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Page 1
TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB. Cady J, et al. JAMA Neurol. 2014 Apr;71(4):449-53. doi: 10.1001/jamaneurol.2013.6237. JAMA Neurol. 2014. PMID: 24535663 Free PMC article.
PSORS2 is due to mutations in CARD14.
Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM. Jordan CT, et al. Am J Hum Genet. 2012 May 4;90(5):784-95. doi: 10.1016/j.ajhg.2012.03.012. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521418 Free PMC article.
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.
Sakai T, Miyazaki T, Shin DM, Kim YS, Qi CF, Fariss R, Munasinghe J, Wang H, Kovalchuk AL, Kothari PH, Fermaintt CS, Atkinson JP, Perrino FW, Yan N, Morse HC 3rd. Sakai T, et al. J Autoimmun. 2017 Jul;81:13-23. doi: 10.1016/j.jaut.2017.03.001. Epub 2017 Mar 18. J Autoimmun. 2017. PMID: 28325644 Free PMC article.
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Jordan CT, et al. Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521419 Free PMC article.
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, Alarcón-Riquelme ME, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown E, Edberg J, Stevens AM, Jacob CO, Tsao BP, Gilkeson GS, Kamen DL, Merrill JT, Petri M, Goldman RR, Vila LM, Anaya JM, Niewold TB, Martin J, Pons-Estel BA, Sabio JM, Callejas JL, Vyse TJ, Bae SC, Perrino FW, Freedman BI, Scofield RH, Moser KL, Gaffney PM, James JA, Langefeld CD, Kaufman KM, Harley JB, Atkinson JP. Namjou B, et al. Genes Immun. 2011 Jun;12(4):270-9. doi: 10.1038/gene.2010.73. Epub 2011 Jan 27. Genes Immun. 2011. PMID: 21270825 Free PMC article.
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