| 1 | CSF3R, SETBP1
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| Mutated SETBP1 activates transcription of Myc programs to accelerate CSF3R-driven myeloproliferative neoplasms
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| Carratt SA, Kong GL, Curtiss BM, Schonrock Z, Maloney L, Maniaci BN, Blaylock HZ, Baris A, Druker BJ, Braun TP, Maxson JE
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| Blood. Aug 11;140(6):644-658. doi: 10.1182/blood.2021014777. 2022
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| 2 | CSF3R, DSP, LAMA3
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| Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
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| Deng Y, Li Z, Liu J, Wang Z, Cao Y, Mou Y, Fu B, Mo B, Wei J, Cheng Z, Luo L, Li J, Shu Y, Wang X, Luo G, Yang S, Wang Y, Zhu J, Yang J, Wu M, Xu X, Ge R, Chen X, Peng Q, Wei G, Li Y, Yang H, Fang S, Zhang X, Xiong W.
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| Hum Mutat 39(9):1238-1245. doi: 10.1002/humu.23566. Epub 2018 Jun 29.
2018
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| 3 | CSF3R, SCNH
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| A Truncated G-CSFR Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: Implication for Understanding CSF3R Mutations in Severe Congenital Neutropenia.
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| Qiu Y, Zhang Y, Hu N, Dong F.
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| J Biol Chem Biol Chem. 2017 Jan 10. pii: jbc.M116.755157. doi: 10.1074/jbc.M116.755157. [Epub ahead of print]
2017
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| 4 | CSF3R, SCNH
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| Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies.
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| Dwivedi P, Greis KD.
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| Exp Hematol 46:9-20. doi: 10.1016/j.exphem.2016.10.008. Review.
2017
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| 5 | CSF3, CSF3R, SCNH
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| GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.
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| Klimiankou M, Klimenkova O, Uenalan M, Zeidler A, Mellor-Heineke S, Kandabarau S, Skokowa J, Zeidler C, Welte K.
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| Blood 126(15):1865-7. doi: 10.1182/blood-2015-07-661264. No abstract available.
2015
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| 6 | ASXL1, CSF3R, SETBP1
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| ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.
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| Elliott MA, Pardanani A, Hanson CA, Lasho TL, Finke CM, Belachew AA, Tefferi A.
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| Am J Hematol 90(7):653-6. doi: 10.1002/ajh.24031.
2015
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| 7 | CSF3, CSF3R
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| G-CSF supports long-term muscle regeneration in mouse models of muscular dystrophy.
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| Hayashiji N, Yuasa S, Miyagoe-Suzuki Y, Hara M, Ito N, Hashimoto H, Kusumoto D, Seki T, Tohyama S, Kodaira M, Kunitomi A, Kashimura S, Takei M, Saito Y, Okata S, Egashira T, Endo J, Sasaoka T, Takeda S, Fukuda K.
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| Nat Commun 6:6745. doi: 10.1038/ncomms7745. Erratum in: Nat Commun. 2015;6:7295.
2015
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| 8 | CSF3R, SCNH
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| Inherited biallelic CSF3R mutations in severe congenital neutropenia.
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| Triot A, Järvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Díaz JL, Racek T, Puchałka J, Gertz EM, Schäffer AA, Kotlarz D, Pfeifer D, Díaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sánchez de Toledo Codina J, Yagüe J, Touw IP, Unal E, Klein C.
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| Blood 123(24):3811-7. doi: 10.1182/blood-2013-11-535419.
2014
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| 9 | CSF3R, FBXW7, GSK3B
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| E3 ubiquitin ligase Fbw7 negatively regulates granulocytic differentiation by targeting G-CSFR for degradation.
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| Lochab S, Pal P, Kapoor I, Kanaujiya JK, Sanyal S, Behre G, Trivedi AK.
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| Biochim Biophys Acta 1833(12):2639-52. doi: 10.1016/j.bbamcr.2013.06.018.
