{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:00:58Z","timestamp":1771002058956,"version":"3.50.1"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"19","funder":[{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C24110\/A15394"],"award-info":[{"award-number":["C24110\/A15394"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,10,1]]},"DOI":"10.1093\/hmg\/ddx256","type":"journal-article","created":{"date-parts":[[2017,7,4]],"date-time":"2017-07-04T11:08:19Z","timestamp":1499166499000},"page":"3713-3721","source":"Crossref","is-referenced-by-count":20,"title":["SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C\u025b) impairing TORC2-dependent AKT activation"],"prefix":"10.1093","volume":"26","author":[{"given":"Diana","family":"Alcantara","sequence":"first","affiliation":[{"name":"Genome Damage and Stability Centre, University of Sussex, Brighton BN1\u20099RQ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[{"name":"South West Thames Regional Genetics Service, St. George\u2019s, University of London, London SW17\u20090RE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Tetreault","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre, Montreal, QC H3A 1A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Bareke","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre, Montreal, QC H3A 1A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taila","family":"Hartley","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Care4Rare Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre, Montreal, QC H3A 1A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kym","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada"},{"name":"Department of Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Micheil","family":"Innes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Alberta Children\u2019s Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, AB T2N 4N1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Dyment","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada"},{"name":"Department of Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"O\u2019Driscoll","sequence":"additional","affiliation":[{"name":"Genome Damage and Stability Centre, University of Sussex, Brighton BN1\u20099RQ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,7,6]]},"reference":[{"key":"key\n\t\t\t\t20180314010241_ddx256-B1","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/cge.12688","article-title":"Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management","volume":"89","author":"Avila","year":"2016","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B2","doi-asserted-by":"crossref","first-page":"e88766","DOI":"10.1172\/jci.insight.88766","article-title":"Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations","volume":"1","author":"Huang-Doran","year":"2016","journal-title":"JCI Insight"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B3","first-page":"39","article-title":"Malformation syndromes. A selected miscellany","volume":"11","author":"Gorlin","year":"1975","journal-title":"Birth Defects Orig. Artic. Ser"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B4","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ajhg.2013.06.005","article-title":"Mutations in PIK3R1 cause SHORT syndrome","volume":"93","author":"Dyment","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B5","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ajhg.2013.05.023","article-title":"SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling","volume":"93","author":"Chudasama","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B6","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.ajhg.2013.05.019","article-title":"PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy","volume":"93","author":"Thauvin-Robinet","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B7","doi-asserted-by":"crossref","first-page":"L429","DOI":"10.1152\/ajplung.2000.279.3.L429","article-title":"Protein kinase C isozymes and the regulation of diverse cell responses","volume":"279","author":"Dempsey","year":"2000","journal-title":"Am. J. Physiol. Lung Cell Mol. Physiol"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/nrm2847","article-title":"PKC and the control of localized signal dynamics","volume":"11","author":"Rosse","year":"2010","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B9","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1042\/BJ20110678","article-title":"mTORC2 targets AGC kinases through Sin1-dependent recruitment","volume":"439","author":"Cameron","year":"2011","journal-title":"Biochem. J"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B10","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1038\/emboj.2008.119","article-title":"Essential function of TORC2 in PKC and Akt turn motif phosphorylation, maturation and signalling","volume":"27","author":"Ikenoue","year":"2008","journal-title":"EMBO J"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B11","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1016\/j.cellsig.2013.05.001","article-title":"mTOR complex 2 mediates Akt phosphorylation that requires PKC\u03b5 in adult cardiac muscle cells","volume":"25","author":"Moschella","year":"2013","journal-title":"Cell Signal"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B12","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0898-6568(97)00098-3","article-title":"Potentiation of insulin-induced phosphatidylinositol-3 kinase activity by phorbol ester is mediated by protein kinase C epsilon","volume":"10","author":"Huang","year":"1998","journal-title":"Cell Signal"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B13","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.advenzreg.2009.10.004","article-title":"Protein kinase C\u2014a family of protein kinases, allosteric effectors or both?","volume":"50","author":"Cameron","year":"2010","journal-title":"Adv. Enzyme Regul"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B14","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1038\/nsmb.1606","article-title":"PKC maturation is promoted by nucleotide pocket occupation independently of intrinsic kinase activity","volume":"16","author":"Cameron","year":"2009","journal-title":"Nat. Struct. Mol. Biol"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B15","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.devcel.2007.03.020","article-title":"The two TORCs and Akt","volume":"12","author":"Bhaskar","year":"2007","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B16","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1038\/sj.onc.1209990","article-title":"Rapamycin induces feedback activation of Akt signaling through an IGF-1R-dependent mechanism","volume":"26","author":"Wan","year":"2006","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B17","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/j.celrep.2015.07.016","article-title":"A positive feedback loop between Akt and mTORC2 via SIN1 phosphorylation","volume":"12","author":"Yang","year":"2015","journal-title":"Cell