{"id":"https://openalex.org/W2513601353","doi":"https://doi.org/10.1513/annalsats.201506-344kv","title":"Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease","display_name":"Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease","publication_year":2016,"publication_date":"2016-08-01","ids":{"openalex":"https://openalex.org/W2513601353","doi":"https://doi.org/10.1513/annalsats.201506-344kv","mag":"2513601353","pmid":"https://pubmed.ncbi.nlm.nih.gov/27564673","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5059492"},"language":"en","primary_location":{"id":"doi:10.1513/annalsats.201506-344kv","doi":"https://doi.org/10.1513/annalsats.201506-344kv","is_oa":false,"landing_page_url":"https://doi.org/10.1513/annalsats.201506-344kv","pdf_url":null,"source":{"id":"https://openalex.org/S4210233309","display_name":"Annals of the American Thoracic Society","issn_l":"2325-6621","issn":["2325-6621","2329-6933"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310316311","host_organization_name":"American Thoracic Society","host_organization_lineage":["https://openalex.org/P4310316311"],"host_organization_lineage_names":["American Thoracic Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the American Thoracic Society","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5059492","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5011372459","display_name":"Mar\u0131\u0301a J. Chiuchiolo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maria J. Chiuchiolo","raw_affiliation_strings":["Department of Genetic Medicine, Weill Cornell Medical College, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine, Weill Cornell Medical College, New York, New York","institution_ids":["https://openalex.org/I4387153466"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064433832","display_name":"Ronald G. Crystal","orcid":"https://orcid.org/0000-0001-6177-6839","observed_orcids":["https://orcid.org/0000-0001-6177-6839"]},"institutions":[{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ronald G. Crystal","raw_affiliation_strings":["Department of Genetic Medicine, Weill Cornell Medical College, New York, New York","Department of Genetic Medicine, Weill Cornell Medical College, 1300 York Avenue, Box 164, New York, NY 10065"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine, Weill Cornell Medical College, New York, New York","institution_ids":["https://openalex.org/I4387153466"]},{"raw_affiliation_string":"Department of Genetic Medicine, Weill Cornell Medical College, 1300 York Avenue, Box 164, New York, NY 10065","institution_ids":["https://openalex.org/I4387153466"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5064433832"],"corresponding_institution_ids":["https://openalex.org/I4387153466"],"apc_list":null,"apc_paid":null,"fwci":0.5792,"has_fulltext":false,"cited_by_count":49,"citation_normalized_percentile":{"value":0.50232558,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"13","issue":"Supplement_4","first_page":"S352","last_page":"S369"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10613","display_name":"Virus-based gene therapy research","score":0.7124000191688538,"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"}},"topics":[{"id":"https://openalex.org/T10613","display_name":"Virus-based gene therapy research","score":0.7124000191688538,"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/T10143","display_name":"Chronic Obstructive Pulmonary Disease (COPD) Research","score":0.10419999808073044,"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/T10725","display_name":"RNA Interference and Gene Delivery","score":0.03519999980926514,"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/alpha-1-antitrypsin-deficiency","display_name":"alpha-1 antitrypsin deficiency","score":0.9990000128746033},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.972000002861023},{"id":"https://openalex.org/keywords/emphysema","display_name":"emphysema","score":0.906000018119812},{"id":"https://openalex.org/keywords/alpha-1-antitrypsin-augmentation-therapy","display_name":"alpha-1 antitrypsin augmentation therapy","score":0.8889999985694885},{"id":"https://openalex.org/keywords/serine-protease-inhibitors","display_name":"serine protease inhibitors","score":0.8539999723434448},{"id":"https://openalex.org/keywords/neutrophil-proteases","display_name":"neutrophil proteases","score":0.9039999842643738},{"id":"https://openalex.org/keywords/lung-disease","display_name":"lung disease","score":0.6449999809265137},{"id":"https://openalex.org/keywords/viral-vectors","display_name":"viral vectors","score":0.4339999854564667},{"id":"https://openalex.org/keywords/clinical-translation","display_name":"clinical translation","score":0.5569999814033508}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9169827699661255},{"id":"https://openalex.org/C2780535462","wikidata":"https://www.wikidata.org/wiki/Q622437","display_name":"Alpha 1-antitrypsin deficiency","level":2,"score":0.8711620569229126},{"id":"https://openalex.org/C64943373","wikidata":"https://www.wikidata.org/wiki/Q2651003","display_name":"Alpha (finance)","level":4,"score":0.5460342168807983},{"id":"https://openalex.org/C2983914783","wikidata":"https://www.wikidata.org/wiki/Q3286546","display_name":"Lung