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Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, Lapidus S, Katz AE; Genomic Ascertainment Cohort; Feder HM Jr, Lawton M, Licameli GR, Wright PF, Le J, Barron KS, Ombrello AK, Barham B, Romeo T, Jones A, Srinivasalu H, Mudd PA, DeBiasi RL, Gül A, Marshall GS, Jones OY, Chandrasekharappa SC, Stepanovskiy Y, Ferguson PJ, Schwartzberg PL, Remmers EF, Kastner DL. Manthiram K, et al. Among authors: schwartzberg pl. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411. doi: 10.1073/pnas.2002051117. Epub 2020 Jun 9. Proc Natl Acad Sci U S A. 2020. PMID: 32518111 Free PMC article.
Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP.
Czar MJ, Kersh EN, Mijares LA, Lanier G, Lewis J, Yap G, Chen A, Sher A, Duckett CS, Ahmed R, Schwartzberg PL. Czar MJ, et al. Among authors: schwartzberg pl. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7449-54. doi: 10.1073/pnas.131193098. Epub 2001 Jun 12. Proc Natl Acad Sci U S A. 2001. PMID: 11404475 Free PMC article.
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.
Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Lindhurst MJ, et al. Among authors: schwartzberg pl. Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. doi: 10.1073/pnas.0607661103. Epub 2006 Oct 11. Proc Natl Acad Sci U S A. 2006. PMID: 17035501 Free PMC article.
A mouse model of Proteus syndrome.
Lindhurst MJ, Brinster LR, Kondolf HC, Shwetar JJ, Yourick MR, Shiferaw H, Keppler-Noreuil KM, Elliot G, Rivas C, Garrett L, Gomez-Rodriguez J, Sebire NJ, Hewitt SM, Schwartzberg PL, Biesecker LG. Lindhurst MJ, et al. Among authors: schwartzberg pl. Hum Mol Genet. 2019 Sep 1;28(17):2920-2936. doi: 10.1093/hmg/ddz116. Hum Mol Genet. 2019. PMID: 31194862 Free PMC article.
190 results