{"id":"https://openalex.org/W2020741020","doi":"https://doi.org/10.1074/jbc.271.25.15139","title":"Disease-associated Mutations in the Fourth Cytoplasmic Loop of Cystic Fibrosis Transmembrane Conductance Regulator Compromise Biosynthetic Processing and Chloride Channel Activity","display_name":"Disease-associated Mutations in the Fourth Cytoplasmic Loop of Cystic Fibrosis Transmembrane Conductance Regulator Compromise Biosynthetic Processing and Chloride Channel Activity","publication_year":1996,"publication_date":"1996-06-01","ids":{"openalex":"https://openalex.org/W2020741020","doi":"https://doi.org/10.1074/jbc.271.25.15139","mag":"2020741020","pmid":"https://pubmed.ncbi.nlm.nih.gov/8662892"},"language":"en","primary_location":{"id":"doi:10.1074/jbc.271.25.15139","doi":"https://doi.org/10.1074/jbc.271.25.15139","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.271.25.15139","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1074/jbc.271.25.15139","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064028642","display_name":"Fabian S. Seibert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Fabian S. Seibert","raw_affiliation_strings":["Department of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada M5S 1A8","Medical Research Council Group in Membrane Biology, Departments of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada, M5S 1A8"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada M5S 1A8","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Medical Research Council Group in Membrane Biology, Departments of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada, M5S 1A8","institution_ids":["https://openalex.org/I185261750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033237248","display_name":"Paul Linsdell","orcid":"https://orcid.org/0000-0001-6257-6273","observed_orcids":["https://orcid.org/0000-0001-6257-6273"]},"institutions":[{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Paul Linsdell","raw_affiliation_strings":["the Department of Physiology, McGill University, Montreal, Quebec, Canada H3G 1Y6, and the"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Department of Physiology, McGill University, Montreal, Quebec, Canada H3G 1Y6, and the","institution_ids":["https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042609718","display_name":"Tip W. Loo","orcid":"https://orcid.org/0000-0003-2108-0188","observed_orcids":["https://orcid.org/0000-0003-2108-0188"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Tip W. Loo","raw_affiliation_strings":["Medical Research Council Group in Membrane Biology, Departments of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada, M5S 1A8"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Group in Membrane Biology, Departments of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada, M5S 1A8","institution_ids":["https://openalex.org/I185261750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056371233","display_name":"John W. Hanrahan","orcid":"https://orcid.org/0000-0001-9080-2039","observed_orcids":["https://orcid.org/0000-0001-9080-2039"]},"institutions":[{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"John W. Hanrahan","raw_affiliation_strings":["the Department of Physiology, McGill University, Montreal, Quebec, Canada H3G 1Y6, and the"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Department of Physiology, McGill University, Montreal, Quebec, Canada H3G 1Y6, and the","institution_ids":["https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060459035","display_name":"David M. Clarke","orcid":"https://orcid.org/0000-0003-4335-7184","observed_orcids":["https://orcid.org/0000-0003-4335-7184"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"David M. Clarke","raw_affiliation_strings":["Medical Research Council Group in Membrane Biology, Departments of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada, M5S 1A8"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Group in Membrane Biology, Departments of Medicine and Biochemistry, University of Toronto, Toronto, Ontario, Canada, M5S 1A8","institution_ids":["https://openalex.org/I185261750"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108426897","display_name":"John R. Riordan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210125099","display_name":"Mayo Clinic in Arizona","ror":"https://ror.org/03jp40720","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"John R. Riordan","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, Mayo Foundation and S. C. Johnson Medical Research Center, Mayo Clinic Scottsdale, Scottsdale, Arizona 85259"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Mayo Foundation and S. C. Johnson Medical Research Center, Mayo Clinic Scottsdale, Scottsdale, Arizona 85259","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5108426897"],"corresponding_institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":3430,"currency":"USD","value_usd":3430},"fwci":10.9034,"has_fulltext":false,"cited_by_count":124,"citation_normalized_percentile":{"value":0.98618129,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"271","issue":"25","first_page":"15139","last_page":"15145"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10724","display_name":"Ion