Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
CSF1R-related disorder: A clinical, imaging and genetic profile review.
Mahale RR et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Berdowski WM et al.
Acta Neuropathologica, 2022
Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.
Sohn SH et al.
Cancers, 2022
Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.
Yin F et al.
International Journal of Clinical and Experimental Pathology, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.
Chu YD et al.
Biomedicines, 2021
CD40 Pathway and IL-2 Expression Mediate the Differential Outcome of Colorectal Cancer Patients with Different CSF1R c.1085 Genotypes.
Yeh YM et al.
International Journal of Molecular Sciences, 2021
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.
Hu B et al.
Frontiers in Aging Neuroscience, 2021
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
Phenotypic impacts of CSF1R deficiencies in humans and model organisms.
Hume DA et al.
Journal of Leukocyte Biology, 2020
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
Sundal C et al.
Acta Neuropathologica Communications, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
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.
Miura T et al.
Journal of Neurology, 2018
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C et al.
Neurobiology of Aging, 2018
Analysis of the mutational landscape of classic Hodgkin lymphoma identifies disease heterogeneity and potential therapeutic targets.
Mata E et al.
Oncotarget, 2017
The c.1085A>G Genetic Variant of CSF1R Gene Regulates Tumor Immunity by Altering the Proliferation, Polarization, and Function of Macrophages.
Yeh YM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014