{"id":"https://openalex.org/W2103938692","doi":"https://doi.org/10.1186/1471-2350-5-26","title":"CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity","display_name":"CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity","publication_year":2004,"publication_date":"2004-10-26","ids":{"openalex":"https://openalex.org/W2103938692","doi":"https://doi.org/10.1186/1471-2350-5-26","mag":"2103938692","pmid":"https://pubmed.ncbi.nlm.nih.gov/15507145","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/526769"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2350-5-26","doi":"https://doi.org/10.1186/1471-2350-5-26","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2350-5-26","pdf_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/1471-2350-5-26","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/1471-2350-5-26","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111867084","display_name":"Carol J. Blaisdell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126744593","display_name":"University of Maryland, Baltimore","ror":"https://ror.org/04rq5mt64","country_code":"US","type":"education","lineage":["https://openalex.org/I126744593"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Carol J Blaisdell","raw_affiliation_strings":["Department of Genetics, School of Medicine, University of Maryland, Howard Hall 596, 660 W, Redwood St,, Baltimore, Maryland, USA. cblaisdell@peds.umaryland.edu","Department of Genetics, School of Medicine, University of Maryland, Baltimore, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, School of Medicine, University of Maryland, Howard Hall 596, 660 W, Redwood St,, Baltimore, Maryland, USA. cblaisdell@peds.umaryland.edu","institution_ids":["https://openalex.org/I126744593"]},{"raw_affiliation_string":"Department of Genetics, School of Medicine, University of Maryland, Baltimore, USA","institution_ids":["https://openalex.org/I126744593"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028659405","display_name":"Timothy D. Howard","orcid":"https://orcid.org/0000-0003-2518-4902","observed_orcids":["https://orcid.org/0000-0003-2518-4902"]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Timothy D Howard","raw_affiliation_strings":["Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, 27157, USA","Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, 27157, USA","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"raw_affiliation_string":"Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, USA","institution_ids":["https://openalex.org/I47251452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110197688","display_name":"Augustus Stern","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126744593","display_name":"University of Maryland, Baltimore","ror":"https://ror.org/04rq5mt64","country_code":"US","type":"education","lineage":["https://openalex.org/I126744593"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Augustus Stern","raw_affiliation_strings":["School of Medicine, University of Maryland, Howard Hall 324, Baltimore, Maryland, USA","School of Medicine, University of Maryland, Baltimore (USA)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine, University of Maryland, Howard Hall 324, Baltimore, Maryland, USA","institution_ids":["https://openalex.org/I126744593"]},{"raw_affiliation_string":"School of Medicine, University of Maryland, Baltimore (USA)","institution_ids":["https://openalex.org/I126744593"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067943500","display_name":"Penelope D Bamford","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126744593","display_name":"University of Maryland, Baltimore","ror":"https://ror.org/04rq5mt64","country_code":"US","type":"education","lineage":["https://openalex.org/I126744593"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Penelope Bamford","raw_affiliation_strings":["Department of Pediatrics, School of Medicine, University of Maryland, Bressler 10\u2013019, 655 W. Baltimore St., Baltimore, Maryland, 21201, USA","Department of Pediatrics, School of Medicine, University of Maryland, Baltimore, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, University of Maryland, Bressler 10\u2013019, 655 W. Baltimore St., Baltimore, Maryland, 21201, USA","institution_ids":["https://openalex.org/I126744593"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, University of Maryland, Baltimore, USA","institution_ids":["https://openalex.org/I126744593"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048656238","display_name":"Eugene R. Bleecker","orcid":"https://orcid.org/0000-0002-4767-3494","observed_orcids":["https://orcid.org/0000-0002-4767-3494"]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eugene R Bleecker","raw_affiliation_strings":["Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, 27157, USA","Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, 27157, USA","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"raw_affiliation_string":"Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, USA","institution_ids":["https://openalex.org/I47251452"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016230559","display_name":"Oscar Colin Stine","orcid":"https://orcid.org/0000-0003-3974-3752","observed_orcids":["https://orcid.org/0000-0003-3974-3752"]},"institutions":[{"id":"https://openalex.org/I126744593","display_name":"University of