Transport and Channel Regulation","score":0.00019999999494757503,"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":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cystic-fibrosis-transmembrane-conductance-regulator","display_name":"cystic fibrosis transmembrane conductance regulator","score":0.9369999766349792},{"id":"https://openalex.org/keywords/cftr","display_name":"CFTR","score":0.9049999713897705},{"id":"https://openalex.org/keywords/cystic-fibrosis","display_name":"cystic fibrosis","score":0.8539999723434448},{"id":"https://openalex.org/keywords/er-retention","display_name":"endoplasmic reticulum retention","score":0.8859999775886536},{"id":"https://openalex.org/keywords/glycosylation","display_name":"glycosylation","score":0.7289999723434448},{"id":"https://openalex.org/keywords/channel-gating","display_name":"channel gating","score":0.6639999747276306},{"id":"https://openalex.org/keywords/open-probability","display_name":"open probability","score":0.7730000019073486},{"id":"https://openalex.org/keywords/chloride-channel-activity","display_name":"chloride channel activity","score":0.7760000228881836},{"id":"https://openalex.org/keywords/pancreatic-insufficiency","display_name":"pancreatic insufficiency","score":0.796999990940094},{"id":"https://openalex.org/keywords/protein-folding","display_name":"protein folding","score":0.5139999985694885},{"id":"https://openalex.org/keywords/single-channel-conductance","display_name":"single-channel conductance","score":0.6589999794960022}],"concepts":[{"id":"https://openalex.org/C145822097","wikidata":"https://www.wikidata.org/wiki/Q106916978","display_name":"Chloride channel","level":2,"score":0.8197008371353149},{"id":"https://openalex.org/C2778428886","wikidata":"https://www.wikidata.org/wiki/Q420470","display_name":"Cystic fibrosis transmembrane conductance regulator","level":3,"score":0.6953606605529785},{"id":"https://openalex.org/C6929976","wikidata":"https://www.wikidata.org/wiki/Q3771881","display_name":"Regulator","level":3,"score":0.6849846839904785},{"id":"https://openalex.org/C190062978","wikidata":"https://www.wikidata.org/wiki/Q79899","display_name":"Cytoplasm","level":2,"score":0.5646421909332275},{"id":"https://openalex.org/C2778695967","wikidata":"https://www.wikidata.org/wiki/Q44791900","display_name":"Chloride","level":2,"score":0.49298331141471863},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.48853716254234314},{"id":"https://openalex.org/C121932024","wikidata":"https://www.wikidata.org/wiki/Q5159376","display_name":"Conductance","level":2,"score":0.4772460460662842},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4582139849662781},{"id":"https://openalex.org/C184670325","wikidata":"https://www.wikidata.org/wiki/Q512604","display_name":"Loop (graph theory)","level":2,"score":0.4536454677581787},{"id":"https://openalex.org/C24530287","wikidata":"https://www.wikidata.org/wiki/Q424204","display_name":"Transmembrane protein","level":3,"score":0.41493749618530273},{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.4075731039047241},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37862488627433777},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3446614146232605},{"id":"https://openalex.org/C12554922","wikidata":"https://www.wikidata.org/wiki/Q7100","display_name":"Biophysics","level":1,"score":0.34460368752479553},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.29479414224624634},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2699670195579529},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.22927036881446838},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.21187207102775574},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15060043334960938},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.12059879302978516},{"id":"https://openalex.org/C26873012","wikidata":"https://www.wikidata.org/wiki/Q214781","display_name":"Condensed matter physics","level":1,"score":0.06482475996017456},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C114614502","wikidata":"https://www.wikidata.org/wiki/Q76592","display_name":"Combinatorics","level":1,"score":0.0},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006224","descriptor_name":"Cricetinae","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":"D007700","descriptor_name":"Kinetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008564","descriptor_name":"Membrane Potentials","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014162","descriptor_name":"Transfection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015640","descriptor_name":"Ion Channel Gating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016466","descriptor_name":"CHO Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017433","descriptor_name":"Protein Structure, Secondary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018408","descriptor_name":"Patch-Clamp Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019005","descriptor_name":"Cystic Fibrosis Transmembrane Conductance Regulator","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019005","descriptor_name":"Cystic