Home › Research › Down syndrome and Alzheimer's
Genetic analysis of Down syndrome facilitated by mouse chromosome engineering
Zhang L, Fu D, Belichenko PV, Liu C, Kleschevnikov AM, Pao A, Liang P, Clapcote SJ et al.. Bioengineered bugs, 2012-01-01
Topic: Brain proteins, microglia and lab models
Plain-language summary
Human trisomy 21 is the most frequent live-born human aneuploidy and causes a constellation of disease phenotypes classified as Down syndrome, which include heart defects, myeloproliferative disorder, cognitive disabilities and Alzheimer-type neurodegeneration. Because these phenotypes are associated with an extra copy of a human chromosome, the genetic analysis of Down syndrome has been a major challenge. To complement human genetic approaches, mouse models have been generated and analyzed based on evolutionary conservation between the human and mouse genomes. These efforts have been greatly facilitated by Cre/loxP-mediated mouse chromosome engineering, which may result in the establishment of minimal critical genomic regions and eventually new dosage-sensitive genes associated with Down syndrome phenotypes. The success in genetic analysis of Down syndrome will further enhance our understanding of this disorder and lead to better strategies in developing effective therapeutic interventions.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Zhang, L., Fu, D., Belichenko, P. V., Liu, C., Kleschevnikov, A. M., Pao, A., et al. (2012). Genetic analysis of Down syndrome facilitated by mouse chromosome engineering. Bioengineered bugs. https://doi.org/10.4161/bbug.3.1.17696
Vancouver
Zhang L, Fu D, Belichenko PV, Liu C, Kleschevnikov AM, Pao A, et al. Genetic analysis of Down syndrome facilitated by mouse chromosome engineering. Bioengineered bugs. 2012. doi:10.4161/bbug.3.1.17696. PMID: 22126738.
BibTeX
@article{zhang2012-22126738,
author = {Zhang, L. and Fu, D. and Belichenko, P. V. and Liu, C. and Kleschevnikov, A. M. and Pao, A. and Liang, P. and Clapcote, S. J. and others},
title = {{Genetic analysis of Down syndrome facilitated by mouse chromosome engineering}},
journal = {Bioengineered bugs},
year = {2012},
doi = {10.4161/bbug.3.1.17696},
pmid = {22126738},
url = {https://doi.org/10.4161/bbug.3.1.17696}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Because these phenotypes are associated with an extra copy of a human chromosome, the genetic analysis of Down syndrome has been a major challenge.
- These efforts have been greatly facilitated by Cre/loxP-mediated mouse chromosome engineering, which may result in the establishment of minimal critical genomic regions and eventually new dosage-sensitive genes associated with Down syndrome phenotypes.
Why it matters
This paper describes how mouse chromosome engineering can help identify genes involved in Down syndrome features, including Alzheimer-type neurodegeneration. It is a research approach and reports no treatment, cure or prevention for Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 33/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Bioengineered bugs) |
| Journal's citation record | 1 / 4 | Bioengineered: journal h-index 87 (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 | 2012 — within 20 year(s) of the newest study here |
| 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 | Laboratory or animal study (title names “mouse”) — scores zero |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 2 / 7 | Cited 11 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.7 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 2 / 6 | Cited 2.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Yichao Yu: h-index 26 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of California San Diego: institution h-index 1,852 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22126738) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 33 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Related
Studies in the library that share something with this one. The line above each title says what.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
2 studies in the alzhub library list this one in their references.
Related studies in Down syndrome and Alzheimer's from nearby years
Also tagged “down”
527 studies in the library carry the topic tag “down”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 527 tagged studies.