Evidence map›Paper›PMID 35403689›Full record

ArticleDisease models & mechanisms2022

Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models.

Xiaonan Zhao, Cassandra McHugh, Sydney R Coffey, Diego Antonio Jimenez, Elizabeth Adams, Jeffrey B Carroll, Karen Usdin

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Disease models & mechanisms, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 41% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
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

7 authors at 2 institutions in 1 country.

Xiaonan ZhaoSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-7281-3914
Cassandra McHughBehavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA.
Sydney R CoffeyBehavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA.ORCID 0000-0002-1477-2197
Diego Antonio JimenezSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Elizabeth AdamsBehavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA.ORCID 0000-0001-9124-1392
Jeffrey B CarrollBehavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA.ORCID 0000-0003-1711-8868
Karen UsdinSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3295-0740
Western Washington University · USNational Institutes of Health · US

Funding

Understanding the mutational mechanism responsible for the Repeat Expansion DiseasesZIADK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2009 to 2025
$14.1M
Mechanism of repeat expansion in Fragile X syndromeZ01DK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2007 to 2008
$570k
Intramural NIH HHS Z01 DK057808
6 · The paper itself

Abstract

Repeat expansion diseases are a large group of human genetic disorders caused by expansion of a specific short tandem repeat tract. Expansion in somatic cells affects age of onset and disease severity in some of these disorders. However, alleles in DNA derived from blood, a commonly used source of DNA, usually show much less expansion than disease-relevant cells in the central nervous system in both humans and mouse models. Here we examined the extent of expansion in different DNA sources from mouse models of the fragile X-related disorders, Huntington's disease, spinocerebellar ataxia type 1 and spinocerebellar ataxia type 2. We found that DNA isolated from stool is a much better indicator of somatic expansion than DNA from blood. As stool is a sensitive and noninvasive source of DNA, it can be useful for studies of factors affecting the risk of expansion, or the monitoring of treatments aimed at reducing expansion in preclinical trials, as it would allow expansions to be examined longitudinally in the same animal and allow significant changes in expansion to be observed much earlier than is possible with other DNA sources.

Indexed as

Huntington DiseaseSpinocerebellar AtaxiasAnimalsCentral Nervous SystemDisease Models, AnimalDNAMiceTrinucleotide Repeat ExpansionDNAFragile X-related disorderHuntington's diseasePeripheral DNASomatic instabilitySpinocerebellar ataxia types 1 and 2Stool

Identifiers

PMID35403689
PMCPMC9118036
OpenAlexW4223488967

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.