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Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models
Martiskainen H, Viswanathan J, Nykänen NP, Kurki M, Helisalmi S, Natunen T, Sarajärvi T, Kurkinen KM et al.. Neurobiology of aging, 2014-09-06
Topic: Amyloid, tau and blood-test diagnosis
In this study, we have assessed the expression and splicing status of genes involved in the pathogenesis or affecting the risk of Alzheimer's disease (AD) in the postmortem inferior temporal cortex samples obtained from 60 subjects with varying degree of AD-related neurofibrillary pathology. These subjects were grouped based on neurofibrillary pathology into 3 groups: Braak stages 0-II, Braak stages III-IV, and Braak stages V-VI. We also examined the right frontal cortical biopsies obtained during life from 22 patients with idiopathic shunt-responding normal pressure hydrocephalus, a disease that displays similar pathologic alterations as seen in AD.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Martiskainen, H., Viswanathan, J., Nykänen, N. P., Kurki, M., Helisalmi, S., Natunen, T., et al. (2015). Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2014.09.003
Vancouver
Martiskainen H, Viswanathan J, Nykänen NP, Kurki M, Helisalmi S, Natunen T, et al. Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models. Neurobiology of aging. 2015. doi:10.1016/j.neurobiolaging.2014.09.003. PMID: 25281018.
BibTeX
@article{martiskainen2015-25281018,
author = {Martiskainen, H. and Viswanathan, J. and Nykänen, N. P. and Kurki, M. and Helisalmi, S. and Natunen, T. and Sarajärvi, T. and Kurkinen, K. M. and others},
title = {{Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models}},
journal = {Neurobiology of aging},
year = {2015},
doi = {10.1016/j.neurobiolaging.2014.09.003},
pmid = {25281018},
url = {https://doi.org/10.1016/j.neurobiolaging.2014.09.003}
}
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Key findings
- These subjects were grouped based on neurofibrillary pathology into 3 groups: Braak stages 0-II, Braak stages III-IV, and Braak stages V-VI.
- We also examined the right frontal cortical biopsies obtained during life from 22 patients with idiopathic shunt-responding normal pressure hydrocephalus, a disease that displays similar pathologic alterations as seen in AD.
- These 22 patients were categorized according to dichotomized amyloid-β positive or negative pathology in the biopsies.
- We observed that the expression of FRMD4A significantly decreased, and the expression of MS4A6A significantly increased in relation to increasing AD-related neurofibrillary pathology.
Why it matters
This study examined expression and splicing of Alzheimer's risk genes in postmortem brain tissue and in biopsies from patients with normal pressure hydrocephalus. It is a gene expression study and does not report a treatment or cure.
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Study details
- Participants60
- Evidence strengthLow
How this study scored 43/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | 3 / 4 | Neurobiology of Aging: journal h-index 263 (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 | 2015 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 60 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Laboratory or animal study (title names “in vitro”) — scores zero |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 70 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.4 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 2 / 6 | Cited 2.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 5 other studies in this library |
| Still being cited | 2 / 4 | Cited 23 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Mikko O. Hiltunen: h-index 59 (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 6 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25281018) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 43 / 100 | — |
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