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Isakson, Sara H; Rizzardi, Anthony E; Coutts, Alexander W; Carlson, Daniel F; Kirstein, Mark N; Fisher, James; Vitte, Jeremie; Williams, Kyle B; Pluhar, G Elizabeth; Dahiya, Sonika; Widemann, Brigitte C; Dombi, Eva; Rizvi, Tilat; Ratner, Nancy; Messiaen, Ludwine; Stemmer-Rachamimov, Anat O; Fahrenkrug, Scott C; Gutmann, David H; Giovannini, Marco; Moertel, Christopher L; Largaespada, David A; Watson, Adrienne L
Communications biology, 01/2018, Letnik: 1, Številka: 1Journal Article
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in ( ). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development. Many NF1 animal models have been developed, yet none display the spectrum of disease seen in patients and the translational impact of these models has been limited. We describe a minipig model that exhibits clinical hallmarks of NF1, including café au lait macules, neurofibromas, and optic pathway glioma. Spontaneous loss of heterozygosity is observed in this model, a phenomenon also described in NF1 patients. Oral administration of a mitogen-activated protein kinase/extracellular signal-regulated kinase inhibitor suppresses Ras signaling. To our knowledge, this model provides an unprecedented opportunity to study the complex biology and natural history of NF1 and could prove indispensable for development of imaging methods, biomarkers, and evaluation of safety and efficacy of NF1-targeted therapies.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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