2013
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| 10 | CSF3R
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| Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.
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| Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agarwal A, Eide CA, Bottomly D, Wilmot B, McWeeney SK, Tognon CE, Pond JB, Collins RH, Goueli B, Oh ST, Deininger MW, Chang BH, Loriaux MM, Druker BJ, Tyner JW.
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| N Engl J Med 368(19):1781-90. doi: 10.1056/NEJMoa1214514.
2013
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| 11 | CSF3R
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| The granulocyte-colony stimulating factor receptor (G-CSFR) interacts with retinoic acid receptors (RARs) in the regulation of myeloid differentiation.
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| Chee LC, Hendy J, Purton LE, McArthur GA.
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| J Leukoc Biol 93(2):235-43. doi: 10.1189/jlb.1211609.
2013
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| 12 | CSF3R, SCNH
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| An acquired CSF3R mutation in an adult chronic idiopathic neutropenia patient who developed acute myeloid leukaemia.
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| Ikewaki J, Kawano R, Sato T, Imamura T, Kohno K, Ogata M, Ohtsuka E, Kadota J.
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| Br J Haematol 157(2):264-6. doi: 10.1111/j.1365-2141.2011.08968.x. No abstract available.
2012
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| 13 | CSF3R, USP17L6P
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| The deubiquitinating enzyme DUB2A enhances CSF3 signalling by attenuating lysosomal routing of the CSF3 receptor.
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| Meenhuis A, Verwijmeren C, Roovers O, Touw IP.
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| Biochem J 434(2):343-51.
2011
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| 14 | CSF3R, PRDX4, PTPN1
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| Peroxiredoxin-controlled G-CSF signalling at the endoplasmic reticulum-early endosome interface.
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| Palande K, Roovers O, Gits J, Verwijmeren C, Iuchi Y, Fujii J, Neel BG, Karisch R, Tavernier J, Touw IP.
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| J Cell Sci 124(Pt 21):3695-705. doi: 10.1242/jcs.089656. 2011
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| 15 | CSF3, CSF3R
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| G-CSF and its receptor in myeloid malignancy.
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| Beekman R, Touw IP.
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| Blood 115(25):5131-6. doi: 10.1182/blood-2010-01-234120. Review.
2010
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| 16 | CSF3R, SCNH
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| An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia.
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| Plo I, Zhang Y, Le Couédic JP, Nakatake M, Boulet JM, Itaya M, Smith SO, Debili N, Constantinescu SN, Vainchenker W, Louache F, de Botton S.
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| J Exp Med 206(8):1701-7. Epub 2009 Jul 20.PMID: 19620628 2009
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| 17 | CSF3R, SOCS3
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| Site-specific ubiquitination determines lysosomal sorting and signal attenuation of the granulocyte colony-stimulating factor receptor.
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| Wölfler A, Irandoust M, Meenhuis A, Gits J, Roovers O, Touw IP.
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| Traffic 10(8):1168-79. Epub 2009 May 12.PMID: 19453968 2009
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| 18 | CSF3R
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| Zebrafish granulocyte colony-stimulating factor receptor signaling promotes myelopoiesis and myeloid cell migration.
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| Liongue C, Hall CJ, O'Connell BA, Crosier P, Ward AC.
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| Blood 113(11):2535-46. Epub 2009 Jan 12.PMID: 19139076 2009
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| 19 | CSF3R, SCNH
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| Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia.
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| Ward AC, Gits J, Majeed F, Aprikyan AA, Lewis RS, O'Sullivan LA, Freedman M, Shigdar S, Touw IP, Dale DC, Dror Y.
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| Br J Haematol 142(4):653-6.PMID: 18513286 2008
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| 20 | CSF3R, SCNH
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| G-CSFR ubiquitination critically regulates myeloid cell survival and proliferation.
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| Ai J, Druhan LJ, Loveland MJ, Avalos BR.
