Evidence map›Paper›PMID 23554618›Full record

ArticleJournal of biomedical research2010

Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21.

Aarti Ruparelia, Frances Wiseman, Olivia Sheppard, Victor L J Tybulewicz, Elizabeth M C Fisher

Open access · greenAbstract read
In one paragraph

Article in Journal of biomedical research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Necroptosis in Down Syndrome.Cell death & disease · 2026
    Article
  2. Review
  3. Article
  4. Article
  5. Lung disease manifestations in Down syndrome.American journal of physiology. Lung cellular and molecular physiology · 2021
    Review
  6. Article
  7. Overproduction of HProceedings of the National Academy of Sciences of the United States of America · 2019
    Article
  8. Review
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Aarti RupareliaDepartment of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
Frances Wiseman
Olivia Sheppard
Victor L J Tybulewicz
Elizabeth M C Fisher
National Hospital for Neurology and Neurosurgery · GBUniversity College London · GB

Funding

Medical Research Council G0601056Wellcome Trust
6 · The paper itself

Abstract

Chromosome copy number aberrations, anueploidies, are common in the human population but generally lethal. However, trisomy of human chromosome 21 is compatible with life and people born with this form of aneuploidy manifest the features of Down syndrome, named after Langdon Down who was a 19(th) century British physician who first described a group of people with this disorder. Down syndrome includes learning and memory deficits in all cases, as well as many other features which vary in penetrance and expressivity in different people. While Down syndrome clearly has a genetic cause - the extra dose of genes on chromosome 21 - we do not know which genes are important for which aspects of the syndrome, which biochemical pathways are disrupted, or, generally how design therapies to ameliorate the effects of these disruptions. Recently, with new insights gained from studying mouse models of Down syndrome, specific genes and pathways are being shown to be involved in the pathogenesis of the disorder. This is opening the way for exciting new studies of potential therapeutics for aspects of Down syndrome, particularly the learning and memory deficits.

Identifiers

PMID23554618
PMCPMC3596542
OpenAlexW2064873566

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.