{"id":"https://openalex.org/W4389018982","doi":"https://doi.org/10.1096/fasebj.31.1_supplement.765.15","title":"The Regulatory Subunit Type I\u03b1 of Protein Kinase A: A Study of Carney Complex and Acrodysostosis Mutations","display_name":"The Regulatory Subunit Type I\u03b1 of Protein Kinase A: A Study of Carney Complex and Acrodysostosis Mutations","publication_year":2017,"publication_date":"2017-04-01","ids":{"openalex":"https://openalex.org/W4389018982","doi":"https://doi.org/10.1096/fasebj.31.1_supplement.765.15"},"language":"en","primary_location":{"id":"doi:10.1096/fasebj.31.1_supplement.765.15","doi":"https://doi.org/10.1096/fasebj.31.1_supplement.765.15","is_oa":false,"landing_page_url":"https://doi.org/10.1096/fasebj.31.1_supplement.765.15","pdf_url":null,"source":{"id":"https://openalex.org/S25293849","display_name":"The FASEB Journal","issn_l":"0892-6638","issn":["0892-6638","1530-6860"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"The FASEB Journal","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5026422851","display_name":"Jason C. Del Rio","orcid":"https://orcid.org/0000-0001-8540-2065","observed_orcids":["https://orcid.org/0000-0001-8540-2065"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jason C Del Rio","raw_affiliation_strings":["Pharmacology, UC San Diego, La Jolla, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pharmacology, UC San Diego, La Jolla, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033855637","display_name":"Cole Nielsen","orcid":"https://orcid.org/0000-0003-1263-9816","observed_orcids":["https://orcid.org/0000-0003-1263-9816"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cole R. Nielsen","raw_affiliation_strings":["Pharmacology, UC San Diego, La Jolla, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pharmacology, UC San Diego, La Jolla, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045962448","display_name":"Susan Serota Taylor","orcid":"https://orcid.org/0000-0002-7702-6108","observed_orcids":["https://orcid.org/0000-0002-7702-6108"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan S. Taylor","raw_affiliation_strings":["Pharmacology, UC San Diego, La Jolla, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pharmacology, UC San Diego, La Jolla, CA","institution_ids":["https://openalex.org/I36258959"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I36258959"],"apc_list":{"value":3740,"currency":"USD","value_usd":3740},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.27972795,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"31","issue":"S1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10169","display_name":"Protein Kinase Regulation and GTPase Signaling","score":0.8389000296592712,"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"}},"topics":[{"id":"https://openalex.org/T10169","display_name":"Protein Kinase Regulation and GTPase Signaling","score":0.8389000296592712,"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"}},{"id":"https://openalex.org/T12434","display_name":"Phosphodiesterase function and regulation","score":0.042899999767541885,"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"}},{"id":"https://openalex.org/T11178","display_name":"Receptor Mechanisms and Signaling","score":0.015200000256299973,"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/protein-kinase-a","display_name":"protein kinase A","score":0.8339999914169312},{"id":"https://openalex.org/keywords/carney-complex","display_name":"Carney complex","score":0.8059999942779541},{"id":"https://openalex.org/keywords/camp-signaling","display_name":"cAMP signaling","score":0.8500000238418579},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.8420000076293945},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8420000076293945},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7490000128746033},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.9120000004768372},{"id":"https://openalex.org/keywords/allosteric-regulation","display_name":"allosteric regulation","score":0.8820000290870667},{"id":"https://openalex.org/keywords/cardiac-myxoma","display_name":"cardiac myxoma","score":0.8579999804496765},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.6349999904632568},{"id":"https://openalex.org/keywords/drug-design","display_name":"drug design","score":0.578000009059906}],"concepts":[{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.6943386793136597},{"id":"https://openalex.org/C166342909","wikidata":"https://www.wikidata.org/wiki/Q845326","display_name":"Allosteric regulation","level":3,"score":0.6237289905548096},{"id":"https://openalex.org/C97029542","wikidata":"https://www.wikidata.org/wiki/Q281417","display_name":"Protein kinase A","level":3,"score":0.5378913283348083},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5164185166358948},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.49785494804382324},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4769805371761322},{"id":"https://openalex.org/C184235292","wikidata":"https://www.wikidata.org/wiki/Q421851","display_name":"Kinase","level":2,"score":0.4417431056499481},{"id":"https://openalex.org/C161473406","wikidata":"https://www.wikidata.org/wiki/Q24719569","display_name":"Gi