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| PLoS One 3(10):e3422. Epub 2008 Oct 16.PMID: 18923646 2008
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| 21 | CSF3R, SCNH
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| G-CSF receptor mutations in patients with congenital neutropenia.
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| Germeshausen M, Skokowa J, Ballmaier M, Zeidler C, Welte K.
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| Curr Opin Hematol 15(4):332-7. Review.PMID: 18536571 2008
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| 22 | CSF3R, SCNH
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| Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.
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| Germeshausen M, Ballmaier M, Welte K.
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| Blood 109(1):93-9. Epub 2006 Sep 19. 2007
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| 23 | CSF3R
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| Unique structural determinants for Stat3 recruitment and activation by the granulocyte colony-stimulating factor receptor at phosphotyrosine ligands 704 and 744.
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| Shao H, Xu X, Jing N, Tweardy DJ.
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| J Immunol 176(5):2933-41. 2006
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| 24 | CSF3R
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| A functional single-nucleotide polymorphism of the G-CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome.
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| Wolfler A, Erkeland SJ, Bodner C, Valkhof M, Renner W, Leitner C, Olipitz W, Pfeilstocker M, Tinchon C, Emberger W, Linkesch W, Touw IP, Sill H.
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| Blood 105(9):3731-6. Epub 2005 Jan 11. 2005
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| 25 | CSF3R, PBX1, TCF3
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| The gene encoding the granulocyte colony-stimulating factor receptor is a target for deregulation in pre-B ALL by the t(1;19)-specific oncoprotein E2A-Pbx1.
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| de Lau WB, Hurenkamp J, Berendes P, Touw IP, Clevers HC, van Dijk MA.
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| Oncogene 17 : 503-510. 1998
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| 26 | CSF3R, SCNH
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| Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.
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| Tidow N, Pilz C, Teichmann B, Muller-Brechlin A, Germeshausen M, Kasper B, Rauprich P, Sykora KW, Welte K.
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| Blood 89 : 2369-2375. 1997
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| 27 | CSF3R
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| A point mutation in the granulocyte colony-stimulating factor receptor (G-CSF-R) gene in a case of acute myeloid leukemia results in the overexpression of a novel G-CSF-R isoform.
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| Dong F, van Paassen M, van Buitenen C, Hoefsloot LH, Lowenberg B, Touw IP.
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| Blood 85 : 902-911. 1995
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| 28 | CSF3R, SCNH
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| Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia.
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| Dong F, Brynes RK, Tidow N, Welte K, Lowenberg B, Touw IP.
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| N Engl J Med 333 : 487-493. 1995
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| 29 | CSF3, CSF3R, SCNH
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| Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.
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| Dong F, Hoefsloot LH, Schelen AM, Broeders CA, Meijer Y, Veerman AJ, Touw IP, Lowenberg B.
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| Proc Natl Acad Sci U S A 91 : 4480-4484. 1994
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| 30 | CSF3R
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| Molecular cloning of cDNAs for the human granulocyte colony-stimulating factor receptor from HL-60 and mapping of the gene to chromosome region 1p32-34.
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| Tweardy DJ, Anderson K, Cannizzaro LA, Steinman RA, Croce CM, Huebner K.
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| Blood 79 : 1148-1154. 1992
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| 31 | CSF3R
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| Assignment of the human granulocyte colony-stimulating factor receptor gene (CSF3R) to chromosome 1 at region p35-p34.3.
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| Inazawa J, Fukunaga R, Seto Y, Nakagawa H, Misawa S, Abe T, Nagata S.
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| Genomics 10 : 1075-1078. 1991
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| 32 | CSF3R
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| Three different mRNAs encoding human granulocyte colony-stimulating factor receptor.
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| Fukunaga R, Seto Y, Mizushima S, Nagata S.
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| Proc Natl Acad Sci U S A 87 : 8702-8706. 1990
|