{"id":"https://openalex.org/W2018183177","doi":"https://doi.org/10.1158/1538-7445.am2011-2118","title":"Abstract 2118: Phenotypic diversity of disease-associated transforming growth factor-\u03b2 (TGF-\u03b2) type I receptor gene (TGFBR1) mutants","display_name":"Abstract 2118: Phenotypic diversity of disease-associated transforming growth factor-\u03b2 (TGF-\u03b2) type I receptor gene (TGFBR1) mutants","publication_year":2011,"publication_date":"2011-04-01","ids":{"openalex":"https://openalex.org/W2018183177","doi":"https://doi.org/10.1158/1538-7445.am2011-2118","mag":"2018183177"},"language":"en","primary_location":{"id":"doi:10.1158/1538-7445.am2011-2118","doi":"https://doi.org/10.1158/1538-7445.am2011-2118","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.am2011-2118","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"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/A5108623258","display_name":"Diana S. Rosman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4390039325","display_name":"Rutgers Cancer Institute","ror":"https://ror.org/0060x3y55","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I102322142","https://openalex.org/I4390039302","https://openalex.org/I4390039325"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Diana S. Rosman","raw_affiliation_strings":["1UMDNJ-The Cancer Inst. of New Jersey, New Brunswick, NJ"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1UMDNJ-The Cancer Inst. of New Jersey, New Brunswick, NJ","institution_ids":["https://openalex.org/I4390039325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089912529","display_name":"Yana Bromberg","orcid":"https://orcid.org/0000-0002-8351-0844","observed_orcids":["https://orcid.org/0000-0002-8351-0844"]},"institutions":[{"id":"https://openalex.org/I102322142","display_name":"Rutgers, The State University of New Jersey","ror":"https://ror.org/05vt9qd57","country_code":"US","type":"education","lineage":["https://openalex.org/I102322142"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yana Bromberg","raw_affiliation_strings":["2Rutgers-The State University of New Jersey, New Brunswick, NJ"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Rutgers-The State University of New Jersey, New Brunswick, NJ","institution_ids":["https://openalex.org/I102322142"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085554521","display_name":"Aliyah M. Weinstein","orcid":"https://orcid.org/0000-0002-8556-3616","observed_orcids":["https://orcid.org/0000-0002-8556-3616"]},"institutions":[{"id":"https://openalex.org/I4390039325","display_name":"Rutgers Cancer Institute","ror":"https://ror.org/0060x3y55","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I102322142","https://openalex.org/I4390039302","https://openalex.org/I4390039325"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aliyah Weinstein","raw_affiliation_strings":["1UMDNJ-The Cancer Inst. of New Jersey, New Brunswick, NJ"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1UMDNJ-The Cancer Inst. of New Jersey, New Brunswick, NJ","institution_ids":["https://openalex.org/I4390039325"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065608952","display_name":"Michael Rei\u00df","orcid":"https://orcid.org/0000-0001-8543-8092","observed_orcids":["https://orcid.org/0000-0001-8543-8092"]},"institutions":[{"id":"https://openalex.org/I4390039325","display_name":"Rutgers Cancer Institute","ror":"https://ror.org/0060x3y55","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I102322142","https://openalex.org/I4390039302","https://openalex.org/I4390039325"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Reiss","raw_affiliation_strings":["1UMDNJ-The Cancer Inst. of New Jersey, New Brunswick, NJ"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1UMDNJ-The Cancer Inst. of New Jersey, New Brunswick, NJ","institution_ids":["https://openalex.org/I4390039325"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"71","issue":"8_Supplement","first_page":"2118","last_page":"2118"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.7979000210762024,"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/T11310","display_name":"Connective tissue disorders