From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-021-00942-w.pdf
Reference32 articles.
1. Stanley ER, Berg KL, Einstein DB, Lee PS, Pixley FJ, Wang Y, et al. Biology and action of colony-stimulating factor-1. Mol Reprod Dev. 1997;46:4–10.
2. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011;44:200–5.
3. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, et al. Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-Pyle disease spectrum and degenerative encephalopathy with brain malformation. Am J Hum Genet. 2019;104:925–35.
4. Pixley FJ, Stanley ER. CSF-1 regulation of the wandering macrophage: complexity in action. Trends Cell Biol. 2004;14:628–38.
5. Stanley ER, Chitu V. CSF-1 receptor signaling in myeloid cells. Cold Spring Harb Perspect Biol. 2014;6:a021857.
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