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(Cluster of Differentiation 114) is a protein that in humans is encoded by the CSF3R gene. G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating...
Click to read more »Chronic neutrophilic leukemia (CNL) is characterized by a mutation in the CSF3R gene and an exclusion of other causes of neutrophilia. Essential thrombocythemia...
Click to read more »SRSF2 P95H promotes Class IV splicing by binding to key ESE sequences in CSF3R exon 17, and that SRSF2, when mutated, contributes to dysgranulopoiesis...
Click to read more »CNTN5; CNTN6; COL12A1; COL14A1; COL20A1; COL7A1; CRLF1; CRLF3; CSF2RB; CSF3R; DCC; DSCAM; DSCAML1; EBI3; EGFLAM; EPHA1; EPHA10; EPHA2; EPHA3; EPHA4;...
Click to read more »abnormality for CNL has been described. See OHSU 2013 findings of gene CSF3R, mutation p. T6181. This is a rare disease, with less than 100 cases reported...
Click to read more »Vainchenker W, Louache F, de Botton S., « An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia », J Exp Med., 2009 aug 3;206(8)...
Click to read more »Granulocyte colony-stimulating factor receptor (GCSFR), encoded by the CSF3R gene; essential for granulocytic maturation CD115 a cell-surface protein...
Click to read more »lead to aberrant p53 activation; Severe Congenital Neutropenia, in which CSF3R mutation may lead to myeloid hyperproliferation; telomeropathies such as...
Click to read more »HGNC:2435; P15509 3630 CSF2RB HGNC:2436; P32927 3631 CSF3 HGNC:2438; P09919 3632 CSF3R HGNC:2439; Q99062 3633 CSGALNACT1 HGNC:24290; Q8TDX6 3634 CSGALNACT2 HGNC:24292;...
Click to read more »immunodeficiency syndrome; 608203; RAC2 Neutrophilia, hereditary; 162830; CSF3R Nevo syndrome; 601451; PLOD Nevus, epidermal; 162900; PIK3CA Nevus, epidermal...
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