{"id":"https://openalex.org/W2108026244","doi":"https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","title":"Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis","display_name":"Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis","publication_year":1997,"publication_date":"1997-03-31","ids":{"openalex":"https://openalex.org/W2108026244","doi":"https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","mag":"2108026244","pmid":"https://pubmed.ncbi.nlm.nih.gov/9096763"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","doi":"https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5063929033","display_name":"Wendy S. Rubinstein","orcid":"https://orcid.org/0000-0002-8790-9959","observed_orcids":["https://orcid.org/0000-0002-8790-9959"]},"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":"Wendy S. Rubinstein","raw_affiliation_strings":["Department of Human Genetics, University of Pittsburgh, Pennsylvania 15261, USA","Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania","Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Pittsburgh, Pennsylvania 15261, USA","institution_ids":["https://openalex.org/I170201317"]},{"raw_affiliation_string":"Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]},{"raw_affiliation_string":"Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111709687","display_name":"Sharon L. Wenger","orcid":null,"observed_orcids":[]},"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":"Sharon L. Wenger","raw_affiliation_strings":["Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania","Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Robert M. Hoffman","orcid":null,"observed_orcids":[]},"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":"Robert M. Hoffman","raw_affiliation_strings":["Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065995811","display_name":"Arleen D. Auerbach","orcid":"https://orcid.org/0000-0002-6911-8379","observed_orcids":["https://orcid.org/0000-0002-6911-8379"]},"institutions":[{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Arleen D. Auerbach","raw_affiliation_strings":["Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York","institution_ids":["https://openalex.org/I83399316"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023876960","display_name":"John Joseph Mulvihill","orcid":"https://orcid.org/0000-0003-0437-0351","observed_orcids":["https://orcid.org/0000-0003-0437-0351","https://orcid.org/0000-0001-9505-0470"]},"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":"John J. Mulvihill","raw_affiliation_strings":["Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania","Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5063929033"],"corresponding_institution_ids":["https://openalex.org/I170201317"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.25904881,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"69","issue":"3","first_page":"315","last_page":"319"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.9345999956130981,"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/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.9345999956130981,"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/T12919","display_name":"Blood disorders and treatments","score":0.015399999916553497,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.005499999970197678,"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/fanconi-anemia","display_name":"Fanconi anemia","score":0.949999988079071},{"id":"https://openalex.org/keywords/interstitial-lung-disease","display_name":"interstitial lung disease","score":0.9890000224113464},{"id":"https://openalex.org/keywords/pulmonary-fibrosis","display_name":"pulmonary fibrosis","score":0.8180000185966492},{"id":"https://openalex.org/keywords/holt-oram-syndrome","display_name":"Holt-Oram syndrome","score":0.8849999904632568},{"id":"https://openalex.org/keywords/pancytopenia","display_name":"pancytopenia","score":0.8019999861717224},{"id":"https://openalex.org/keywords/thrombocytopenia","display_name":"thrombocytopenia","score":0.906000018119812},{"id":"https://openalex.org/keywords/trimethoprim-sulfamethoxazole","display_name":"trimethoprim-sulfamethoxazole","score":0.8859999775886536},{"id":"https://openalex.org/keywords/prednisone","display_name":"prednisone","score":0.7979999780654907},{"id":"https://openalex.org/keywords/alpha-1-antitrypsin","display_name":"alpha-1-antitrypsin","score":0.8640000224113464},{"id":"https://openalex.org/keywords/pi-phenotype","display_name":"Pi phenotype","score":0.6520000100135803},{"id":"https://openalex.org/keywords/diepoxybutane","display_name":"diepoxybutane","score":0.7269999980926514},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.7720000147819519},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.8600000143051147},{"id":"https://openalex.org/keywords/oxidative-damage","display_name":"oxidative damage","score":0.8889999985694885},{"id":"https://openalex.org/keywords/lung-pathogenesis","display_name":"lung pathogenesis","score":0.5600000023841858}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6437217593193054},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.49228277802467346},{"id":"https://openalex.org/C2777543607","wikidata":"https://www.wikidata.org/wiki/Q1153419","display_name":"Interstitial lung disease","level":3,"score":0.4818100333213806},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.4547351002693176},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4539094865322113},{"id":"https://openalex.org/C2779619758","wikidata":"https://www.wikidata.org/wiki/Q7316336","display_name":"Restrictive lung disease","level":3,"score":0.44298991560935974},{"id":"https://openalex.org/C75603125","wikidata":"https://www.wikidata.org/wiki/Q1877462","display_name":"Pulmonary function