Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6
Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.
Lin S et al.
Nucleic Acids Research, 2025
40308214 (PubMed )
Supplement: gkaf366_supplemental_file.zip › Supplementary_Table_S1.xlsx › Table_S1
A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the human CSF1R gene.
Malhotra P et al.
Molecular Biology Research Communications, 2025
40949796 (PubMed )
Supplement: mbrc-14-291-s001.pdf
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
36133075 (PubMed )
Supplement: Table_1.XLSX › AD_075_N
Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.
Tsai PC et al.
Annals of Clinical and Translational Neurology, 2021
Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.
Hu B et al.
Frontiers in Aging Neuroscience, 2021
34867307 (PubMed )
Supplement: Table_1.pdf
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.
Lanza G et al.
Neural Plasticity, 2020
Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.
Konno T et al.
European Journal of Neurology, 2018
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
Traboulsee AL et al.
Human Genetics, 2017
Mutational analysis of disease relapse in patients allografted for acute myeloid leukemia.
Quek L et al.
Blood Advances, 2016
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R et al.
Nature Genetics, 2011
22197934 (PubMed )
Supplement: NIHMS336734-supplement-1.pdf
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