| 1 | CSF1R, DOSBF
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| Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
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| Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.
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| Am J Hum Genet 104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.
2019
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| 2 | CSF1R, SALL1
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| Sall1 is a transcriptional regulator defining microglia identity and function.
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| Buttgereit A, Lelios I, Yu X, Vrohlings M, Krakoski NR, Gautier EL, Nishinakamura R, Becher B, Greter M.
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| Nat Immunol 17(12):1397-1406. doi: 10.1038/ni.3585. Epub 2016 Oct 24. Erratum in: Nat Immunol. 2017 Jan 19;18(2):246.
2016
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| 3 | CSF1R, FOS, MAP2K5, MAPK7
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| ERK5 activation is essential for osteoclast differentiation.
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| Amano S, Chang YT, Fukui Y.
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| PLoS One 10(4):e0125054. doi: 10.1371/journal.pone.0125054. eCollection 2015.
2015
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| 4 | CSF1R
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| CSF-1 receptor-dependent colon development, homeostasis and inflammatory stress response.
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| Huynh D, Akçora D, Malaterre J, Chan CK, Dai XM, Bertoncello I, Stanley ER, Ramsay RG.
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| PLoS One 8(2):e56951. doi: 10.1371/journal.pone.0056951. Epub 2013 Feb 22.
2013
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| 5 | CSF1R, HDLS, POLD
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| CSF1R mutations link POLD and HDLS as a single disease entity.
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| Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R.
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| Neurology 80(11):1033-40. doi: 10.1212/WNL.0b013e31828726a7. Epub 2013 Feb 13.
2013
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| 6 | CSF1R
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| The function of the conserved regulatory element within the second intron of the mammalian Csf1r locus.
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| Sauter KA, Bouhlel MA, O'Neal J, Sester DP, Tagoh H, Ingram RM, Pridans C, Bonifer C, Hume DA.
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| PLoS One 8(1):e54935. doi: 10.1371/journal.pone.0054935. Epub 2013 Jan 31.
2013
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| 7 | CSF1R, HDLS
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| Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.
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| Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S.
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| J Neurol 260(2):558-71. doi: 10.1007/s00415-012-6680-6. Epub 2012 Sep 30. Review.
2013
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| 8 | CSF1R, HDLS
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| CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
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| Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
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| Am J Med Genet B Neuropsychiatr Genet 159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4.
2012
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| 9 | CSF1R, HDLS
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| MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
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| Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK.
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| Neurology 79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25.
2012
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| 10 | CSF1R
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| Functional CSF-1 receptors are located at the nuclear envelope and activated via the p110δ isoform of PI 3-kinase.
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| Zwaenepoel O, Tzenaki N, Vergetaki A, Makrigiannakis A, Vanhaesebroeck B, Papakonstanti EA.
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| FASEB J 26(2):691-706. doi: 10.1096/fj.11-189753. Epub 2011 Nov 11.
2012
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| 11 | CSF1R, PSTPIP2
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| PSTPIP2 deficiency in mice causes osteopenia and increased differentiation of multipotent myeloid precursors into osteoclasts.
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| Chitu V, Nacu V, Charles JF, Henne WM, McMahon HT, Nandi S, Ketchum H, Harris R, Nakamura MC, Stanley ER.
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| Blood 120(15):3126-35. doi: 10.1182/blood-2012-04-425595. Epub 2012 Aug 24. 2012
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| 12 | CSF1R, IL34
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| The critical role of IL-34 in osteoclastogenesis.
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| Chen Z, Buki K, Vääräniemi J, Gu G, Väänänen HK.
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| PLoS One 6(4):e18689.
2011
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| 13 | CSF1R, GAB2
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| Gab2 promotes colony-stimulating factor 1-regulated macrophage expansion via alternate effectors at different stages of development.
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| Lee AW, Mao Y, Penninger JM, Yu S.
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| Mol Cell Biol 31(22):4563-81. doi: 10.1128/MCB.05706-11. Epub 2011 Sep 19.
2011
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| 14 | CSF1R, HDLS
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| Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
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| Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK.
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| Nat Genet 44(2):200-5. doi: 10.1038/ng.1027.
2011
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| 15 | CSF1R
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| Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits.
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| Erblich B, Zhu L, Etgen AM, Dobrenis K, Pollard JW.
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| PLoS One 6(10):e26317. doi: 10.1371/journal.pone.0026317. Epub 2011 Oct 27.
2011
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| 16 | CSF1R, THOC5
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| THOC5 couples M-CSF receptor signaling to transcription factor expression.
