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DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features
Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, Haltia M, Konttinen YT et al.. The Journal of experimental medicine, 2003-08-01
Topic: Brain proteins, microglia and lab models
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), Nasu-Hakola disease, is a globally distributed recessively inherited disease. PLOSL is characterized by cystic bone lesions, osteoporotic features, and loss of white matter in the brain leading to spontaneous bone fractures and profound presenile dementia. We have earlier characterized the molecular genetic background of PLOSL by identifying mutations in two genes, DAP12 and TREM2.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Paloneva, J., Mandelin, J., Kiialainen, A., Bohling, T., Prudlo, J., Hakola, P., et al. (2003). DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. The Journal of experimental medicine. https://doi.org/10.1084/jem.20030027
Vancouver
Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, et al. DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. The Journal of experimental medicine. 2003. doi:10.1084/jem.20030027. PMID: 12925681.
BibTeX
@article{paloneva2003-12925681,
author = {Paloneva, J. and Mandelin, J. and Kiialainen, A. and Bohling, T. and Prudlo, J. and Hakola, P. and Haltia, M. and Konttinen, Y. T. and others},
title = {{DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features}},
journal = {The Journal of experimental medicine},
year = {2003},
doi = {10.1084/jem.20030027},
pmid = {12925681},
url = {https://doi.org/10.1084/jem.20030027}
}
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Key findings
- PLOSL is characterized by cystic bone lesions, osteoporotic features, and loss of white matter in the brain leading to spontaneous bone fractures and profound presenile dementia.
- We have earlier characterized the molecular genetic background of PLOSL by identifying mutations in two genes, DAP12 and TREM2.
- DAP12 is a transmembrane adaptor protein that associates with the cell surface receptor TREM2.
- The DAP12-TREM2 complex is involved in the maturation of dendritic cells.
Why it matters
This study reports that a lack of DAP12 or TREM2 "results in impaired osteoclast differentiation and osteoporotic features", which concerns the cells that break down bone. It builds on the authors' earlier finding that mutations in these two genes cause Nasu-Hakola disease (PLOSL), an inherited disease with bone cysts, fractures, white-matter loss and "profound presenile dementia". The record does not mention Alzheimer's disease, gives no methods or numbers, and reports no treatment.
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Study details
- Evidence strengthLow
How this study scored 52/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (The Journal of experimental medicine) |
| Journal's citation record | 4 / 4 | The Journal of Experimental Medicine: journal h-index 652 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2003 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 318 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.7 citations a year over 25 year(s) since 2003 |
| Impact for its field and year | 3 / 6 | Cited 4.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 46 other studies in this library |
| Still being cited | 3 / 4 | Cited 59 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Leena Peltonen: h-index 94 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Helsinki: institution h-index 1,201 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 12925681) |
| Free to read | 2 / 2 | Free to read |
| Total | 52 / 100 | — |
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