disease","level":3,"score":0.5290861129760742},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5244284272193909},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.46032798290252686},{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.4497969150543213},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3789682388305664},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.27902162075042725},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20237931609153748},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.06703579425811768},{"id":"https://openalex.org/C49453240","wikidata":"https://www.wikidata.org/wiki/Q1592163","display_name":"Construct validity","level":3,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C2775944032","wikidata":"https://www.wikidata.org/wiki/Q22907659","display_name":"Patient satisfaction","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000229","descriptor_name":"Dependovirus","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000256","descriptor_name":"Adenoviridae","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000515","descriptor_name":"alpha 1-Antitrypsin","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005822","descriptor_name":"Genetic Vectors","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":"D010957","descriptor_name":"Plasmids","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011656","descriptor_name":"Pulmonary Emphysema","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D011656","descriptor_name":"Pulmonary Emphysema","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D015842","descriptor_name":"Serine Proteinase Inhibitors","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D019896","descriptor_name":"alpha 1-Antitrypsin Deficiency","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D019896","descriptor_name":"alpha 1-Antitrypsin Deficiency","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1513/annalsats.201506-344kv","doi":"https://doi.org/10.1513/annalsats.201506-344kv","is_oa":false,"landing_page_url":"https://doi.org/10.1513/annalsats.201506-344kv","pdf_url":null,"source":{"id":"https://openalex.org/S4210233309","display_name":"Annals of the American Thoracic Society","issn_l":"2325-6621","issn":["2325-6621","2329-6933"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310316311","host_organization_name":"American Thoracic Society","host_organization_lineage":["https://openalex.org/P4310316311"],"host_organization_lineage_names":["American Thoracic Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the American Thoracic Society","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5059492","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5059492","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ann Am Thorac Soc","raw_type":"Text"},{"id":"pmid:27564673","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27564673","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":"Annals of the American Thoracic Society","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:5059492","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5059492","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ann Am Thorac Soc","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6401864988","display_name":"Weill Cornell Program of Excellence in Gene Therapy","funder_award_id":"U01HL066952","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":152,"referenced_works":["https://openalex.org/W158273728","https://openalex.org/W168858771","https://openalex.org/W188582573","https://openalex.org/W201172153","https://openalex.org/W967062177","https://openalex.org/W1598347620","https://openalex.org/W1638613249","https://openalex.org/W1909623415","https://openalex.org/W1963728714","https://openalex.org/W1963861474","https://openalex.org/W1965307552","https://openalex.org/W1967028548","https://openalex.org/W1967357094","https://openalex.org/W1967436528","https://openalex.org/W1969246720","https://openalex.org/W1972060133","https://openalex.org/W1974825232","https://openalex.org/W1975048723","https://openalex.org/W1975285709","https://openalex.org/W1976172319","https://openalex.org/W1976329054","https://openalex.org/W1976990116","https://openalex.org/W1977372252","https://openalex.org/W1978515356","https://openalex.org/W1980401440","https://openalex.org/W1982680009","https://openalex.org/W1982698867","https://openalex.org/W1983728851","https://openalex.org/W1984183802","https://openalex.org/W1984702411","https://openalex.org/W1986297993","https://openalex.org/W1987498081","https://openalex.org/W1994946741","https://openalex.org/W1995666700","https://openalex.org/W1997237250","https://openalex.org/W1999619163","https://openalex.org/W1999760686","https://openalex.org/W2001556815","https://openalex.org/W2004099834","https://openalex.org/W2004406029","https://openalex.org/W2004776071","https://openalex.org/W2006076378","https://openalex.org/W2007026126","https://openalex.org/W2008895870","https://openalex.org/W2011371511","https://openalex.org/W2011762615","https://openalex.org/W2012104351","https://openalex.org/W2015986187","https://openalex.org/W2017646000","https://openalex.org/W2019785012","https://openalex.org/W2019927412","https://openalex.org/W2023534857","https://openalex.org/W2025560515","https://openalex.org/W2027500929","