1 | IMD21, PRAAS5, PSMB10
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| Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
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| van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A.
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| Am J Hum Genet. Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18 2024
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2 | PSMB10
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| Evaluating the Role of Neddylation Modifications in Kidney Renal Clear Cell Carcinoma: An Integrated Approach Using Bioinformatics, MLN4924 Dosing Experiments, and RNA Sequencing
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| Liu D, Wu G, Wang S, Zheng X, Che X.
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| Pharmaceuticals (Basel) May 15;17(5):635. doi: 10.3390/ph17050635. 2024
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3 | IMD21, PSMB10
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| Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
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| Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E.
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| Front Immunol. Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. 2023
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4 | PSMB10
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| PSMB10, the last immunoproteasome gene missing for PRAAS
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| Sarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, BSarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I.onSarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I.det V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I.
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| J Allergy Clin Immunol. Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024. Epub 2019 Nov 26 2020
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5 | PSMB10
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| Novel Role for the Immunoproteasome Subunit PSMB10 in Angiotensin II-Induced Atrial Fibrillation in Mice.
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| Li J, Wang S, Bai J, Yang XL, Zhang YL, Che YL, Li HH, Yang YZ.
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| Hypertension May;71(5):866-876. doi: 10.1161/HYPERTENSIONAHA.117.10390. Epub 2018 Mar 5 2018
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6 | PSMB10
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| Loss at 16q22.1 identified as a risk factor for intrahepatic recurrence in hepatocellular carcinoma and screening of differentially expressed genes.
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| Chen L, Zhu ZZ, Liu SF, Wan X, Wen BJ, Jiang H, Zhu J, Cong WM.
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| Neoplasma 63(1):114-20. doi: 10.4149/neo_2016_014 2016
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7 | PSMB10, PSMB8
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| A critical role for the inducible proteasomal subunits LMP7 and MECL1 in cytokine production by activated murine splenocytes
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| Rockwell CE, Monaco JJ, Qureshi N.
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| Pharmacology. 89(3-4):117-26. doi: 10.1159/000336335. Epub 2012 Mar 7 2012
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8 | PSMB10, PSMB9
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| A novel role for the immunoproteasome in retinal function
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| Hussong SA, Roehrich H, Kapphahn RJ, Maldonado M, Pardue MT, Ferrington DA.
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| Invest Ophthalmol Vis Sci. Feb 9;52(2):714-23. doi: 10.1167/iovs.10-6032. 2011
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9 | PSMB10
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| Newly identified pair of proteasomal subunits regulated reciprocally by interferon gamma.
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| Hisamatsu H, et al.
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| J Exp Med 183 : 1807-1816. 1996
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10 | PSMB10
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| A third interferon-gamma-induced subunit exchange in the 20S proteasome.
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| Groettrup M, et al.
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| Eur J Immunol 26 : 863-869. 1996
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11 | CTRL, LCAT, PSKH1, PSMB10, SLC12A4
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| A tight cluster of five unrelated human genes on chromosome 16q22.1.
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| Larsen F, et al.
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| Hum Mol Genet 2 : 1589-1595. 1993
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