[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-179626-105":59,"doc-detail-179626-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","gene-expression-profiling-of-prkaca-mutants-in-cushing-syndrome","Gene Expression Profiling of PRKACA Mutants in Cushing Syndrome","","Gene expression profiling distinguishes biological programs associated with PRKACA variants in adrenocortical adenomas causing Cushing syndrome. Comparative analyses between PRKACA L206R and wild-type groups report differences in endocrine biomarkers and identify upregulated and downregulated gene sets. Enrichment analyses of downregulated signatures highlight altered transcription regulation and multiple cellular processes, including lysosomal, endoplasmic reticulum, and Golgi-related pathways. Pathway mapping further links PRKACA-mutant networks to Wnt signaling regulation and broad oncogenic and differentiation-related routes.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/gene-expression-profiling-of-prkaca-mutants-in-cushing-syndrome/179626/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/gene-expression-profiling-of-prkaca-mutants-in-cushing-syndrome/179626.png","ImageObject",300,407,{"name":92,"@type":93},"Maeve","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-19","2026-09-02",true,{"@type":102,"interactionType":103,"userInteractionCount":44},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What is the main focus of the study regarding PRKACA?","Question",{"text":112,"@type":113},"The study investigates how PRKACA mutations relate to gene expression changes in adrenocortical adenomas associated with Cushing syndrome.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Which analyses are used to identify differences between PRKACA variants?",{"text":117,"@type":113},"It compares clinical characteristics and endocrine measurements, then performs gene expression profiling to find upregulated and downregulated genes, followed by enrichment analyses.",{"name":119,"@type":110,"acceptedAnswer":120},"What biological processes are enriched among downregulated genes in PRKACA mutants?",{"text":121,"@type":113},"Downregulated gene signatures are enriched for transcription-related regulation and multiple cellular compartments/processes, including lysosomal and endoplasmic reticulum-related pathways.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},179626,1788337611,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":44,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":129,"read_time":144,"preview_page_count":4},5909877438554,"https://ap-avatar.wpscdn.com/avatar/5600025385ad2bf12a7?_k=1778553567797529272","| Keywords: Adrenocortical adenomas; Cushing syndrome; Gene expression profiling; PRKACA mutation; Wnt signaling pathway |  |\n| --- | --- |\n| Received: 30 July 2021, Revised: 21 September 2021, Accepted: 14 October 2021\u003Cbr>Corresponding authors: Kyu Eun Lee\u003Cbr>Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea Tel: +82-2-2072-2081, Fax: +82-2-766-3975, [E-mail:](E-mail: kyueunlee@snu.ac.kr)[ kyueunlee@snu.ac.kr](E-mail: kyueunlee@snu.ac.kr)\u003Cbr>Jung Hee Kim\u003Cbr>Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea\u003Cbr>Tel: +82-2-2072-4839, Fax: +82-2-764-2199, E-mail:[jhee1@snu.ac.kr](jhee1@snu.ac.kr)\u003Cbr>*These authors contributed equally to this work. | Copyright © 2021 Korean Endocrine Society\u003Cbr>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ([https://creativecommons.org/](https://creativecommons.org/)[ ](https://creativecommons.org/)[licenses/by-nc/4.0/](licenses/by-nc/4.0/)) [which permits unrestricted non-commercial use](which permits unrestricted non-commercial use), distribution, and reproduction in any medium, provided the original work is properly cited. |\n\n| Characteristic | PRKACA |  | P\u003Cbr>value |\n| --- | --- | --- | --- |\n|  | L206R | Wild-type |  |\n| Number | 29 | 27 |  |\n| Age, yr | 43±11 | 42±14 | 0.664 |\n| Female sex | 25 (86.2) | 24 (88.9) | 0.762 |\n| BMI, kg/m2 | 26.1±5.2 | 25.0±4.3 | 0.424 |\n| Adenoma size, cm | 3.3±0.7 | 3.8±1.2 | 0.059 |\n| Serum cortisol after ODST, μg/dL | 19.7±5.2 | 19.3±5.6 | 0.816 |\n| 24-Hour urinary free cortisol, μg/dL | 376±278 | 540±446 | 0.177 |\n| Plasma ACTH, pg/mL | 15.6±10.3 | 15.8±10.1 | 0.958 |\n| DHEA-S, ng/mL | 218±180 | 1,511±3,307 | 0.001 |\n| Diabetes mellitus | 6 (20.7) | 6 (22.2) | 0.621 |\n| Hypertension | 19 (65.5) | 15 (55.6) | 0.585 |\n| Dyslipidemia | 8 (27.6) | 6 (22.2) | 0.761 |\n| Cardiovascular disease | 5 (17.2) | 0 | 0.052 |\n| Fracture | 4 (13.8) | 5 (18.5) | 0.725 |\n\n| Gene | Description | Log2FC | P value |\n| --- | --- | --- | --- |\n| Upregulated genes |  |  |  |\n| SNORA21B | Small nucleolar RNA, H/ACA box 55 | 1.92 | 0.005 |\n| CLCN5 | Chloride voltage-gated channel 5 | 1.32 | 0.016 |\n| ARSG | Arylsulfatase G | 1.26 | 0.047 |\n| TMEM217 | Transmembrane protein 217 | 1.16 | 0.017 |\n| SH3BGR | SH3 domain binding glutamate rich protein | 1.14 | 0.033 |\n| Downregulated genes |  |  |  |\n| LAMP5 | Lysosomal associated membrane protein family member 5 | –3.65 | 0.003 |\n| SLC27A6 | Solute carrier family 27 member 6 | –3.51 | \u003C0.001 |\n| VSNL1 | Visinin like 1 | –2.99 | 0.002 |\n| APCDD1 | APC downregulated 1 | –2.91 | 0.002 |\n| ALDH1L1 | Aldehyde dehydrogenase 1 family member L1 | –2.79 | 0.004 |\n| NAPSB | Napsin B aspartic peptidase, pseudogene | –2.41 | 0.004 |\n| CAB39L | Calcium binding protein 39 like | –2.37 | 0.003 |\n| JAM2 | Junctional adhesion molecule 2 | –2.35 | 0.001 |\n| KCNMB4 | Potassium calcium-activated channel subfamily M regulatory beta subunit 4 | –2.26 | \u003C0.001 |\n| C1orf115 | Chromosome 1 open reading frame 115 | –2.15 | 0.001 |\n| SMAGP | Small cell adhesion glycoprotein | –2.04 | 0.004 |\n| DKK3 | DickkopfWNT signaling pathway inhibitor 3 | –2.01 | 0.004 |\n| LEF1 | Lymphoid enhancer binding factor 1 | –1.99 | 0.001 |\n| SERINC5 | Serine incorporator 5 | –1.79 | 0.003 |\n| SESN3 | Sestrin 3 | –1.76 | 0.002 |\n\n| Table 3. Enriched Gene Ontology Terms of the Downregulated Genes in PRKACA Mutants |  |  |  |  |  |  |\n| --- | --- | --- | --- | --- | --- | --- |\n| GO term ID |  | GO term | Overlap | P value | Z-score | Combined score |\n| Biological | GO:0044273 | Sulfur compound catabolic process | 7/36 | 1.98E-07 | –1.94 | 30.00 |\n| processes | GO:0006027 | Glycosaminoglycan catabolic process | 7/57 | 5.07E-06 | –1.95 | 23.73 |\n|  | GO:0045892 | Negative regulation of transcription, DNA-tem","cbCaikVb1grKMHC9","https://ap.wps.com/l/cbCaikVb1grKMHC9","pdf",739090,11,"English","# Gene expression profiling comparisons\n## PRKACA L206R versus wild-type characteristics\n## Differentially expressed genes\n## Enriched Gene Ontology terms\n## Enriched pathway associations","[{\"question\":\"What is the main focus of the study regarding PRKACA?\",\"answer\":\"The study investigates how PRKACA mutations relate to gene expression changes in adrenocortical adenomas associated with Cushing syndrome.\"},{\"question\":\"Which analyses are used to identify differences between PRKACA variants?\",\"answer\":\"It compares clinical characteristics and endocrine measurements, then performs gene expression profiling to find upregulated and downregulated genes, followed by enrichment analyses.\"},{\"question\":\"What biological processes are enriched among downregulated genes in PRKACA mutants?\",\"answer\":\"Downregulated gene signatures are enriched for transcription-related regulation and multiple cellular compartments/processes, including lysosomal and endoplasmic reticulum-related pathways.\"}]","Gene Expression Profiling of PRKACA Mutants in Cushing Syndrome | PDF",28]