{"id":"https://openalex.org/W2016354485","doi":"https://doi.org/10.1183/09031936.04.00092304","title":"Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation","display_name":"Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation","publication_year":2004,"publication_date":"2004-11-30","ids":{"openalex":"https://openalex.org/W2016354485","doi":"https://doi.org/10.1183/09031936.04.00092304","mag":"2016354485","pmid":"https://pubmed.ncbi.nlm.nih.gov/15572558"},"language":"en","primary_location":{"id":"doi:10.1183/09031936.04.00092304","doi":"https://doi.org/10.1183/09031936.04.00092304","is_oa":true,"landing_page_url":"https://doi.org/10.1183/09031936.04.00092304","pdf_url":"https://erj.ersjournals.com/content/erj/24/6/1072.full.pdf","source":{"id":"https://openalex.org/S4210207896","display_name":"European Respiratory Journal","issn_l":"0903-1936","issn":["0903-1936","1399-3003"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317833","host_organization_name":"European Respiratory Society","host_organization_lineage":["https://openalex.org/P4310317833"],"host_organization_lineage_names":["European Respiratory Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Respiratory Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://erj.ersjournals.com/content/erj/24/6/1072.full.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5038700093","display_name":"Selvaggia Percopo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Percopo","raw_affiliation_strings":["University of Naples-Federico II"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Naples-Federico II","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054665784","display_name":"H. Scott Cameron","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H.S. Cameron","raw_affiliation_strings":["Johns Hopkins University ("],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Johns Hopkins University (","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018295626","display_name":"Lawrence M. Nogee","orcid":"https://orcid.org/0000-0003-0540-8083","observed_orcids":["https://orcid.org/0000-0003-0540-8083"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L.M. Nogee","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046186762","display_name":"Guido Pettinato","orcid":"https://orcid.org/0000-0003-2599-0357","observed_orcids":["https://orcid.org/0000-0003-2599-0357"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G. Pettinato","raw_affiliation_strings":["University of Naples-Federico II"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Naples-Federico II","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020351385","display_name":"Silvia Montella","orcid":"https://orcid.org/0000-0002-3133-1166","observed_orcids":["https://orcid.org/0000-0002-3133-1166"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Montella","raw_affiliation_strings":["University of Naples-Federico II"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Naples-Federico II","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013898274","display_name":"Francesca Santamaria","orcid":"https://orcid.org/0000-0002-9375-7429","observed_orcids":["https://orcid.org/0000-0002-9375-7429"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"F. Santamaria","raw_affiliation_strings":["University of Naples-Federico II"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Naples-Federico II","institution_ids":["https://openalex.org/I71267560"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.792,"has_fulltext":true,"cited_by_count":32,"citation_normalized_percentile":{"value":0.7607498,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"24","issue":"6","first_page":"1072","last_page":"1073"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.2709999978542328,"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":0.2709999978542328,"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/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.20569999516010284,"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/T10549","display_name":"Neonatal Respiratory Health Research","score":0.11330000311136246,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/surfactant-protein-c","display_name":"surfactant protein C","score":0.9290000200271606},{"id":"https://openalex.org/keywords/variable-phenotype","display_name":"variable phenotype","score":0.8759999871253967},{"id":"https://openalex.org/keywords/fatal-outcome","display_name":"fatal outcome","score":0.6269999742507935},{"id":"https://openalex.org/keywords/pulmonary-surfactant","display_name":"pulmonary surfactant","score":0.5590000152587891},{"id":"https://openalex.org/keywords/alpha-1-antitrypsin-deficiency","display_name":"alpha-1 antitrypsin deficiency","score":0.7730000019073486}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7546701431274414},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7280048727989197},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6442089080810547},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.575684666633606},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.47618380188941956}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001707","descriptor_name":"Biopsy, Needle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"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":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011486","descriptor_name":"Protein