Evidence map›Paper›PMID 38014237›Full record

ArticleResearch square2023

Human brain single nucleus cell type enrichments in neurodegenerative diseases.

Chelsea X Alvarado, Cory A Weller, Nicholas Johnson, Hampton L Leonard, Andrew B Singleton, Xylena Reed, Cornelis Blauewendraat, Mike A Nalls

Open access · greenAbstract readPreprint
In one paragraph

Article in Research square, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 1 institution in 1 country.

Chelsea X AlvaradoNational Institute on Aging.ORCID 0000-0002-5973-7512
Cory A WellerNational Institute on Aging.
Nicholas JohnsonNational Institute on Aging.
Hampton L LeonardNational Institute on Aging.
Andrew B SingletonNational Institute on Aging.
Xylena ReedNational Institute on Aging.
Cornelis BlauewendraatNational Institute on Aging.
Mike A NallsNational Institute on Aging.ORCID 0000-0003-0319-4325
Institute on Aging · US

Funding

Harmonized Data-Derived Resources for the Alzheimer's Disease and Related Dementias CommunityZIAAG000534 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2019 to 2025
$85.1M
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000534Intramural NIH HHS ZIA NS003154
6 · The paper itself

Abstract

Background: Single-cell RNA sequencing has opened a window into clarifying the complex underpinnings of disease, particularly in quantifying the relevance of tissue- and cell-type-specific gene expression. Methods: To identify the cell types and genes important to therapeutic target development across the neurodegenerative disease spectrum, we leveraged genome-wide association studies, recent single-cell sequencing data, and bulk expression studies in a diverse series of brain region tissues. Results: We were able to identify significant immune-related cell types in the brain across three major neurodegenerative diseases: Alzheimer's disease, amyotrophic lateral sclerosis, and Parkinson's disease. Subsequently, putative roles of 30 fine-mapped loci implicating seven genes in multiple neurodegenerative diseases and their pathogenesis were identified. Conclusions: We have helped refine the genetic regions and cell types effected across multiple neurodegenerative diseases, helping focus future translational research efforts.

Indexed as

colocalizationMAGMANeurodegenerative diseasessingle nucleus cell expression

Identifiers

PMID38014237
PMCPMC10680930
OpenAlexW4388693040

What OpenQuestion holds

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LicenceCC BY
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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.