https://openalex.org/W2028266585","https://openalex.org/W2028719355","https://openalex.org/W2029244180","https://openalex.org/W2029638194","https://openalex.org/W2030483594","https://openalex.org/W2030555309","https://openalex.org/W2034071964","https://openalex.org/W2034355060","https://openalex.org/W2034696505","https://openalex.org/W2040981135","https://openalex.org/W2041350366","https://openalex.org/W2041397397","https://openalex.org/W2044642079","https://openalex.org/W2044956381","https://openalex.org/W2049285262","https://openalex.org/W2050821526","https://openalex.org/W2051595184","https://openalex.org/W2053755635","https://openalex.org/W2055022161","https://openalex.org/W2055324838","https://openalex.org/W2055413808","https://openalex.org/W2056325681","https://openalex.org/W2056410434","https://openalex.org/W2057548071","https://openalex.org/W2058864263","https://openalex.org/W2059401583","https://openalex.org/W2059769829","https://openalex.org/W2060917321","https://openalex.org/W2061260593","https://openalex.org/W2064146867","https://openalex.org/W2069502483","https://openalex.org/W2072194367","https://openalex.org/W2072771134","https://openalex.org/W2073346335","https://openalex.org/W2073642863","https://openalex.org/W2076624042","https://openalex.org/W2078321284","https://openalex.org/W2079330967","https://openalex.org/W2083120544","https://openalex.org/W2083557101","https://openalex.org/W2083867423","https://openalex.org/W2083966880","https://openalex.org/W2086099600","https://openalex.org/W2086808833","https://openalex.org/W2087080914","https://openalex.org/W2087513462","https://openalex.org/W2087816015","https://openalex.org/W2089695818","https://openalex.org/W2090378276","https://openalex.org/W2096498639","https://openalex.org/W2097395419","https://openalex.org/W2102402727","https://openalex.org/W2102793997","https://openalex.org/W2104992254","https://openalex.org/W2106468593","https://openalex.org/W2107111755","https://openalex.org/W2107119385","https://openalex.org/W2107198585","https://openalex.org/W2109254089","https://openalex.org/W2111232931","https://openalex.org/W2119128997","https://openalex.org/W2121349091","https://openalex.org/W2123496533","https://openalex.org/W2125160350","https://openalex.org/W2130698688","https://openalex.org/W2130880533","https://openalex.org/W2130915430","https://openalex.org/W2131095976","https://openalex.org/W2134826076","https://openalex.org/W2135677683","https://openalex.org/W2136866051","https://openalex.org/W2143864438","https://openalex.org/W2144217904","https://openalex.org/W2148670040","https://openalex.org/W2154235748","https://openalex.org/W2156463705","https://openalex.org/W2156560881","https://openalex.org/W2157876155","https://openalex.org/W2159567933","https://openalex.org/W2160690575","https://openalex.org/W2161340273","https://openalex.org/W2162602081","https://openalex.org/W2167271502","https://openalex.org/W2170205772","https://openalex.org/W2170756834","https://openalex.org/W2172201607","https://openalex.org/W2176002001","https://openalex.org/W2201681508","https://openalex.org/W2271330665","https://openalex.org/W2323886210","https://openalex.org/W2347068475","https://openalex.org/W2410028965","https://openalex.org/W2413481899","https://openalex.org/W2601839973","https://openalex.org/W4211049690","https://openalex.org/W4231964421","https://openalex.org/W4252214369","https://openalex.org/W7099363270"],"related_works":["https://openalex.org/W4407746385","https://openalex.org/W2894818418","https://openalex.org/W2146801292","https://openalex.org/W3043490206","https://openalex.org/W2129208675","https://openalex.org/W2099926048","https://openalex.org/W2081104353","https://openalex.org/W2048994051","https://openalex.org/W2011812800","https://openalex.org/W2019971999"],"abstract_inverted_index":{"Alpha-1":[0],"antitrypsin":[1],"(AAT)":[2],"deficiency,":[3],"characterized":[4],"by":[5],"low":[6],"plasma":[7],"levels":[8],"of":[9,23,46,56,73,79,89,106,112],"the":[10,24,54,71,77,95,103,110,113,121],"serine":[11],"protease":[12],"inhibitor":[13],"AAT,":[14],"is":[15,37,63,92],"associated":[16],"with":[17,33],"emphysema":[18],"secondary":[19],"to":[20,42,93,120],"insufficient":[21],"protection":[22],"lung":[25],"from":[26,49],"neutrophil":[27],"proteases.":[28],"Although":[29],"AAT":[30,35,47,99,107,117],"augmentation":[31],"therapy":[32,69,101,119],"purified":[34,48],"protein":[36,80],"efficacious,":[38],"it":[39],"requires":[40],"weekly":[41],"monthly":[43],"intravenous":[44],"infusion":[45],"pooled":[50],"human":[51],"plasma,":[52],"has":[53],"risk":[55],"viral":[57],"contamination":[58],"and":[59,62,82,85,109],"allergic":[60],"reactions,":[61],"costly.":[64],"As":[65],"an":[66],"alternative,":[67],"gene":[68,100,118],"offers":[70],"advantage":[72],"single":[74],"administration,":[75],"eliminating":[76],"burden":[78],"infusion,":[81],"reduced":[83],"risks":[84],"costs.":[86],"The":[87],"focus":[88],"this":[90],"review":[91],"describe":[94],"various":[96],"strategies":[97],"for":[98,102],"pulmonary":[104],"manifestations":[105],"deficiency":[108],"state":[111],"art":[114],"in":[115],"bringing":[116],"bedside.":[122]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":6},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-09-16T00:00:00"}