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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
CSF1R
gene.
Barreda DR, Hanington PC, Belosevic M. Regulation of myeloid development and function by colony stimulating factors. Dev Comp Immunol. 2004 May 3;28(5):509-54. Review.
PubMed citation
Entrez
Gene
Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013 Feb;260(2):558-71. doi: 10.1007/s00415-012-6680-6. Epub 2012 Sep 30.
PubMed citation
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. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4.
PubMed citation
OMIM:
COLONY-STIMULATING FACTOR 1
RECEPTOR
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. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.
PubMed citation
Sherr CJ. Colony-stimulating factor-1 receptor. Blood. 1990 Jan 1;75(1):1-12. Review.
PubMed citation
Reviewed: December 2012
Published: May 20, 2013