Evidence map›Paper›PMID 38328093›Full record

ArticlebioRxiv : the preprint server for biology2024

Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy.

Kun Leng, Cathryn R Cadwell, W Patrick Devine, Tarik Tihan, Zhongxia Qi, Nilika Singhal, Orit Glenn, Sherry Kamiya, Arun Wiita, Amy Berger and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 1 institution in 1 country.

Kun LengMedical Scientist Training Program, University of California, San Francisco.ORCID 0000-0001-9931-1375
Cathryn R CadwellDepartment of Pathology, University of California, San Francisco.ORCID 0000-0003-1963-8285
W Patrick DevineDepartment of Pathology, University of California, San Francisco.
Tarik TihanDepartment of Pathology, University of California, San Francisco.
Zhongxia QiDepartment of Laboratory Medicine, University of California, San Francisco.ORCID 0000-0001-7190-6457
Nilika SinghalDivision of Epilepsy, Department of Neurology, University of California, San Francisco.ORCID 0000-0002-9323-3000
Orit GlennDepartment of Radiology and Biomedical Imaging, University of California, San Francisco.
Sherry KamiyaDepartment of Pathology, University of California, San Francisco.
Arun WiitaDepartment of Laboratory Medicine, University of California, San Francisco.ORCID 0000-0002-7465-6964
Amy BergerDepartment of Medicine, University of California, San Francisco.
Joseph T ShiehMedical Genetics, Department of Pediatrics, University of California, San Francisco.
Erron W TitusMedical Scientist Training Program, University of California, San Francisco.ORCID 0000-0001-6868-9121
Mercedes F ParedesWeill Institute for Neuroscience, University of California, San Francisco.
Vaibhav UpadhyayDepartment of Medicine, University of California, San Francisco.ORCID 0000-0002-7652-1043
University of California, San Francisco · US

Funding

BRAIN CONNECTS: Synaptic Resolution Whole-Brain Circuit Mapping of Molecularly Defined Cell Types Using a Barcoded Rabies VirusU01NS132353 · NINDS · STANFORD UNIVERSITY · PI TOLIAS, ANDREAS, ZADOR, ANTHONY M · 2023 to 2025
$6.1M
The role of retinoic acid signaling in patterning the human cerebral cortexK08NS126573 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Cathryn Rene Cadwell · 2022 to 2026
$1.2M
Impact of gut bacterial metabolites on lung function and diseaseK08HL165106 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Vaibhav Upadhyay · 2023 to 2026
$676k
Genetic and transcriptomic profiling of the epileptic network in patients with surgically treated seizuresR21NS123461 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI NUMIS, ADAM LAWRENCE, PAREDES, MERCEDES · 2022 to 2023
$444k
Elucidating cellular pathways controlling the reactive state of astrocytes in Alzheimer’s DiseaseF30AG066418 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LENG, KUN · 2019 to 2023
$155k
NHLBI NIH HHS K08 HL165106NIA NIH HHS F30 AG066418NINDS NIH HHS K08 NS126573NINDS NIH HHS R21 NS123461NINDS NIH HHS U01 NS132353
6 · The paper itself

Abstract

Introduction: Mosaic gain of chromosome 1q (chr1q) has been associated with malformation of cortical development (MCD) and epilepsy. Hyaline protoplasmic astrocytopathy (HPA) is a rare neuropathological finding seen in cases of epilepsy with MCD. The cell-type specificity of mosaic chr1q gain in the brain and the molecular signatures of HPA are unknown. Methods: We present a child with pharmacoresistant epilepsy who underwent epileptic focus resections at age 3 and 5 years and was found to have mosaic chr1q gain and HPA. We performed single-nuclei RNA-sequencing (snRNA-seq) of brain tissue from the second resection. Results: snRNA-seq showed increased expression of chr1q genes specifically in subsets of neurons and astrocytes. Differentially expressed genes associated with inferred chr1q gain included Discussion: snRNA-seq may be used to infer the cell type-specificity of mosaic chromosomal copy number changes and identify associated gene expression alterations, which in the case of chr1q gain may involve aberrations in cell migration. Future studies using spatial profiling could yield further insights on the molecular signatures of HPA.

Identifiers

PMID38328093
PMCPMC10849466
OpenAlexW4387696341

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.