Rep"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B18","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1002\/humu.22853","article-title":"A new homozygous IGF1R variant defines a clinically recognizable incomplete dominant form of SHORT syndrome","volume":"36","author":"Prontera","year":"2015","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B19","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1126\/science.1096706","article-title":"A family with severe insulin resistance and diabetes due to a mutation in AKT2","volume":"304","author":"George","year":"2004","journal-title":"Science"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B20","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1002\/ajmg.1320470619","article-title":"SHORT syndrome and insulin resistance","volume":"47","author":"Schwingshandl","year":"1993","journal-title":"Am. J. Med. Genet"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B21","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.1320150104","article-title":"Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes","volume":"15","author":"Aarskog","year":"1983","journal-title":"Am. J. Med. Genet"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B22","doi-asserted-by":"crossref","first-page":"61","DOI":"10.4137\/BCBCR.S13640","article-title":"Protein KINASE C-\u03b5 promotes EMT in breast cancer","volume":"8","author":"Jain","year":"2014","journal-title":"Breast Cancer (Auckl)"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B23","doi-asserted-by":"crossref","first-page":"860","DOI":"10.3390\/cancers6020860","article-title":"The multifunctional protein kinase C-\u03b5 in cancer development and progression","volume":"6","author":"Jain","year":"2014","journal-title":"Cancers (Basel)"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B24","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1016\/S0021-9258(18)46033-4","article-title":"Constitutive presence of a catalytic fragment of protein kinase C epsilon in a small cell lung carcinoma cell line","volume":"267","author":"Baxter","year":"1992","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B25","doi-asserted-by":"crossref","first-page":"6090","DOI":"10.1016\/S0021-9258(18)53223-3","article-title":"Overexpression of protein kinase C-delta and -epsilon in NIH 3T3 cells induces opposite effects on growth, morphology, anchorage dependence, and tumorigenicity","volume":"268","author":"Mischak","year":"1993","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B26","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/0014-5793(93)81759-S","article-title":"Unique expression pattern of protein kinase C-theta: high mRNA levels in normal mouse testes and in T-lymphocytic cells and neoplasms","volume":"326","author":"Mischak","year":"1993","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B27","first-page":"847","article-title":"Overexpression of protein kinase C epsilon is oncogenic in rat colonic epithelial cells","volume":"12","author":"Perletti","year":"1996","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B28","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1476-4598-8-9","article-title":"Protein kinase C epsilon: an oncogene and emerging tumor biomarker","volume":"8","author":"Gorin","year":"2009","journal-title":"Mol. Cancer"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B29","doi-asserted-by":"crossref","first-page":"D777","DOI":"10.1093\/nar\/gkw1121","article-title":"COSMIC: somatic cancer genetics at high-resolution","volume":"45","author":"Forbes","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B30","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.cell.2015.01.001","article-title":"Cancer-associated protein kinase C mutations reveal kinase\u2019s role as tumor suppressor","volume":"160","author":"Antal","year":"2015","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B31","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1002\/art.38008","article-title":"Protein kinase c\u03b4 deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation","volume":"65","author":"Belot","year":"2013","journal-title":"Arthritis Rheum"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B32","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1084\/jem.194.9.1231","article-title":"Protein kinase Cepsilon is required for macrophage activation and defense against bacterial infection","volume":"194","author":"Castrillo","year":"2001","journal-title":"J Exp Med"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B33","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1007\/s00125-012-2647-5","article-title":"Deletion of protein kinase C\u03b5 in mice has limited effects on liver metabolite levels but alters fasting ketogenesis and gluconeogenesis","volume":"55","author":"Raddatz","year":"2012","journal-title":"Diabetologia"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B34","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1007\/s00018-003-2337-z","article-title":"Protein kinase C-epsilon promotes adipogenic commitment and is essential for terminal differentiation of 3T3-F442A preadipocytes","volume":"60","author":"Webb","year":"2003","journal-title":"Cell. Mol. Life Sci"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B35","doi-asserted-by":"crossref","first-page":"e0161993","DOI":"10.1371\/journal.pone.0161993","article-title":"PKC-ALDH2 pathway plays a novel role in adipocyte differentiation","volume":"11","author":"Yu","year":"2016","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B36","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1101\/gad.913901","article-title":"Growth retardation and increased apoptosis in mice with homozygous disruption of the Akt1 gene","volume":"15","author":"Chen","year":"2001","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B37","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1101\/gad.1089403","article-title":"Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2","volume":"17","author":"Peng","year":"2003","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B38","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1172\/JCI84005","article-title":"PI3-kinase mutation linked to insulin and growth factor resistance in vivo","volume":"126","author":"Winnay","year":"2016","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B39","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180314010241_ddx256-B40","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/19\/3713\/24339763\/ddx256.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,21]],"date-time":"2025-06-21T04:46:10Z","timestamp":1750481170000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/26\/19\/3713\/3930115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,6]]},"references-count":40,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2017,7,6]]},"published-print":{"date-parts":[[2017,10,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx256","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,10,1]]},"published":{"date-parts":[[2017,7,6]]}}}