testing","level":2,"score":0.3913780152797699},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.3706355094909668}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","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":"D007621","descriptor_name":"Karyotyping","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017563","descriptor_name":"Lung Diseases, Interstitial","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D017563","descriptor_name":"Lung Diseases, Interstitial","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D017563","descriptor_name":"Lung Diseases, Interstitial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017563","descriptor_name":"Lung Diseases, Interstitial","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018384","descriptor_name":"Oxidative Stress","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","doi":"https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<315::aid-ajmg18>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:9096763","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9096763","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":"American journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G3460795981","display_name":null,"funder_award_id":"HL-32987","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":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W56904768","https://openalex.org/W107028520","https://openalex.org/W1528470287","https://openalex.org/W1549538719","https://openalex.org/W1559871785","https://openalex.org/W1583606054","https://openalex.org/W1596008313","https://openalex.org/W1601895528","https://openalex.org/W1964274155","https://openalex.org/W1967260913","https://openalex.org/W1971858212","https://openalex.org/W1976837333","https://openalex.org/W1986620264","https://openalex.org/W1989070796","https://openalex.org/W1991330292","https://openalex.org/W1993808141","https://openalex.org/W1998325440","https://openalex.org/W2000181213","https://openalex.org/W2006284878","https://openalex.org/W2010411437","https://openalex.org/W2018235365","https://openalex.org/W2019774291","https://openalex.org/W2020733732","https://openalex.org/W2025639208","https://openalex.org/W2029026115","https://openalex.org/W2030294191","https://openalex.org/W2045743484","https://openalex.org/W2048949519","https://openalex.org/W2057603542","https://openalex.org/W2068888078","https://openalex.org/W2081235292","https://openalex.org/W2091813113","https://openalex.org/W2092820789","https://openalex.org/W2106913223","https://openalex.org/W2110198893","https://openalex.org/W2119341928","https://openalex.org/W2121102190","https://openalex.org/W2181385190","https://openalex.org/W2206169755","https://openalex.org/W2220682151","https://openalex.org/W2237812909","https://openalex.org/W2412717431","https://openalex.org/W2499807692","https://openalex.org/W2884367205","https://openalex.org/W4242109965"],"related_works":["https://openalex.org/W4283801330","https://openalex.org/W4367607590","https://openalex.org/W1998039114","https://openalex.org/W1986620264","https://openalex.org/W2132727748","https://openalex.org/W2091632648","https://openalex.org/W2006284878","https://openalex.org/W3103515765","https://openalex.org/W2070292641","https://openalex.org/W2267076981"],"abstract_inverted_index":{"We":[0],"have":[1],"studied":[2],"a":[3,7,98,126,168],"38-year-old":[4],"man":[5],"with":[6,15,125],"prior":[8],"diagnosis":[9],"of":[10,49,142,167,186],"Holt-Oram":[11],"syndrome,":[12],"who":[13],"presented":[14],"diabetes":[16],"mellitus.":[17],"He":[18],"had":[19,38],"recently":[20],"taken":[21],"prednisone":[22],"for":[23,30],"idiopathic":[24],"interstitial":[25,57],"lung":[26,187],"disease":[27,144],"and":[28,46,68,88,102,117,140,196],"trimethoprim-sulfamethoxazole":[29],"sinusitis.":[31],"Thrombocytopenia":[32],"progressed":[33],"to":[34,193],"pancytopenia.":[35],"The":[36,137,158,183],"patient":[37,147],"skeletal,":[39],"cardiac,":[40],"renal,":[41],"cutaneous,":[42],"endocrine,":[43],"hepatic,":[44],"neurologic,":[45],"hematologic":[47],"manifestations":[48],"Fanconi":[50,160],"anemia":[51],"(FA).":[52],"Chest":[53],"radiographs":[54],"showed":[55,80,97],"increased":[56],"markings":[58],"at":[59,72,94],"age":[60,73,76,95,106],"25,":[61],"dyspnea":[62],"began":[63],"in":[64,129,133,145,175,179,189],"his":[65],"late":[66],"20s,":[67],"he":[69],"stopped":[70],"smoking":[71],"32.":[74],"At":[75],"38,":[77],"computerized":[78],"tomography":[79],"bilateral":[81],"upper":[82],"lobe":[83,86],"fibrosis,":[84],"lower":[85],"honeycombing,":[87],"bronchiectasis.":[89],"Pulmonary":[90],"function":[91],"tests,":[92],"compromised":[93],"29,":[96],"moderately":[99],"severe":[100],"obstructive":[101],"restrictive":[103],"pattern":[104],"by":[105,135,152],"38.":[107],"Serum":[108],"alpha-1":[109],"antitrypsin":[110],"level":[111],"was":[112,120,123],"224":[113],"(normal":[114],"85-213)":[115],"mg/dL":[116],"PI":[118],"phenotype":[119],"M1.":[121],"Karyotype":[122],"46,XY":[124],"marked":[127],"increase":[128],"chromosome":[130],"aberrations":[131],"induced":[132],"vitro":[134],"diepoxybutane.":[136],"early":[138],"onset":[139],"degree":[141],"pulmonary":[143,170],"this":[146],"cannot":[148],"be":[149],"fully":[150],"explained":[151],"environmental":[153],"or":[154],"known":[155],"genetic":[156],"causes.":[157],"International":[159],"Anemia":[161],"Registry":[162],"(IFAR)":[163],"contains":[164],"no":[165],"example":[166],"similar":[169],"presentation.":[171],"Gene-environment":[172],"(ecogenetic)":[173],"interactions":[174],"FA":[176,190],"seem":[177],"evident":[178],"the":[180],"final":[181],"phenotype.":[182],"pathogenic":[184],"mechanism":[185],"involvement":[188],"may":[191],"relate":[192],"oxidative":[194],"injury":[195],"cytokine":[197],"anomalies.":[198]},"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}