{"id":"https://openalex.org/W2968436256","doi":null,"title":"Candidate gene study of familial pulmonary fibrosis","display_name":"Candidate gene study of familial pulmonary fibrosis","publication_year":2019,"publication_date":"2019-06-25","ids":{"openalex":"https://openalex.org/W2968436256","mag":"2968436256"},"language":"en","primary_location":{"id":"pmh:oai:d-scholarship.pitt.edu:36216","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","pdf_url":"http://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004802622","display_name":"Rachel M. Sutton","orcid":"https://orcid.org/0000-0002-6133-0762","observed_orcids":["https://orcid.org/0000-0002-6133-0762"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Rachel M. Sutton","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6133-0762","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5004802622"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"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":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11026","display_name":"Occupational and environmental lung diseases","score":0.00019999999494757503,"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/T10728","display_name":"Pulmonary Hypertension Research and Treatments","score":9.999999747378752e-05,"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/idiopathic-pulmonary-fibrosis","display_name":"idiopathic pulmonary fibrosis","score":0.9160000085830688},{"id":"https://openalex.org/keywords/familial-pulmonary-fibrosis","display_name":"familial pulmonary fibrosis","score":0.9940000176429749},{"id":"https://openalex.org/keywords/telomere-maintenance-genes","display_name":"telomere maintenance genes","score":0.7960000038146973},{"id":"https://openalex.org/keywords/rtel1","display_name":"RTEL1","score":0.9950000047683716},{"id":"https://openalex.org/keywords/tert","display_name":"telomerase reverse transcriptase","score":0.9980000257492065},{"id":"https://openalex.org/keywords/candidate-gene-variants","display_name":"candidate gene variants","score":0.578000009059906},{"id":"https://openalex.org/keywords/interstitial-lung-disease","display_name":"interstitial lung disease","score":0.8209999799728394},{"id":"https://openalex.org/keywords/myelodysplastic-syndrome","display_name":"myelodysplastic syndrome","score":0.8809999823570251},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6660000085830688},{"id":"https://openalex.org/keywords/non-coding-variants","display_name":"non-coding variants","score":0.5830000042915344}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6200317740440369},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.5650001764297485},{"id":"https://openalex.org/C2778341716","wikidata":"https://www.wikidata.org/wiki/Q2290446","display_name":"Idiopathic pulmonary fibrosis","level":3,"score":0.5525986552238464},{"id":"https://openalex.org/C2779399171","wikidata":"https://www.wikidata.org/wiki/Q1483951","display_name":"Malignancy","level":2,"score":0.49869656562805176},{"id":"https://openalex.org/C2781244666","wikidata":"https://www.wikidata.org/wiki/Q32446","display_name":"Pulmonary fibrosis","level":3,"score":0.4841457009315491},{"id":"https://openalex.org/C2777543607","wikidata":"https://www.wikidata.org/wiki/Q1153419","display_name":"Interstitial lung disease","level":3,"score":0.4727783203125},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.45453837513923645},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.41023311018943787},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3668544292449951},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.34258633852005005},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.341705858707428},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26386013627052307},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.25256386399269104},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20606869459152222},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.16272157430648804}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:d-scholarship.pitt.edu:36216","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","pdf_url":"http://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},{"id":"mag:2968436256","doi":null,"is_oa":false,"landing_page_url":"http://d-scholarship.pitt.edu/36216/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:d-scholarship.pitt.edu:36216","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","pdf_url":"http://d-scholarship.pitt.edu/36216/7/Sutton_Rachel_Thesis_ETD_April2018.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2968436256.pdf","grobid_xml":"https://content.openalex.org/works/W2968436256.grobid-xml"},"referenced_works_count":73,"referenced_works":["https://openalex.org/W1548223836","https://openalex.org/W1923167648","https://openalex.org/W1944887940","https://openalex.org/W1954728404","https://openalex.org/W1973584891","https://openalex.org/W1981870037","https://openalex.org/W1985641439","https://openalex.org/W1988587503","https://openalex.org/W1994240340","https://openalex.org/W1996009087","https://openalex.org/W2001634286","https://openalex.org/W2011870650","https://openalex.org/W2016522113","https://openalex.org/W2025843494","https://openalex.org/W2035132012","https://openalex.org/W2036668098","https://openalex.org/W2036698875","https://openalex.org/W2038485127","https://openalex.org/W2040780433","https://openalex.org/W2041684380","https://openalex.org/W2044758458","https://openalex.org/W2047816315","https://openalex.org/W2051083934","https://openalex.org/W2051185208","https://openalex.org/W2055245602","https://openalex.org/W2057292199","https://openalex.org/W2068048355","https://openalex.org/W2078543812","https://openalex.org/W2080003994","https://openalex.org/W2086992