1 | FES, JAK3, PLD2
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| A new signaling pathway (JAK-Fes-phospholipase D) that is enhanced in highly proliferative breast cancer cells.
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| Ye Q, Kantonen S, Henkels KM, Gomez-Cambronero J.
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| J Biol Chem 288(14):9881-91. doi: 10.1074/jbc.M113.450593. Epub 2013 Feb 12.
2013
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2 | JAK3
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| Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma.
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| Koo GC, Tan SY, Tang T, Poon SL, Allen GE, Tan L, Chong SC, Ong WS, Tay K, Tao M, Quek R, Loong S, Yeoh KW, Yap SP, Lee KA, Lim LC, Tan D, Goh C, Cutcutache I, Yu W, Ng CC, Rajasegaran V, Heng HL, Gan A, Ong CK, Rozen S, Tan P, Teh BT, Lim ST.
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| Cancer Discov 2(7):591-7. doi: 10.1158/2159-8290.CD-12-0028. Epub 2012 Jun 15.
2012
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3 | JAK1, JAK2, JAK3
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| JAK mutations in high-risk childhood acute lymphoblastic leukemia.
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| Mullighan CG, Zhang J, Harvey RC, Collins-Underwood JR, Schulman BA, Phillips LA, Tasian SK, Loh ML, Su X, Liu W, Devidas M, Atlas SR, Chen IM, Clifford RJ, Gerhard DS, Carroll WL, Reaman GH, Smith M, Downing JR, Hunger SP, Willman CL.
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| Proc Natl Acad Sci U S A 106(23):9414-8. Epub 2009 May 22.
2009
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4 | JAK2, JAK3, MPD, MPL
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| JAK and MPL mutations in myeloid malignancies.
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| Tefferi A.
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| Leuk Lymphoma 49(3):388-97. Review. 2008
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5 | JAK3
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| Activating mutations in human acute megakaryoblastic leukemia.
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| Malinge S, Ragu C, Della-Valle V, Pisani D, Constantinescu SN, Perez C, Villeval JL, Reinhardt D, Landman-Parker J, Michaux L, Dastugue N, Baruchel A, Vainchenker W, Bourquin JP, Penard-Lacronique V, Bernard OA.
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| Blood 112(10):4220-6. Epub 2008 Aug 28.
2008
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6 | JAK1, JAK3
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| Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers.
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| Jeong EG, Kim MS, Nam HK, Min CK, Lee S, Chung YJ, Yoo NJ, Lee SH.
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| Clin Cancer Res 14(12):3716-21.
2008
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7 | JAK3
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| Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
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| De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J.
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| Br J Haematol 137(4):337-41.
2007
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8 | JAK3
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| Activating alleles of JAK3 in acute megakaryoblastic leukemia.
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| Walters DK, Mercher T, Gu TL, O'Hare T, Tyner JW, Loriaux M, Goss VL, Lee KA, Eide CA, Wong MJ, Stoffregen EP, McGreevey L, Nardone J, Moore SA, Crispino J, Boggon TJ, Heinrich MC, Deininger MW, Polakiewicz RD, Gilliland DG, Druker BJ.
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| Cancer Cell 10(1):65-75.
2006
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9 | JAK3
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| Characterization and analysis of the proximal Janus kinase 3 promoter.
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| Aringer M, Hofmann SR, Frucht DM, Chen M, Centola M, Morinobu A, Visconti R, Kastner DL, Smolen JS, O'Shea JJ.
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| J Immunol 170(12):6057-64. 2003
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10 | JAK3, SCIDJ
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| Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
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| Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF.
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| Hum Mutat 18(4):255-63. 2001
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11 | JAK3, SCIDJ
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| Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
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| Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD.
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| Hum Genet 106:73-79 2000
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12 | JAK3, SCIDJ
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| Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain.
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| Cacalano NA, et al.
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| EMBO J 18(6):1549-1558. 1999
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13 | JAK3
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| Revised exon-intron structure of human JAK3 locus.
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| Brooimans RA, van der Slot AJ, van den Berg AJ, Zegers BJ.
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| Eur J Hum Genet 7(7):837-40. 1999
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14 | JAK3
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| JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors.
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| Hoffman SM, Lai KS, Tomfohrde J, Bowcock A, Gordon LA, Mohrenweiser HW.
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| Genomics 43(1):109-11. 1997
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15 | CYP2B, CYP2B6, CYP2B7P1, CYP2F1, EPOR, HERVK10T, JAK3, RRAS, ZNF134, ZNF14, ZNF44, ZNF91, ZNF97
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| Positioning of 72 potentially full size LTRs of human endogenous retroviruses HERV-K on the human chromosome 19 map. Occurrences of the LTRs in human gene sites.
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| Vinogradova T, Volik S, Lebedev Y, Shevchenko Y, Lavrentyeva I, Khil P, Grzeschik KH, Ashworth LK, Sverdlov E.
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| Gene 199(1-2):255-64. 1997
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16 | INSL3, JAK3
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| JAK3: expression and mapping to chromosome 19p12-13.1.
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| Safford MG, Levenstein M, Tsifrina E, Amin S, Hawkins AL, Griffin CA, Civin CI, Small D.
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| Exp Hematol 25(5):374-86. 1997
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17 | JAK1, JAK3
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| Janus kinases in interleukin-2-mediated signaling: JAK1 and JAK3 are differentially regulated by tyrosine phosphorylation.
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| Liu KD, Gaffen SL, Goldsmith MA, Greene WC.
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| Curr Biol 7(11):817-26. 1997
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18 | JAK3
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| Genomic sequence, organization, and chromosomal localization of human JAK3.
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| Riedy MC, et al.
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| Genomics 37 : 57-61. 1996
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19 | JAK3
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| Structural organization and chromosomal mapping of JAK3 locus.
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| Kumar A, et al.
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| Oncogene 13 : 2009-2014. 1996
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20 | JAK3, SCIDJ
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| Mutations of JAK-3 gene in patients with autosomal severe combined immune deficiency (SCID).
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| Macchi P, et al.
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| Nature 377 : 65-68. 1995
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21 | JAK3, SCIDJ
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| Mutation of Jak3 in a patient with SCID : essential role of Jak3 in lymphoid development.
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| Russell SM, et al.
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| Science 270 : 797-800. 1995
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22 | JAK3
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| Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes.
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| Kawamura M, et al.
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| Proc Natl Acad Sci U S A 91 : 6374-6378. 1994
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23 | JAK3
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| JAK3 : a novel JAK kinase associated with terminal differentiation of hematopoietic cells.
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| Rane SG, et al.
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| Oncogene 9 : 2415-2423. 1994
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