Maryland, Baltimore","ror":"https://ror.org/04rq5mt64","country_code":"US","type":"education","lineage":["https://openalex.org/I126744593"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"O Colin Stine","raw_affiliation_strings":["Department of Genetics, School of Medicine, University of Maryland, Howard Hall 596, 660 W. Redwood St., Baltimore, Maryland, USA","Department of Genetics, School of Medicine, University of Maryland, Baltimore, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, School of Medicine, University of Maryland, Howard Hall 596, 660 W. Redwood St., Baltimore, Maryland, USA","institution_ids":["https://openalex.org/I126744593"]},{"raw_affiliation_string":"Department of Genetics, School of Medicine, University of Maryland, Baltimore, USA","institution_ids":["https://openalex.org/I126744593"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5111867084"],"corresponding_institution_ids":["https://openalex.org/I126744593"],"apc_list":{"value":2380,"currency":"USD","value_usd":2380},"apc_paid":{"value":2380,"currency":"USD","value_usd":2380},"fwci":0.9151,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.79082802,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"5","issue":"1","first_page":"26","last_page":"26"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":1.0,"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":1.0,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10724","display_name":"Ion Transport and Channel Regulation","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cystic-fibrosis","display_name":"cystic fibrosis","score":0.9980000257492065},{"id":"https://openalex.org/keywords/clc-2","display_name":"ClC-2","score":0.9319999814033508},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8709999918937683},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.7599999904632568},{"id":"https://openalex.org/keywords/lung-disease","display_name":"lung disease","score":0.6759999990463257},{"id":"https://openalex.org/keywords/chloride-channels","display_name":"chloride channels","score":0.7850000262260437},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.6909999847412109},{"id":"https://openalex.org/keywords/cftr","display_name":"CFTR","score":0.3619999885559082},{"id":"https://openalex.org/keywords/promoter-polymorphism","display_name":"promoter polymorphism","score":0.6299999952316284},{"id":"https://openalex.org/keywords/intron-1-polymorphism","display_name":"intron 1 polymorphism","score":0.8299999833106995},{"id":"https://openalex.org/keywords/fev1","display_name":"FEV1","score":0.871999979019165}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.8390237092971802},{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.8034841418266296},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6417734622955322},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6053436994552612},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5364594459533691},{"id":"https://openalex.org/C145822097","wikidata":"https://www.wikidata.org/wiki/Q106916978","display_name":"Chloride channel","level":2,"score":0.5054752826690674},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.483207106590271},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.4766412675380707},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.44152557849884033},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4253283143043518},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4237712323665619},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.4168768525123596},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.31499144434928894},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2409786581993103},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.22572064399719238},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.179222971200943},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.052708983421325684}],"mesh":[{"descriptor_ui":"D000090007","descriptor_name":"CLC-2 Chloride Channels","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004591","descriptor_name":"Electrophoresis, Polyacrylamide Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D007438","descriptor_name":"Introns","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008171","descriptor_name":"Lung Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008171","descriptor_name":"Lung Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008171","descriptor_name":"Lung Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009297","descriptor_name":"Nasal Mucosa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009297","descriptor_name":"Nasal Mucosa","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012689","descriptor_name":"Sequence Homology, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018118","descriptor_name":"Chloride Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018118","descriptor_name":"Chloride Channels","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019005","descriptor_name":"Cystic Fibrosis Transmembrane Conductance Regulator","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1186/1471-2350-5-26","doi":"https://doi.org/10.1186/1471-2350-5-26","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2350-5-26","pdf_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/1471-2350-5-26","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:1999682","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/526769","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:526769","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/526769","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Med