094","https://openalex.org/W2095947403","https://openalex.org/W2107665433","https://openalex.org/W2108683967","https://openalex.org/W2111179083","https://openalex.org/W2117098575","https://openalex.org/W2117885404","https://openalex.org/W2125013258","https://openalex.org/W2127158291","https://openalex.org/W2134123335","https://openalex.org/W2135575254","https://openalex.org/W2135577046","https://openalex.org/W2136102567","https://openalex.org/W2136410669","https://openalex.org/W2140334695","https://openalex.org/W2144017344","https://openalex.org/W2145949861","https://openalex.org/W2148856655","https://openalex.org/W2150044222","https://openalex.org/W2157869208","https://openalex.org/W2162066400","https://openalex.org/W2162214374","https://openalex.org/W2163779649","https://openalex.org/W2163989802","https://openalex.org/W2164510886","https://openalex.org/W2165871186","https://openalex.org/W2166395296","https://openalex.org/W2167383172","https://openalex.org/W2167453600","https://openalex.org/W2168864180","https://openalex.org/W2462000645","https://openalex.org/W2540771245","https://openalex.org/W2543970179","https://openalex.org/W2581927130","https://openalex.org/W2585224414","https://openalex.org/W2611720143","https://openalex.org/W2734975932","https://openalex.org/W2750715393","https://openalex.org/W2766563327","https://openalex.org/W2770971738","https://openalex.org/W2803123649","https://openalex.org/W2803147178","https://openalex.org/W2907587664","https://openalex.org/W2913033835"],"related_works":["https://openalex.org/W4416635033","https://openalex.org/W4416637689","https://openalex.org/W2339884405","https://openalex.org/W2891394499","https://openalex.org/W2904294555","https://openalex.org/W4406001480","https://openalex.org/W2581927130","https://openalex.org/W7171845284","https://openalex.org/W7161570790","https://openalex.org/W2126215403"],"abstract_inverted_index":{"Rationale:":[0],"Idiopathic":[1],"Pulmonary":[2],"Fibrosis":[3],"(IPF)":[4],"is":[5,297],"a":[6,36,175,187],"progressively":[7],"fatal":[8],"interstitial":[9],"lung":[10],"disease":[11,142,257],"(ILD)":[12],"with":[13,50,179,246,255,287],"no":[14,226],"known":[15,227],"cure.":[16],"Pathogenic":[17],"variants":[18,92,106,206,229,273,285],"in":[19,29,164,207,280,304,342],"the":[20,63,109,195,208,217,231,305,320,328,338],"telomere":[21,140,209],"maintenance":[22,210],"and":[23,32,89,119,122,139,160,183,213,258,293,310,325],"surfactant":[24],"pathways":[25],"have":[26,153,204,249,300],"been":[27],"implicated":[28],"both":[30],"familial":[31,40,83,180,222,256],"sporadic":[33],"IPF,":[34],"although":[35],"significant":[37],"fraction":[38],"of":[39,48,53,70,82,125,137,216,233,270,307,323,330,340],"IPF":[41,54,138,288,308,343],"cases":[42],"remain":[43],"uncharacterized.":[44],"Methods:":[45],"A":[46,112],"panel":[47],"patients":[49,73,148,152,173,197,200,219,309],"clinical":[51,335],"diagnoses":[52],"were":[55,93,143,201,221],"selected":[56],"for":[57,66,103,117,261],"whole":[58],"genome":[59],"sequencing":[60],"(WGS)":[61],"at":[62],"Simmons":[64],"Center":[65],"Interstitial":[67],"Lung":[68],"Disease":[69],"UPMC.":[71],"Selected":[72],"had":[74,174,186,225],"comorbid":[75,188],"hematologic":[76,189],"malignancies":[77,136],"or":[78,239,277],"family":[79,127,176,250],"histories":[80,251],"suggestive":[81],"disease.":[84],"25X":[85],"WGS":[86],"was":[87,101,115],"performed":[88],"all":[90,104,126],"candidate":[91,105],"verified":[94],"by":[95,223,333],"bi-directional":[96],"sanger":[97],"sequencing.":[98],"Protein":[99],"alignment":[100],"done":[102],"to":[107,134,168,203,290,299,319],"determine":[108],"phylogenetic":[110],"conservation.":[111],"three-generation":[113],"pedigree":[114],"constructed":[116],"participants":[118],"included":[120,157],"ages":[121],"health":[123,332],"status":[124],"members,":[128],"if":[129],"known.":[130],"Targeted":[131],"questions":[132],"related":[133],"associated":[135,286],"mediated":[141],"additionally":[144],"ascertained.":[145],"Results:":[146],"Six":[147],"underwent":[149],"WGS,":[150],"two":[151,199,244],"pending":[154],"results.":[155],"Patients":[156],"three":[158,161],"women":[159],"men":[162],"ranging":[163],"age":[165],"from":[166],"60":[167],"83":[169],"years":[170],"old.":[171],"Five":[172],"history":[177],"consistent":[178,254],"pulmonary":[181],"fibrosis":[182],"one":[184],"patient":[185],"malignancy":[190],"(a":[191],"myelodysplastic":[192],"syndrome).":[193],"Of":[194],"four":[196,218],"sequenced,":[198],"found":[202],"exonic":[205,228],"genes":[211],"RTEL1":[212],"TERT.":[214],"Two":[215],"who":[220],"report":[224],"suggesting":[230],"possibility":[232],"noncoding":[234],"variants,":[235],"potentially":[236],"novel":[237],"genes,":[238],"shared":[240],"environmental":[241],"exposures.":[242],"The":[243],"patients,":[245],"results":[247],"pending,":[248],"that":[252],"are":[253,259],"concerning":[260],"telomere-related":[262],"co-morbidities.":[263],"Conclusions:":[264],"Future":[265],"studies":[266,276,314],"will":[267,317],"require":[268],"confirmation":[269],"these":[271,316],"new":[272],"through":[274],"functional":[275],"testing":[278],"segregation":[279],"affected":[281],"families.":[282,312],"As":[283],"genetic":[284,295],"continue":[289],"be":[291],"identified":[292],"characterized,":[294],"counseling":[296],"likely":[298],"an":[301],"increasing":[302],"place":[303],"management":[306],"their":[311],"Furthermore,":[313],"like":[315],"contribute":[318],"growing":[321],"body":[322],"literature":[324],"further":[326],"impact":[327],"field":[329],"public":[331],"improving":[334],"guidelines":[336],"on":[337],"use":[339],"genetics":[341],"management.":[344]},"counts_by_year":[],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2019-08-22T00:00:00"}