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| Carney L, Pierce A, Rijnen M, Gonzalez Sanchez MB, Hamzah HG, Zhang L, Tamura T, Whetton AD.
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| Cell Signal 21(2):309-16. Epub 2008 Nov 5.
2009
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| 17 | CSF1R
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| Gene deregulation and spatial genome reorganization near breakpoints prior to formation of translocations in anaplastic large cell lymphoma.
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| Mathas S, Kreher S, Meaburn KJ, Jöhrens K, Lamprecht B, Assaf C, Sterry W, Kadin ME, Daibata M, Joos S, Hummel M, Stein H, Janz M, Anagnostopoulos I, Schrock E, Misteli T, Dörken B.
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| Proc Natl Acad Sci U S A 106(14):5831-6. Epub 2009 Mar 25.
2009
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| 18 | CSF1R, HCK
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| Dys-regulated activation of a Src tyroine kinase Hck at the Golgi disturbs N-glycosylation of a cytokine receptor Fms.
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| Hassan R, Suzu S, Hiyoshi M, Takahashi-Makise N, Ueno T, Agatsuma T, Akari H, Komano J, Takebe Y, Motoyoshi K, Okada S.
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| J Cell Physiol 221(2):458-68.
2009
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| 19 | CSF1, CSF1R
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| Toll-like receptors stimulate regulated intramembrane proteolysis of the CSF-1 receptor through Erk activation.
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| Glenn G, van der Geer P.
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| FEBS Lett 582(6):911-5. Epub 2008 Feb 21. 2008
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| 20 | CSF1R
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| The transcriptional regulation of the Colony-Stimulating Factor 1 Receptor (csf1r) gene during hematopoiesis.
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| Bonifer C, Hume DA.
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| Front Biosci 13:549-60. Review.
2008
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| 21 | CSF1R, IL34
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| Discovery of a cytokine and its receptor by functional screening of the extracellular proteome.
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| Lin H, Lee E, Hestir K, Leo C, Huang M, Bosch E, Halenbeck R, Wu G, Zhou A, Behrens D, Hollenbaugh D, Linnemann T, Qin M, Wong J, Chu K, Doberstein SK, Williams LT.
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| Science 320(5877):807-11.
2008
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| 22 | CSF1R, RBM6
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| A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia.
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| Gu TL, Mercher T, Tyner JW, Goss VL, Walters DK, Cornejo MG, Reeves C, Popova L, Lee K, Heinrich MC, Rush J, Daibata M, Miyoshi I, Gilliland DG, Druker BJ, Polakiewicz RD.
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| Blood 110(1):323-33. Epub 2007 Mar 14.
2007
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| 23 | CSF1R
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| Autocrine CSF-1R activation promotes Src-dependent disruption of mammary epithelial architecture.
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| Wrobel CN, Debnath J, Lin E, Beausoleil S, Roussel MF, Brugge JS.
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| J Cell Biol 165(2):263-73.
2004
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| 24 | CSF1R, FGF1, IRF1
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| Linkage and allelic association of chromosome 5 cytokine cluster genetic markers with atopy and asthma associated traits.
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| Walley AJ, Wiltshire S, Ellis CM, Cookson WO.
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| Genomics 72(1):15-20. 2001
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| 25 | CSF1R, D5S2360, D5S2908, D5S2909, D5S2910, D5S2911, D5S2912, D5S2913, D5S2914, D5S2915, D5S2916, D5S2917, D5S2918, D5S2919, D5S2920, D5S2921, D5S2923, D5S2924, GABRA1, GRIA1, IL12B, TCOF1
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| Integrated physical and transcript map of 5q31.3-qter.
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| Kostrzewa M, et al.
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| Eur J Hum Genet 6 : 266-274. 1998
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| 26 | CSF1R
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| Biological consequences of a point mutation at codon 969 of the FMS gene.
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| McGlynn H, et al.
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| Leuk Res 22 : 365-372. 1998
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| 27 | CSF1R, HMGXB3, KIT
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| Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes.
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| Andre C, Hampe A, Lachaume P, Martin E, Wang XP, Manus V, Hu WX, Galibert F.
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| Genomics 39 : 216-226. 1997
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| 28 | CSF1R
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| Molecular mapping of uncharacteristically small 5q deletions in two patients with the 5q-syndrome : delineation of the critical region on 5q and identification of a 5q-breakpoint.
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| Boultwood J, et al.
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| Genomics 19 : 425-432. 1994
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| 29 | CSF1R, RPL7P
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| The first intron of human c-fms proto-oncogene contains a processed pseudogene (RPL7P) for ribosomal protein L7.
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| Sapi E, Flick MB, Kacinski BM.
