{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:05:50Z","timestamp":1791925550401,"version":"4.3.4"},"reference-count":52,"publisher":"National Academy of Sciences","issue":"11","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2014,3,18]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Stormorken syndrome is a rare autosomal-dominant genetic condition characterized by congenital miosis, bleeding diathesis, thrombocytopenia, and proximal muscle weakness. Other manifestations include functional or anatomical asplenia, ichthyosis, headaches, and dyslexia. A milder form of Stormorken syndrome is associated with muscle weakness and congenital miosis, but without hematologic abnormalities. Here we identify the gene mutations responsible for these syndromes and show that both conditions are caused by the hyperactivation of the Ca\n                    <jats:sup>2+<\/jats:sup>\n                    release-activated Ca\n                    <jats:sup>2+<\/jats:sup>\n                    (CRAC) channel. These findings contrast the pathologies associated with loss or diminished function of the CRAC channel, provide new molecular insights of the function of the CRAC channel, and suggest new approaches to combat these conditions by blocking CRAC channel activity.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1312520111","type":"journal-article","created":{"date-parts":[[2014,3,3]],"date-time":"2014-03-03T21:26:27Z","timestamp":1393881987000},"page":"4197-4202","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":243,"title":["Activating mutations in\n                    <i>STIM1<\/i>\n                    and\n                    <i>ORAI1<\/i>\n                    cause overlapping syndromes of tubular myopathy and congenital miosis"],"prefix":"10.1073","volume":"111","author":[{"given":"Vasyl","family":"Nesin","sequence":"first","affiliation":[{"name":"Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Wiley","sequence":"additional","affiliation":[{"name":"Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kousi","sequence":"additional","affiliation":[{"name":"Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E-Ching","family":"Ong","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lehmann","sequence":"additional","affiliation":[{"name":"Department of Hematology, Center for Laboratory Medicine, Kantonsspital St. Gallen, 9001 St. Gallen, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Nicholl","sequence":"additional","affiliation":[{"name":"Department of Neurology, City Hospital, Birmingham B18 7QH, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Nottingham Clinical Genetics Service, Nottingham University Hospitals National Health Service Trust, City Hospital Campus, Nottingham NG5 1PB, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nortina","family":"Shahrizaila","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Katsanis","sequence":"additional","affiliation":[{"name":"Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick M.","family":"Gaffney","sequence":"additional","affiliation":[{"name":"Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaas J.","family":"Wierenga","sequence":"additional","affiliation":[{"name":"Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonidas","family":"Tsiokas","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2014,3,3]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00057.2003"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/309063a0"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/355353a0"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.021908.132550"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3414"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2012.233353"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni.f.220"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200502019"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.134.3.771"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2005.05.055"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04147"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biochem-061609-165311"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0702866104"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200604015"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200604014"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a003970"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.02.014"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1842"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/334499a0"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.1.1.99"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04702"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20101597"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900082"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.007"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2008.09.020"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.2003425"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2007.12.050"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2012.05.057"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02209.x"},{"key":"e_1_3_3_30_2","first-page":"2853","article-title":"[Stormorken\u2019s syndrome]","volume":"122","author":"Stormorken H","year":"2002","unstructured":"H Stormorken, [Stormorken\u2019s syndrome]. 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