C","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017563","descriptor_name":"Lung Diseases, Interstitial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017563","descriptor_name":"Lung Diseases, Interstitial","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1183/09031936.04.00092304","doi":"https://doi.org/10.1183/09031936.04.00092304","is_oa":true,"landing_page_url":"https://doi.org/10.1183/09031936.04.00092304","pdf_url":"https://erj.ersjournals.com/content/erj/24/6/1072.full.pdf","source":{"id":"https://openalex.org/S4210207896","display_name":"European Respiratory Journal","issn_l":"0903-1936","issn":["0903-1936","1399-3003"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317833","host_organization_name":"European Respiratory Society","host_organization_lineage":["https://openalex.org/P4310317833"],"host_organization_lineage_names":["European Respiratory Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Respiratory Journal","raw_type":"journal-article"},{"id":"pmid:15572558","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15572558","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 European respiratory journal","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1183/09031936.04.00092304","doi":"https://doi.org/10.1183/09031936.04.00092304","is_oa":true,"landing_page_url":"https://doi.org/10.1183/09031936.04.00092304","pdf_url":"https://erj.ersjournals.com/content/erj/24/6/1072.full.pdf","source":{"id":"https://openalex.org/S4210207896","display_name":"European Respiratory Journal","issn_l":"0903-1936","issn":["0903-1936","1399-3003"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317833","host_organization_name":"European Respiratory Society","host_organization_lineage":["https://openalex.org/P4310317833"],"host_organization_lineage_names":["European Respiratory Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Respiratory Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9922999739646912}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2016354485.pdf","grobid_xml":"https://content.openalex.org/works/W2016354485.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1966959414","https://openalex.org/W1975308804","https://openalex.org/W2021483365","https://openalex.org/W2034875244","https://openalex.org/W2095374923","https://openalex.org/W2107367358","https://openalex.org/W2133937594","https://openalex.org/W2136062886","https://openalex.org/W2136114918","https://openalex.org/W2315096416","https://openalex.org/W2416432012"],"related_works":["https://openalex.org/W2290881982","https://openalex.org/W1995301423","https://openalex.org/W3205461398","https://openalex.org/W7100145181","https://openalex.org/W4235936923","https://openalex.org/W2325351679","https://openalex.org/W1966959414","https://openalex.org/W2269959633","https://openalex.org/W2474634065","https://openalex.org/W7126339580"],"abstract_inverted_index":{"To":[0],"the":[1,8,33,41,51,54,83,110,127,163],"Editors:":[2],"\n\nWe":[3],"read":[4],"with":[5,64,94,100,121],"great":[6],"interest":[7],"report":[9,118],"by":[10],"Brasch":[11],"et":[12],"al":[13],".":[14],"1":[15],"on":[16],"a":[17,26,119,134],"case":[18],"of":[19,43,50,53,90,113,153],"interstitial":[20,66],"lung":[21,91,123],"disease":[22,92,124],"(ILD)":[23],"due":[24,125],"to":[25,108,126,138,162],"de":[27],"novo":[28],"heterozygous":[29],"missense":[30],"mutation":[31],"in":[32,40,47],"surfactant":[34,55],"protein-C":[35],"gene":[36],"(SFTPC),":[37],"which":[38],"resulted":[39],"substitution":[42],"threonine":[44],"for":[45],"isoleucine":[46],"codon":[48],"73":[49],"propeptide":[52],"protein":[56],"(SP)-C":[57],"proprotein":[58],"(I73T).":[59],"Histological":[60],"findings":[61],"were":[62],"consistent":[63],"nonspecific":[65],"pneumonia":[67],"(NSIP)":[68],"and":[69,79,82,103],"pulmonary":[70],"alveolar":[71],"proteinosis":[72],"(PAP)":[73],"features.":[74],"Therapy":[75],"included":[76],"whole-lung":[77],"lavages":[78],"anti-inflammatory":[80],"drugs,":[81],"child":[84,120,132],"is":[85,97],"still":[86],"alive.\n\nThe":[87],"natural":[88],"history":[89],"associated":[93],"SP-C":[95,128],"mutations":[96],"poorly":[98],"characterised,":[99],"unpredictable":[101],"short-":[102],"long-term":[104],"outcomes.":[105],"In":[106],"order":[107],"emphasise":[109],"phenotypic":[111],"variability":[112],"SFTPC":[114],"mutations,":[115],"we":[116],"now":[117],"fatal":[122],"I73T":[129],"mutation.":[130],"The":[131],"was":[133,160],"full-term":[135],"male,":[136],"born":[137],"unrelated":[139],"parents":[140],"from":[141],"an":[142],"uneventful":[143],"twin":[144],"dizygotic":[145],"pregnancy.":[146],"At":[147,156],"3":[148],"months,":[149,158],"he":[150,159],"developed":[151],"episodes":[152],"asthmatic":[154],"bronchitis.":[155],"9":[157],"admitted":[161],"\u2026":[164]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}