder_award_id":"P30DA035778","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3014648973.pdf","grobid_xml":"https://content.openalex.org/works/W3014648973.grobid-xml"},"referenced_works_count":59,"referenced_works":["https://openalex.org/W1483456869","https://openalex.org/W1524008445","https://openalex.org/W1563940013","https://openalex.org/W1866554497","https://openalex.org/W1948910101","https://openalex.org/W1978889370","https://openalex.org/W1994127362","https://openalex.org/W2007085691","https://openalex.org/W2013778979","https://openalex.org/W2016555254","https://openalex.org/W2021583402","https://openalex.org/W2037244538","https://openalex.org/W2059145105","https://openalex.org/W2074886474","https://openalex.org/W2097666362","https://openalex.org/W2101941602","https://openalex.org/W2102725267","https://openalex.org/W2112596406","https://openalex.org/W2118265845","https://openalex.org/W2123369578","https://openalex.org/W2125583308","https://openalex.org/W2132644497","https://openalex.org/W2142595184","https://openalex.org/W2144257031","https://openalex.org/W2156588647","https://openalex.org/W2161227647","https://openalex.org/W2161935988","https://openalex.org/W2164642232","https://openalex.org/W2168798454","https://openalex.org/W2171419407","https://openalex.org/W2174602966","https://openalex.org/W2212726854","https://openalex.org/W2217423704","https://openalex.org/W2245592118","https://openalex.org/W2277372316","https://openalex.org/W2344026390","https://openalex.org/W2474605288","https://openalex.org/W2589123659","https://openalex.org/W2706832864","https://openalex.org/W2728165287","https://openalex.org/W2734861826","https://openalex.org/W2765251657","https://openalex.org/W2783559466","https://openalex.org/W2788439305","https://openalex.org/W2792977793","https://openalex.org/W2796386151","https://openalex.org/W2801491392","https://openalex.org/W2804822363","https://openalex.org/W2810115285","https://openalex.org/W2893176359","https://openalex.org/W2943498532","https://openalex.org/W2949250633","https://openalex.org/W3007271099","https://openalex.org/W3102341076","https://openalex.org/W4234714728","https://openalex.org/W4252449844","https://openalex.org/W4252651210","https://openalex.org/W6640717727","https://openalex.org/W6669292501"],"related_works":["https://openalex.org/W4387497383","https://openalex.org/W2948807893","https://openalex.org/W2778153218","https://openalex.org/W2748952813","https://openalex.org/W1531601525","https://openalex.org/W4391375266","https://openalex.org/W2078814861","https://openalex.org/W2026674566","https://openalex.org/W1830472992","https://openalex.org/W1985964927"],"abstract_inverted_index":{"The":[0],"renal":[1],"outer":[2],"medullary":[3],"potassium":[4,10],"(ROMK)":[5],"channel":[6],"is":[7,18],"essential":[8],"for":[9,149],"transport":[11],"in":[12,41,85,144,152,168,210],"the":[13,38,90,137,156,194,205],"kidney,":[14],"and":[15,58,109,127,162,189,201],"its":[16,29],"dysfunction":[17],"associated":[19],"with":[20],"a":[21,34,53,66,112,172],"salt-wasting":[22],"disorder":[23],"known":[24,117],"as":[25,118],"Bartter":[26,45],"syndrome.":[27],"Despite":[28],"physiological":[30],"significance,":[31],"we":[32,51,83],"lack":[33],"mechanistic":[35],"understanding":[36],"of":[37,68,72,92,139,159,180,196,207],"molecular":[39],"defects":[40],"ROMK":[42,169],"underlying":[43],"most":[44],"syndrome-associated":[46],"mutations.":[47],"To":[48],"this":[49],"end,":[50],"employed":[52,111],"ROMK-dependent":[54],"yeast":[55],"growth":[56],"assay":[57],"tested":[59],"single":[60,95,140],"amino":[61,96,141,198],"acid":[62,97,142,199],"variants":[63,143,166],"selected":[64,150],"by":[65],"series":[67],"computational":[69,184],"tools":[70],"representative":[71],"different":[73,153],"approaches":[74,185],"to":[75,103,132,192],"predict":[76,193],"each":[77],"variants'":[78],"pathogenicity.":[79],"In":[80],"one":[81],"approach,":[82],"used":[84,122],"silico":[86],"saturation":[87],"mutagenesis,":[88],"i.e.":[89],"scanning":[91],"all":[93,100],"possible":[94],"substitutions":[98],"at":[99],"sequence":[101],"positions":[102],"estimate":[104],"their":[105],"impact":[106],"on":[107,136],"function,":[108],"then":[110],"new":[113],"machine":[114],"learning":[115],"classifier":[116],"Rhapsody.":[119],"We":[120],"also":[121],"two":[123],"additional":[124],"tools,":[125],"EVmutation":[126],"Polyphen-2,":[128],"which":[129],"permitted":[130],"us":[131],"make":[133],"consensus":[134],"predictions":[135,161],"pathogenicity":[138],"ROMK.":[145],"Experimental":[146],"tests":[147],"performed":[148],"mutants":[151],"classes":[154],"validated":[155],"vast":[157],"majority":[158],"our":[160,175],"provided":[163],"insights":[164],"into":[165],"implicated":[167],"dysfunction.":[170],"On":[171],"broader":[173],"scope,":[174],"analysis":[176],"suggests":[177],"that":[178],"consolidation":[179],"data":[181],"from":[182],"complementary":[183],"provides":[186],"an":[187,197],"improved":[188],"facile":[190],"method":[191],"severity":[195],"substitution":[200],"may":[202],"help":[203],"accelerate":[204],"identification":[206],"disease-causing":[208],"mutations":[209],"any":[211],"protein.":[212]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":2}],"updated_date":"2026-04-09T08:11:56.329763","created_date":"2025-10-10T00:00:00"}
