Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.

Stem cell reports - 10 Apr 2018

Brownjohn Philip W, Smith James, Solanki Ravi, Lohmann Ebba, Houlden Henry, Hardy John, Dietmann Sabine, Livesey Frederick J

Abstract excerpt

The derivation of microglia from human stem cells provides systems for understanding microglial biology and enables functional studies of disease-causing mutations. We describe a robust method for the derivation of human microglia from stem cells, which are phenotypically and functionally comparable with primary microglia. We used stem cell-derived microglia to study the consequences of missense mutations in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Lipopolysaccharides
Share to Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Microglia

Share to Mutant Proteins

Share to Phagocytosis

Share to Pluripotent Stem Cells

Share to Receptors, Immunologic

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 29606617
DOI: 10.1016/j.stemcr.2018.03.003
PMCID: PMC5998752

Genes

TREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.PMID 29606617Read ↗

Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in PhagocytosisSemantic proximity Read ↗

Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer's disease.Semantic proximity Read ↗

iPSC-derived microglia carrying the TREM2 R47H/+ mutation are proinflammatory and promote synapse loss.Semantic proximity Read ↗

Distinct effects of disease-associated TREM2 R47H/+ and T66M mutations on iPSC-derived microgliaSemantic proximity Read ↗

Alzheimer's Risk Gene TREM2 Determines Functional Properties of New Type of Human iPSC-Derived Microglia.Semantic proximity Read ↗

TREM2 Alzheimer's variant R47H causes similar transcriptional dysregulation to knockout, yet only subtle functional phenotypes in human iPSC-derived macrophages.Semantic proximity Read ↗

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.Semantic proximity Read ↗

Defects in lysosomal function and lipid metabolism in human microglia harboring a <i>TREM2</i> loss of function mutationSemantic proximity Read ↗

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.Semantic proximity Read ↗

TREM2 knockout, but not the R47H Alzheimer’s variant, reduces neural phagocytosis and survival of human iPSC-derived macrophagesSemantic proximity Read ↗

Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice.Semantic proximity Read ↗

The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.