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Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2-associated immune dysregulation with cold urticaria (CU-PLAID).
medRxiv [Preprint]. 2024 Mar 19:2024.03.16.24304180. doi: 10.1101/2024.03.16.24304180.
medRxiv. 2024.
PMID: 38562814
Free PMC article.
Preprint.
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ.
Baysac K, et al.
J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036. Epub 2023 Sep 26.
J Allergy Clin Immunol. 2024.
PMID: 37769878
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Elevated DDX21 regulates c-Jun activity and rRNA processing in human breast cancers.
Zhang Y, Baysac KC, Yee LF, Saporita AJ, Weber JD.
Zhang Y, et al. Among authors: baysac kc.
Breast Cancer Res. 2014 Sep 28;16(5):449. doi: 10.1186/s13058-014-0449-z.
Breast Cancer Res. 2014.
PMID: 25260534
Free PMC article.
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Amyloid-β42 alters apolipoprotein E solubility in brains of mice with five familial AD mutations.
Youmans KL, Leung S, Zhang J, Maus E, Baysac K, Bu G, Vassar R, Yu C, LaDu MJ.
Youmans KL, et al. Among authors: baysac k.
J Neurosci Methods. 2011 Mar 15;196(1):51-9. doi: 10.1016/j.jneumeth.2010.12.025. Epub 2011 Jan 8.
J Neurosci Methods. 2011.
PMID: 21219931
Free PMC article.
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A highly toxic cellular prion protein induces a novel, nonapoptotic form of neuronal death.
Christensen HM, Dikranian K, Li A, Baysac KC, Walls KC, Olney JW, Roth KA, Harris DA.
Christensen HM, et al. Among authors: baysac kc.
Am J Pathol. 2010 Jun;176(6):2695-706. doi: 10.2353/ajpath.2010.091007. Epub 2010 May 14.
Am J Pathol. 2010.
PMID: 20472884
Free PMC article.
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The ascent of cat breeds: genetic evaluations of breeds and worldwide random-bred populations.
Lipinski MJ, Froenicke L, Baysac KC, Billings NC, Leutenegger CM, Levy AM, Longeri M, Niini T, Ozpinar H, Slater MR, Pedersen NC, Lyons LA.
Lipinski MJ, et al. Among authors: baysac kc.
Genomics. 2008 Jan;91(1):12-21. doi: 10.1016/j.ygeno.2007.10.009. Epub 2007 Dec 3.
Genomics. 2008.
PMID: 18060738
Free PMC article.
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Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds.
Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, Baysac KC, Mosher DS, Aguirre GD, Acland GM, Ostrander EA.
Parker HG, et al. Among authors: baysac kc.
Genome Res. 2007 Nov;17(11):1562-71. doi: 10.1101/gr.6772807. Epub 2007 Oct 4.
Genome Res. 2007.
PMID: 17916641
Free PMC article.
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The Tabby cat locus maps to feline chromosome B1.
Lyons LA, Bailey SJ, Baysac KC, Byrns G, Erdman CA, Fretwell N, Froenicke L, Gazlay KW, Geary LA, Grahn JC, Grahn RA, Karere GM, Lipinski MJ, Rah H, Ruhe MT, Bach LH.
Lyons LA, et al. Among authors: baysac kc.
Anim Genet. 2006 Aug;37(4):383-6. doi: 10.1111/j.1365-2052.2006.01458.x.
Anim Genet. 2006.
PMID: 16879352
Free PMC article.
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