research","score":0.7979000210762024,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.11240000277757645,"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/T11501","display_name":"TGF-\u03b2 signaling in diseases","score":0.05770000070333481,"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/transforming-growth-factor-beta-receptor-1","display_name":"TGFBR1","score":0.9570000171661377},{"id":"https://openalex.org/keywords/tgf-beta-type-i-receptor","display_name":"TGF-beta type I receptor","score":0.902999997138977},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8989999890327454},{"id":"https://openalex.org/keywords/loeys-dietz-syndrome","display_name":"Loeys-Dietz syndrome","score":0.8529999852180481},{"id":"https://openalex.org/keywords/snap","display_name":"SNAP","score":0.42800000309944153},{"id":"https://openalex.org/keywords/protein-kinase-domain","display_name":"kinase domain","score":0.7229999899864197},{"id":"https://openalex.org/keywords/protein-kinase-activity","display_name":"protein kinase activity","score":0.6610000133514404},{"id":"https://openalex.org/keywords/mv1lu-cells","display_name":"Mv1Lu cells","score":0.7059999704360962},{"id":"https://openalex.org/keywords/constitutive-activation","display_name":"constitutive activation","score":0.44600000977516174},{"id":"https://openalex.org/keywords/disease-associated-mutations","display_name":"disease-associated mutations","score":0.5540000200271606},{"id":"https://openalex.org/keywords/protein-folding","display_name":"protein folding","score":0.36500000953674316}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7574878931045532},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6532541513442993},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.607596755027771},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5605308413505554},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5478668808937073},{"id":"https://openalex.org/C118131993","wikidata":"https://www.wikidata.org/wiki/Q423671","display_name":"Transforming growth factor","level":2,"score":0.4845203757286072},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4794008731842041},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.47710639238357544},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4712636470794678},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.47074609994888306},{"id":"https://openalex.org/C2779926675","wikidata":"https://www.wikidata.org/wiki/Q6943700","display_name":"Mutant protein","level":4,"score":0.4455288350582123},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.43440741300582886},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.38930073380470276},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.24937230348587036}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1538-7445.am2011-2118","doi":"https://doi.org/10.1158/1538-7445.am2011-2118","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.am2011-2118","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8371999859809875,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1998205969","https://openalex.org/W2739716090","https://openalex.org/W7140245469","https://openalex.org/W2099396948","https://openalex.org/W1585156891","https://openalex.org/W1665402587","https://openalex.org/W2398054934","https://openalex.org/W2002378645","https://openalex.org/W2424770255","https://openalex.org/W2981242246"],"abstract_inverted_index":{"Abstract":[0],"Transforming":[1],"Growth":[2],"Factor-\u03b2":[3],"(TGF-\u03b2)":[4],"inhibits":[5],"cell":[6],"growth":[7],"and":[8,14,21,90,204,249,263,272,306,314,319],"drives":[9],"of":[10,37,45,60,84,101,118,126,144,150,163,187,197,226,289,294,329,353,380,393,414,419],"epithelial-to-mesenchymal":[11],"transition,":[12],"invasion":[13],"migration.":[15],"Somatic":[16],"mutations":[17,32,49,61,80,169,228],"in":[18,27,75,81,98,190,209,244,286,350],"the":[19,34,38,46,54,115,124,145,151,164,224,240,260,279,287,292,295,327,330,351,354,391,415,420],"TGFBR1":[20,102,153,167,369,402],"-2":[22],"genes":[23],"have":[24,183,206,387],"been":[25,207],"found":[26],"cancer":[28,396],"(n=9),":[29],"while":[30,268,291,316],"germline":[31],"are":[33],"proximal":[35],"cause":[36],"Loeys-Dietz":[39],"aortic":[40],"aneurysm":[41],"syndrome":[42],"(LDS)(n=42).":[43],"Each":[44],"40":[47],"missense":