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Children and adults with NF1 suffer from pathologies including benign and malignant tumors to cognitive deficits, seizures, growth abnormalities, and peripheral neuropathies.\n                    <jats:italic>NF1<\/jats:italic>\n                    encodes neurofibromin, a Ras-GTPase activating protein, and\n                    <jats:italic>NF1<\/jats:italic>\n                    mutations result in hyperactivated Ras signaling in patients. Existing\n                    <jats:italic>NF1<\/jats:italic>\n                    mutant mice mimic individual aspects of NF1, but none comprehensively models the disease. We describe a potentially novel Yucatan miniswine model bearing a heterozygotic mutation in\n                    <jats:italic>NF1<\/jats:italic>\n                    (exon 42 deletion) orthologous to a mutation found in NF1 patients.\n                    <jats:italic>\n                      NF1\n                      <jats:sup>+\/ex42del<\/jats:sup>\n                    <\/jats:italic>\n                    miniswine phenocopy the wide range of manifestations seen in NF1 patients, including caf\u00e9 au lait spots, neurofibromas, axillary freckling, and neurological defects in learning and memory. Molecular analyses verified reduced neurofibromin expression in swine\n                    <jats:italic>\n                      NF1\n                      <jats:sup>+\/ex42del<\/jats:sup>\n                    <\/jats:italic>\n                    fibroblasts, as well as hyperactivation of Ras, as measured by increased expression of its downstream effectors, phosphorylated ERK1\/2, SIAH, and the checkpoint regulators p53 and p21. Consistent with altered pain signaling in NF1, dysregulation of calcium and sodium channels was observed in dorsal root ganglia expressing mutant\n                    <jats:italic>NF1<\/jats:italic>\n                    . Thus, these\n                    <jats:italic>\n                      NF1\n                      <jats:sup>+\/ex42del<\/jats:sup>\n                    <\/jats:italic>\n                    miniswine recapitulate the disease and provide a unique, much-needed tool to advance the study and treatment of NF1.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.120402","type":"journal-article","created":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T11:01:31Z","timestamp":1529492491000},"source":"Crossref","is-referenced-by-count":60,"title":["A porcine model of neurofibromatosis type 1 that mimics the human disease"],"prefix":"10.1172","volume":"3","author":[{"given":"Katherine A.","family":"White","sequence":"first","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicki J.","family":"Swier","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob T.","family":"Cain","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan L.","family":"Kohlmeyer","sequence":"additional","affiliation":[{"name":"Molecular Medicine Program,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1552-3253","authenticated-orcid":true,"given":"David K.","family":"Meyerholz","sequence":"additional","affiliation":[{"name":"Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munir R.","family":"Tanas","sequence":"additional","affiliation":[{"name":"Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Uthoff","sequence":"additional","affiliation":[{"name":"Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA."},{"name":"Department of Biomedical Engineering at the University of Iowa, Iowa City, Iowa, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Hammond","sequence":"additional","affiliation":[{"name":"Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA."},{"name":"Department of Biomedical Engineering at the University of Iowa, Iowa City, Iowa, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology and"},{"name":"University of Florida Health Cancer Center, University of Florida, Gainesville, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank A.","family":"Rohret","sequence":"additional","affiliation":[{"name":"Exemplar Genetics, Coralville, Iowa, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Goeken","sequence":"additional","affiliation":[{"name":"Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Hung","family":"Chan","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariah R.","family":"Leidinger","sequence":"additional","affiliation":[{"name":"Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaikamjad","family":"Umesalma","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret R.","family":"Wallace","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology and"},{"name":"University of Florida Health Cancer Center, University of Florida, Gainesville, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca D.","family":"Dodd","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA."},{"name":"Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Panzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy H.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Cell Biology, Leroy T. 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