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Similarities between Nasu-Hakola disease (caused by mutations in either DAP12 or TREM2) and adult-onset leukoencephalopathy suggest partial loss of microglia CSF1R signaling promotes neurodegeneration. Defects in neurogenesis and neuronal survival are also seen in adult-onset leukoencephalopathy due to impaired CSF1R signaling in neural ...
The cause of HDLS in most families is mutation in the colony stimulating factor 1 receptor (CSF1R), a growth factor for microglia and monocyte/macrophages, suggesting that microglial dysfunction may be primary in HDLS. [4] The mutations are concentrated in tyrosine kinase domain (TKD) of the protein.
There are several types of mutations that occur in genes. The majority of CSF1R genetic mutations in LENAS occur due to a type of mutation which is called a missense mutation. [3] Missense mutations occur when there is a change in a single amino acid of a protein. This single change can result in problems with functions of the protein, like the ...
3815 16590 Ensembl ENSG00000157404 ENSMUSG00000005672 UniProt P10721 P05532 RefSeq (mRNA) NM_000222 NM_001093772 NM_001122733 NM_021099 RefSeq (protein) NP_000213 NP_001087241 NP_001116205 NP_066922 Location (UCSC) Chr 4: 54.66 – 54.74 Mb Chr 5: 75.74 – 75.82 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Proto-oncogene c-KIT is the gene encoding the receptor tyrosine kinase ...
1435 12977 Ensembl ENSG00000184371 ENSMUSG00000014599 UniProt P09603 P07141 RefSeq (mRNA) NM_172212 NM_000757 NM_172210 NM_172211 NM_001113529 NM_001113530 NM_007778 RefSeq (protein) NP_000748 NP_757349 NP_757350 NP_757351 NP_001107001 NP_001107002 NP_031804 Location (UCSC) Chr 1: 109.91 – 109.93 Mb Chr 3: 107.65 – 107.67 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The colony ...
Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor defined histologically as inclusions of “osteoclast-like” multinucleated giant cells, hemosiderin, and macrophages. [1]
Erdheim–Chester disease (ECD) is an extremely rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis).
a cell-surface protein encoded, in humans, by the CSF1R gene. Also known as colony stimulating factor 1 receptor (CSF1R) and/or as macrophage colony-stimulating factor receptor (M-CSFR). It is a receptor, known to be expressed on monocytes and macrophages , for a cytokine called colony stimulating factor 1 (CSF1) and also interleukin 34 (IL34).
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