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Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J. Holzinger D, et al. Among authors: aksentijevich i. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27. J Allergy Clin Immunol. 2015. PMID: 26025129 Free PMC article.
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. Tanaka N, et al. Among authors: aksentijevich i. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512. Arthritis Rheum. 2011. PMID: 21702021 Free PMC article.
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: aksentijevich i. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.
211 results