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| Genomics 22(3):641-5. 1994
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| 30 | CSF1R
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| Order of human hematopoietic growth factor and receptor genes on the long arm of chromosome 5, as determined by fluorescence in situ hybridization.
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| Kluck PMC, et al.
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| Ann Hematol 66 : 15-20. 1993
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| 31 | CSF1R, ADRB2
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| A physical map of 15 loci on human chromosome 5q23-q33 by two-color fluorescence in situ hybridization.
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| Saltman DL, et al.
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| Genomics 16 : 726-732. 1993
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| 32 | ADRB2, CD14, CSF1R, FGF1, GABRA1, IL3, IL9, GABRG2
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| A radiation hybrid map of 18 growth factor , growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5.
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| Warrington JA, et al.
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| Genomics 13 : 803-808. 1992
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| 33 | DTD, CSF1R
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| Linkage disequilibrium mapping in isolated founder populations : diastrophic dysplasia in Finland.
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| HŠstbacka J, et al.
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| Nat Genet 2 : 204-211. 1992
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| 34 | BCR, RAF1, ERBB2, CSF1R
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| Metaphase and interphase cytogenetics with Alu-PCR-amplified yeast artificial chromosome clones containing the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erbB-2.
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| Lengauer C, et al.
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| Cancer Res 52 : 2590-2596. 1992
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| 35 | APOE, CSF1R
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| Increased apolipoprotein E and c-fms gene expression without elevated interleukin 1 or 6 mRNA levels indicates selective activation of macrophage functions in advanced human atheroma.
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| Salomon RN, et al.
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| Proc Natl Acad Sci U S A 89 : 2814-2818. 1992
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| 36 | CSF1R
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| Rare point mutation at codon 301 and 969 of FMS/M-CSF receptor in acute myelomonocytic and monocytic leukemia.
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| Natazuka T, et al.
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| Leuk Res 16 : 541-543. 1992
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| 37 | CSF1R
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| A frequent EcoRI RFLP demonstrated within the human M-CSF receptor gene (CSF1R).
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| Felgner J, et al.
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| Nucleic Acids Res 19 : 5096. 1991
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| 38 | CSF1R
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| Dinucleotide repeat polymorphism at the human c-fms proto-oncogene for the CFS-1 receptor (CFS1R).
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| Polymeropoulos MH, et al.
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| Nucleic Acids Res 19 : 1160. 1991
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| 39 | CSF1R
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| FMS mutations in myelodysplastic, leukemic, and normal subjects.
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| Ridge SA, et al.
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| Proc Natl Acad Sci U S A 87 : 1377-1380. 1990
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| 40 | FIM1, CSF1R, FIM3
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| The human homologues of Fim1,Fim2/c-Fms, and Fim3, three retroviral integration regions involved in mouse myeloblastic leukemias, are respectively located on chromosomes 6p23, 5q33, and 3q27.
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| Nguyen Van Cong, et al.
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| Hum Genet 81 : 257-263. 1989
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| 41 | CSF1R
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| Previously unreported NcoI RFLP for human CSF1R.
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| Angert E, Nagarajan L, Huebner K.
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| Nucleic Acids Res 17 : 2153. 1989
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| 42 | CSF1R, PDGFRB
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| Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes.
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| Roberts WM, Look AT, Roussel MF, Sherr CJ.
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| Cell 55(4):655-61. 1988
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| 43 | CSF1R, FIM3
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| Assignment of Fim-2(CSF1R) to chromosome 5q33 (in situ hybridization) and Fim-3 to chromosome 3 (somatic cell analysis) region 3q27 (in situ hybridization).
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| Nguyen Van Cong, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 670. 1987
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| 44 | CSF1R, CSF2
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| Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders.
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| Le Beau MM, et al.
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| Science 231 : 984-987. 1986
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| 45 | CSF1R
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| Human c-fms protooncogene : comparative analysis with an abnormal allele.
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| Verbeek JS, et al.
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| Mol Cell Biol 5 : 422-426. 1985
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| 46 | CSF1R
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| Restriction fragment length polymorphism of the human c-fms gene.
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| De Qi Xu, et al.
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| Proc Natl Acad Sci U S A 82 : 2862-2865. 1985
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| 47 | CSF1R
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| Regional assignment of the human c-fms oncogene to band q34 of chromosome 5.
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| Groffen J, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 484. 1984
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| 48 | CSF1R
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| Molecular cloning of the c-fms locus and its assignment to humanchromosome 5.
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| Roussel MF, et al.
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| J Virol 48 : 770-773. 1983
|