|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified CSF1R mutations in both POLD families: in family 5901, we found c.2297T>C (p.M766T), previously reported by us in HDLS family CA1, and in family FTD368, we identified c.2345G>A (p.R782H), recently reported in a biopsy-proven HDLS case.
|
23408870 |
2013 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity.
|
29122458 |
2018 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report here a newly identified family with HDLS harboring a mutation in the CSF1R gene.
|
27423618 |
2016 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.
|
28025469 |
2017 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional prediction of the mutant CSF1R as well as cross-species conservation of the affected amino acids supports the notion that these variants are pathogenic for HDLS.
|
23038421 |
2012 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our findings suggest that expression of wild-type CSF1R in some cells, whether achieved by mosaicism or chimerism, may confer benefit in hereditary diffuse leukoencephalopathy with axonal spheroids and suggest that haematopoietic stem cell transplantation might have a therapeutic role for this disorder.
|
27190017 |
2016 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult-onset autosomal dominant leukoencephalopathy resulting from mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 protein (encoded by CSF1R).
|
30968732 |
2019 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
|
30136118 |
2018 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<i>CSF1R</i>-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (<i>CSF1R</i>) gene mutation.
|
31827782 |
2019 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report familial cases of a novel CSF1R mutation causing HDLS similar to hydrocephalus.
|
31093799 |
2019 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.
|
25563800 |
2015 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for CSF1R gene mutations in PPMS cases with a positive family history of neurological disorders may establish the diagnosis of HDLS.
|
25311247 |
2015 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.
|
28921817 |
2018 |
|
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We studied neuropathologically verified HDLS patients with CSF1R mutations to assess parkinsonian features.
|
23787135 |
2013 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Overexpression of CSF-1 and/or FMS has been implicated in a number of disease states such as the growth of metastasis of certain types of cancer, in promoting osteoclast proliferation in bone osteolysis, and many inflammatory disorders.
|
22434539 |
2013 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
This work expands what is known on the non-macrophage functions of CSF-1R and its role in solid tumors, and suggests that CSF-1R signaling may have a critical pathogenic role in a prototypical, inflammation-related cancer such as MPM and therefore may represent a promising target for therapeutic intervention.
|
24722292 |
2014 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Tyrosine kinases including LCK and FMS are involved in inflammatory disorders as well as many types of cancer.
|
29107425 |
2017 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Nearly all tested combinations involving a BCL2 inhibitor showed additional benefit in patients with myeloid malignancies, whereas select combinations involving PI3K, CSF1R, or bromodomain inhibitors showed preferential benefit in lymphoid malignancies.
|
28784769 |
2017 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Therapeutic antibodies targeting colony stimulating factor 1 receptor (CSF-1R) to block colony stimulating factor-1/colony stimulating factor 1 receptor (CSF-1/CSF-R) signaling axis have exhibit remarkable efficacy in the treatment of malignant tumor.
|
29218239 |
2017 |
|
Malignant Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical analysis revealed an intense CSF‑1/CSF‑1R expression in the cytoplasm of cancer cells in primary GC tissues.
|
29767252 |
2018 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Colony-stimulating factor 1 receptor (CSF1R) inhibitors in cancer therapy.
|
28716061 |
2017 |
|
Malignant Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Analysis of RNA-seq data of 1006 cell lines from the Cancer Cell Line Encyclopedia (CCLE) revealed that more than 12% of carcinoma cell lines expressed markedly elevated mRNA levels of colony-stimulating factor (CSF)-1 receptor (CSF-1R).
|
30075184 |
2018 |
|
Malignant Neoplasms
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Cases in point are the detection of RAS and FMS mutations in healthy individuals who had been treated in the past with cytotoxic therapy for lymphoma, the frequent observation of clonal remission in AML patients, or the identification of oncogene mutations in healthy individuals without even a history of malignancy or chemotherapy.
|
1613006 |
1992 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
One of the most potent inhibitor 10d, 1-(4-((4-ethylpiperazin-1-yl)methyl)-3-(trifluoromethyl)phenyl)-3-(4-(2-oxo-2,3-dihydro-1H-thieno [3,4-b][1,4]diazepin-4-yl)phenyl)urea was found to be very potent inhibitor of multi-protein kinases including FMS kinase (IC<sub>50</sub> = 3.73 nM) and is a promising candidate for further development in therapeutics for cancer.
|
29459144 |
2018 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Preclinical evaluation of 3D185, a novel potent inhibitor of FGFR1/2/3 and CSF-1R, in FGFR-dependent and macrophage-dominant cancer models.
|
31438996 |
2019 |