2024年12月24日 · CSF1R (Colony Stimulating Factor 1 Receptor) is a Protein Coding gene. Diseases associated with CSF1R include Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 and Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis. Among its related pathways are GPCR Pathway and ERK Signaling.

2012年8月30日 · The diagnosis of CSF1R-related disorder is established in a proband with suggestive findings and a heterozygous CSF1R pathogenic variant or biallelic CSF1R pathogenic variants identified by molecular genetic testing.

2023年1月5日 · Colony-Stimulating Factor-1 Receptor (CSF1R) is a receptor tyrosine kinase that controls the differentiation and maintenance of most tissue-resident macrophages and bone-resorbing osteoclasts. Mutations of CSF1R have been implicated in neurodegeneration, skeletal anomalies, and cancers.

The CSF1R gene provides instructions for making a protein called the colony stimulating factor 1 receptor (CSF-1 receptor). Learn about this gene and related health conditions.

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology. A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy.

2025年2月8日 · Clinical resource with information about CSF1R, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary, with spheroids 1, and available tests.

Colony-stimulating factor 1 receptor (CSF1R) is a cell-surface tyrosine kinase receptor expressed by macrophages and other cells of the myeloid lineage. 1 The CSF1R tyrosine kinase is activated when bound by its ligands, CSF1 and IL-34. 2

2023年1月5日 · ABSTRACT: Colony-Stimulating Factor-1 Receptor (CSF1R) is a receptor tyrosine kinase that controls the differentiation and maintenance of most tissue-resident macrophages and bone-resorbing osteoclasts. Mutations of CSF1R have been implicated in neurodegeneration, skeletal anomalies, and cancers.

CSF1R Mutations Are the Major Cause of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. CSF1R signaling is important for the homeostatic, survival, proliferation and differentiation of the macrophage lineage cells, including microglia.

2021年11月15日 · The colony-stimulating factor 1 receptor (CSF1R) is a key tyrosine kinase transmembrane receptor modulating microglial homeostasis, neurogenesis, and neuronal survival in the central nervous system (CNS).