alpha subunit","level":4,"score":0.4405668079853058},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4129689037799835},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3868681788444519},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.17812159657478333}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1096/fasebj.31.1_supplement.765.15","doi":"https://doi.org/10.1096/fasebj.31.1_supplement.765.15","is_oa":false,"landing_page_url":"https://doi.org/10.1096/fasebj.31.1_supplement.765.15","pdf_url":null,"source":{"id":"https://openalex.org/S25293849","display_name":"The FASEB Journal","issn_l":"0892-6638","issn":["0892-6638","1530-6860"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"The FASEB Journal","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.7246000170707703,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5471768970","display_name":"Graduate Training in Cellular and Molecular Pharmacology","funder_award_id":"T32GM007752","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3175909191","https://openalex.org/W4389028447","https://openalex.org/W2547692454","https://openalex.org/W344725619","https://openalex.org/W7203659013","https://openalex.org/W1608347926","https://openalex.org/W4389023917","https://openalex.org/W3016446940","https://openalex.org/W3163349169","https://openalex.org/W4386916344"],"abstract_inverted_index":{"cAMP\u2010dependent":[0],"Protein":[1],"Kinase":[2],"A":[3],"(PKA),":[4],"a":[5,104,154,230],"tetrameric":[6],"holoenzyme":[7],"comprised":[8],"of":[9,16,88,100,128,140,160,189,223,269],"two":[10,69,225],"Catalytic":[11],"(C)":[12],"and":[13,47,92,120,144,150,153,211,257],"one":[14],"dimer":[15],"Regulatory":[17],"(R)":[18],"subunits,":[19],"is":[20,41,48,54],"the":[21,30,42,49,80,86,101,158,171,196,202,209,250,266],"prototypical":[22],"kinase":[23],"in":[24,57,79,97,132,164,237,247,255],"response":[25],"to":[26,63,77,90,94,206],"intracellular":[27],"cAMP.":[28],"Of":[29],"four":[31],"functionally":[32],"non\u2010redundant":[33],"R":[34,51],"subunits":[35],"(RIa,":[36],"RIb,":[37],"RIIa,":[38],"RIIb),":[39],"RIa":[40,203],"dominant,":[43],"ubiquitously":[44],"expressed":[45],"isoform":[46],"only":[50],"subunit":[52,142,204],"which":[53,173],"embryonic":[55],"lethal":[56],"homozygous":[58],"mouse":[59],"knockout":[60],"models":[61],"due":[62],"defective":[64],"cardiogenesis":[65],"at":[66],"E8.5.":[67],"Recently,":[68],"rare":[70,105,226],"phenotypically":[71],"dichotomous":[72],"diseases":[73,227],"have":[74],"been":[75],"linked":[76],"mutations":[78,130,162,172,185],"same":[81],"gene":[82],"encoding":[83],"RIa.":[84],"Hindering":[85],"capacity":[87],"RI\u03b1":[89],"bind":[91],"respond":[93],"cAMP":[95],"results":[96],"overregulation":[98],"(inhibition)":[99],"C":[102,141],"subunit,":[103],"condition":[106],"called":[107],"Acrodysostosis":[108],"type":[109],"I":[110],"(ACRDYS1),":[111],"where":[112],"patients":[113,125],"display":[114],"severe":[115],"skeletal":[116],"defects,":[117],"mental":[118],"retardation,":[119],"hormonal":[121],"resistance.":[122],"In":[123],"contrast,":[124],"with":[126,146,186],"gain":[127],"function":[129],"result":[131,163],"Carney":[133],"Complex":[134],"(CNC)":[135],"disease,":[136],"caused":[137],"by":[138,249],"under\u2010regulation":[139],"activity,":[143],"present":[145,200],"lentigenosis,":[147],"recurrent":[148],"cutaneous":[149],"cardiac":[151],"myxomas,":[152],"Cushings\u2010like":[155],"endocrinopathy.":[156],"While":[157],"majority":[159],"CNC":[161],"happloinsufficiency":[165],"via":[166],"nonsense":[167],"mediated":[168],"decay":[169],"(NMD),":[170],"survive":[174],"NMD":[175],"implore":[176],"multiple":[177],"mechanisms":[178],"for":[179,217,233],"disease":[180,184],"manifestation.":[181],"Using":[182],"these":[183,224],"functional":[187],"effects":[188],"opposite":[190],"magnitude":[191],"will":[192,228],"provide":[193,229],"insight":[194],"into":[195],"allosteric":[197],"communication":[198],"networks":[199],"within":[201],"necessary":[205],"tightly":[207],"regulate":[208],"critical":[210],"finely":[212],"tuned":[213],"PKA":[214],"signaling":[215],"node":[216],"biological":[218],"processes.":[219],"Furthermore,":[220],"structural":[221],"studies":[222],"pharmacological":[231],"platform":[232],"rational":[234],"drug":[235],"design":[236],"their":[238],"treatment.":[239],"Support":[240],"or":[241],"Funding":[242],"Information":[243],"JCDR":[244],"was":[245],"supported":[246],"part":[248],"UCSD":[251],"Graduate":[252],"Training":[253],"Program":[254],"Cellular":[256],"Molecular":[258],"Pharmacology":[259],"through":[260],"an":[261],"institutional":[262],"training":[263],"grant":[264],"from":[265],"National":[267],"Institute":[268],"General":[270],"Medical":[271],"Sciences,":[272],"T32":[273],"GM007752":[274]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2023-11-27T00:00:00"}