[48,168],"associated":[50],"with":[51,78,395,401],"disease":[52],"affect":[53,62,86],"protein":[55,71],"kinase":[56,213,324,355,362,404],"domain.":[57,159],"The":[58,211],"majority":[59],"buried":[63],"residues,":[64],"where":[65],"biochemically":[66],"non-conservative":[67,132],"substitutions":[68,133],"may":[69],"disrupt":[70],"folding.":[72],"This":[73],"is":[74,300,336,345,363],"sharp":[76],"contrast":[77],"disease-associated":[79,152,166,368],"TGFBR2,":[82],"all":[83,130],"which":[85],"solvent":[87],"accessible":[88],"residues":[89],"likely":[91],"alter":[92],"protein-protein":[93],"interactions.":[94],"We":[95],"performed":[96],"an":[97],"silico":[99],"analysis":[100],"mutants":[103,154,189,265,371],"using":[104,239],"SNAP":[105,127],"(Screening":[106],"for":[107,129,390,399,423],"Non-Acceptable":[108],"Polymorphisms),":[109],"a":[110,185,191],"sequence-based":[111],"method":[112],"to":[113,139,177,298,310,333,339,347,382],"predict":[114,140],"functional":[116],"effects":[117],"single":[119],"amino":[120],"acid":[121],"substitutions.":[122],"First,":[123],"means":[125],"scores":[128],"possible":[131],"at":[134],"each":[135],"residue":[136],"were":[137,170,266,308],"used":[138],"functionally":[141],"important":[142,388],"domains":[143],"wild":[146,246,340],"type":[147,247,341],"protein.":[148],"All":[149],"was":[155,217],"located":[156],"within":[157],"such":[158],"Secondly,":[160],"35":[161],"(92%)":[162],"38":[165],"correctly":[171],"classified":[172],"as":[173,219],"non-neutral.":[174],"In":[175,257,366],"order":[176],"validate":[178],"these":[179,198,227],"predictions":[180],"experimentally,":[181],"we":[182,233],"constructed":[184],"library":[186],"HA-tagged":[188],"pcDNA3":[192],"backbone.":[193],"Thus":[194],"far,":[195],"six":[196],"(T200I,":[199],"K223E,":[200,270,318],"A230T,":[201,269],"K232E,":[202,262],"N267H,":[203,271],"S387Y)":[205],"characterized":[208],"detail.":[210],"known":[212],"inactive":[214],"K232R":[215,264,307],"mutant":[216,297,332,361],"included":[218],"negative":[220],"control.":[221],"To":[222],"determine":[223],"effect":[225],"on":[229],"TGF-\u03b2-regulated":[230],"gene":[231,370],"transcription,":[232],"carried":[234],"out":[235],"transient":[236],"transfection":[237],"assays":[238],"Smad-responsive":[241],"SBE4-Luc":[242,276,284],"reporter":[243],"both":[245],"(Mv1Lu)":[248],"TGFBR1-":[250],"deficient":[251],"(R1B)":[252],"mink":[253],"lung":[254],"epithelial":[255],"cells.":[256],"R1B":[258],"cells,":[259],"T200I,":[261,304],"inactive,":[267],"S387Y":[273,296],"restored":[274],"TGF-\u03b2-induced":[275],"responses.":[277],"Interestingly,":[278,326],"K223E":[280],"mutation":[281],"constitutively":[282,364],"activates":[283],"signaling":[285],"absence":[288],"TGF-\u03b2,":[290],"response":[293],"TGF-\u03b2":[299],"attenuated.":[301],"As":[302],"expected,":[303],"K232E":[305],"unable":[309],"phosphorylate":[311],"Smads":[312],"2":[313],"-3,":[315],"S387Y,":[317],"A230T":[320,344],"had":[321],"retained":[322],"their":[323],"activity.":[325],"ability":[328],"N267H":[331],"activate":[334],"pSmad2":[335,349],"attenuated":[337],"compared":[338],"TGFBR1.":[342],"Additionally,":[343],"able":[346],"induce":[348],"presence":[352],"inhibitor,":[356],"SD-093,":[357],"indicating":[358],"that":[359],"this":[360],"active.":[365],"conclusion,":[367],"display":[372],"considerable":[373],"phenotypic":[374],"diversity,":[375],"ranging":[376],"from":[377],"complete":[378],"loss":[379],"function":[381],"constitutive":[383],"activation.":[384],"These":[385],"findings":[386],"implications":[389],"selection":[392],"patients":[394],"or":[397],"LDS":[398],"treatment":[400],"selective":[403],"inhibitors.":[405],"Citation":[406],"Format:":[407],"{Authors}.":[408],"{Abstract":[409],"title}":[410],"[abstract].":[411],"In:":[412],"Proceedings":[413],"102nd":[416],"Annual":[417],"Meeting":[418],"American":[421],"Association":[422],"Cancer":[424,434],"Research;":[425],"2011":[426],"Apr":[427],"2-6;":[428],"Orlando,":[429],"FL.":[430],"Philadelphia":[431],"(PA):":[432],"AACR;":[433],"Res":[435],"2011;71(8":[436],"Suppl):Abstract":[437],"nr":[438],"2118.":[439],"doi:10.1158/1538-7445.AM2011-2118":[440]},"counts_by_year":[{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}