Fibrosis Transmembrane Conductance Regulator","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D019005","descriptor_name":"Cystic Fibrosis Transmembrane Conductance Regulator","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1074/jbc.271.25.15139","doi":"https://doi.org/10.1074/jbc.271.25.15139","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.271.25.15139","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"pmid:8662892","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8662892","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":"The Journal of biological chemistry","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1074/jbc.271.25.15139","doi":"https://doi.org/10.1074/jbc.271.25.15139","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.271.25.15139","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W89071597","https://openalex.org/W120703973","https://openalex.org/W1525551129","https://openalex.org/W1553815349","https://openalex.org/W1588246354","https://openalex.org/W1590184168","https://openalex.org/W1638694981","https://openalex.org/W1954929088","https://openalex.org/W1965400044","https://openalex.org/W1975971473","https://openalex.org/W1978151850","https://openalex.org/W1979215455","https://openalex.org/W1980180966","https://openalex.org/W1993935349","https://openalex.org/W1999318646","https://openalex.org/W1999662264","https://openalex.org/W2010691166","https://openalex.org/W2015655328","https://openalex.org/W2019702541","https://openalex.org/W2025525982","https://openalex.org/W2039599894","https://openalex.org/W2047930213","https://openalex.org/W2052588826","https://openalex.org/W2058600907","https://openalex.org/W2061592889","https://openalex.org/W2064390823","https://openalex.org/W2071258132","https://openalex.org/W2076091117","https://openalex.org/W2082244393","https://openalex.org/W2082968284","https://openalex.org/W2084373293","https://openalex.org/W2102886871","https://openalex.org/W2136017423","https://openalex.org/W2156642288","https://openalex.org/W2332646752"],"related_works":["https://openalex.org/W1999538527","https://openalex.org/W1989544135","https://openalex.org/W2080854798","https://openalex.org/W310454076","https://openalex.org/W2117819061","https://openalex.org/W1997302525","https://openalex.org/W1968566436","https://openalex.org/W2097052321","https://openalex.org/W2102500946","https://openalex.org/W4413101906"],"abstract_inverted_index":{"A":[0],"cluster":[1],"of":[2,9,42,49,80,83,85,100,109,216,222],"18":[3],"point":[4],"mutations":[5,27,136,147,208],"in":[6,21,33,62,89,151,193,201,209],"exon":[7],"17b":[8],"the":[10,34,43,50,63,66,73,92,97,106,110,124,130,157,172,176,220],"cystic":[11,24],"fibrosis":[12],"transmembrane":[13],"conductance":[14,179],"regulator":[15],"(CFTR)":[16],"gene":[17],"has":[18],"been":[19],"detected":[20,120],"patients":[22,152,163],"with":[23,143],"fibrosis.":[25],"These":[26],"cause":[28,137],"single":[29],"amino":[30],"acid":[31],"substitutions":[32],"most":[35],"C-terminal":[36],"cytoplasmic":[37],"loop":[38],"(CL4,":[39],"residues":[40,87],"1035-1102)":[41],"CFTR":[44,112],"chloride":[45],"channel.":[46],"Heterologous":[47],"expression":[48],"mutants":[51,69,159,174],"showed":[52],"that":[53,134,171,207],"12":[54],"produced":[55],"only":[56],"core-glycosylated":[57],"CFTR,":[58,182,217],"which":[59],"was":[60,118,128],"retained":[61],"endoplasmic":[64],"reticulum;":[65],"other":[67,93,131],"six":[68],"matured":[70],"and":[71,198],"reached":[72],"cell":[74],"surface.":[75],"In":[76],"some":[77],"cases":[78],"substitution":[79],"one":[81],"member":[82],"pairs":[84],"adjacent":[86],"resulted":[88],"misprocessing,":[90],"whereas":[91],"did":[94],"not.":[95],"Thus,":[96],"secondary":[98],"structure":[99],"CL4":[101,210],"may":[102],"contribute":[103],"crucially":[104],"to":[105,190],"proper":[107],"folding":[108],"entire":[111],"molecule.":[113],"Cyclic":[114],"AMP-stimulated":[115],"iodide":[116],"efflux":[117],"not":[119,212],"from":[121,129,162],"cells":[122],"expressing":[123],"misprocessed":[125],"variants":[126],"but":[127,183,218],"six,":[132],"indicating":[133],"their":[135],"relatively":[138],"subtle":[139],"channel":[140,194,223],"defects.":[141],"Consistent":[142],"this,":[144],"these":[145],"latter":[146],"generally":[148,188],"are":[149,154,160,165],"present":[150],"who":[153,164],"pancreatic-sufficient,":[155],"while":[156],"processing":[158],"mostly":[161],"pancreatic-insufficient.":[166],"Single-channel":[167],"patch-clamp":[168],"analysis":[169],"demonstrated":[170],"processed":[173],"had":[175],"same":[177],"ohmic":[178],"as":[180],"wild-type":[181],"a":[184,199],"lower":[185],"open":[186,203],"probability,":[187],"due":[189],"an":[191],"increase":[192],"mean":[195,202],"closed":[196],"time":[197],"reduction":[200],"time.":[204],"This":[205],"suggests":[206],"do":[211],"affect":[213],"pore":[214],"properties":[215],"disrupt":[219],"mechanism":[221],"gating.":[224]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":9},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":8}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}