Genet","raw_type":"Text"},{"id":"pmid:15507145","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15507145","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":"BMC medical genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.285.998","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.285.998","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/c7/c0/BMC_Med_Genet_2004_Oct_26_5_26.tar.gz","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:ede1a537c4ed4469a3750907c0e88a65","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/ede1a537c4ed4469a3750907c0e88a65","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Medical Genetics, Vol 5, Iss 1, p 26 (2004)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/1471-2350-5-26","doi":"https://doi.org/10.1186/1471-2350-5-26","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2350-5-26","pdf_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/1471-2350-5-26","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G3331479747","display_name":"FUNCTION OF FETAL LUNG CHLORIDE CHANNELS","funder_award_id":"K08HL003469","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2103938692.pdf","grobid_xml":"https://content.openalex.org/works/W2103938692.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W1766052799","https://openalex.org/W1786021994","https://openalex.org/W1970023850","https://openalex.org/W1972279565","https://openalex.org/W1977188111","https://openalex.org/W1980167030","https://openalex.org/W1980809845","https://openalex.org/W1983520596","https://openalex.org/W1989775272","https://openalex.org/W1995456111","https://openalex.org/W2003453109","https://openalex.org/W2013306854","https://openalex.org/W2022032566","https://openalex.org/W2023229946","https://openalex.org/W2032508489","https://openalex.org/W2042843548","https://openalex.org/W2043502964","https://openalex.org/W2053845290","https://openalex.org/W2078436454","https://openalex.org/W2078581989","https://openalex.org/W2081137852","https://openalex.org/W2086309846","https://openalex.org/W2091833091","https://openalex.org/W2101951084","https://openalex.org/W2105902511","https://openalex.org/W2106761389","https://openalex.org/W2108791703","https://openalex.org/W2113141671","https://openalex.org/W2116365881","https://openalex.org/W2139615069","https://openalex.org/W2145451660","https://openalex.org/W2167983900","https://openalex.org/W2168575552","https://openalex.org/W2186764344","https://openalex.org/W2227786631","https://openalex.org/W2340220984","https://openalex.org/W2397621209","https://openalex.org/W2419443533","https://openalex.org/W2613373403","https://openalex.org/W3028393563","https://openalex.org/W4229809569","https://openalex.org/W4252831606","https://openalex.org/W4285719527","https://openalex.org/W7098838276","https://openalex.org/W7099585975"],"related_works":["https://openalex.org/W7098501843","https://openalex.org/W2100697989","https://openalex.org/W7100642456","https://openalex.org/W2117976886","https://openalex.org/W2188347316","https://openalex.org/W1976894255","https://openalex.org/W2802664702","https://openalex.org/W1979451256","https://openalex.org/W2035155543","https://openalex.org/W4324324645"],"abstract_inverted_index":{"BACKGROUND:":[0],"Cystic":[1],"fibrosis":[2],"(CF)":[3],"lung":[4,22,54,78,134,152],"disease":[5,23,79,135,177],"manifest":[6],"by":[7],"impaired":[8],"chloride":[9,27,45],"secretion":[10],"leads":[11],"to":[12,35,168,174],"eventual":[13],"respiratory":[14],"failure.":[15],"Candidate":[16],"genes":[17],"that":[18],"may":[19,162],"modify":[20,175],"CF":[21,53,71,151,161,176],"severity":[24,132],"include":[25],"alternative":[26],"channels.":[28],"The":[29,57],"objectives":[30],"of":[31,95,133,150,172],"this":[32,121],"study":[33],"are":[34],"identify":[36],"single":[37],"nucleotide":[38],"polymorphisms":[39,51],"(SNPs)":[40],"in":[41,69,104,110,115,138,165],"the":[42,105,131,139,166,170],"airway":[43],"epithelial":[44],"channel,":[46],"CLC-2,":[47],"and":[48,62,76,89,98,113,136],"correlate":[49],"these":[50],"with":[52,74,160],"disease.":[55],"METHODS:":[56],"CLC-2":[58,97,140,143,173],"promoter,":[59,108],"intron":[60,111],"1":[61,102],"exon":[63,116],"20":[64],"were":[65],"examined":[66],"for":[67],"SNPs":[68,137],"adult":[70],"dF508/dF508":[72],"homozygotes":[73],"mild":[75],"severe":[77],"(forced":[80],"expiratory":[81],"volume":[82],"at":[83],"one":[84],"second":[85],"(FEV1)":[86],">":[87],"70%":[88],"<":[90],"40%).":[91],"RESULTS:":[92],"PCR":[93],"amplification":[94],"genomic":[96],"sequence":[99],"analysis":[100,119],"revealed":[101],"polymorphism":[103],"hClC":[106],"-2":[107],"4":[109],"1,":[112],"none":[114],"20.":[117],"Fisher's":[118],"within":[120],"data":[122],"set,":[123],"did":[124],"not":[125,145],"demonstrate":[126],"a":[127,146],"significant":[128],"relationship":[129],"between":[130],"gene.":[141],"CONCLUSIONS:":[142],"is":[144],"key":[147],"modifier":[148],"gene":[149],"phenotype.":[153],"Further":[154],"studies":[155],"evaluating":[156],"other":[157],"phenotypes":[158],"associated":[159],"be":[163],"useful":[164],"future":[167],"assess":[169],"ability":[171],"severity.":[178]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
