Evidence map›Paper›PMID 38181636›Full record

ArticleStem cell research2024

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.

Luis Garcia, Carlos Dominguez Gonzalez, Alyssa Gagne, Jean Ann McGuire, Deborah French, Asako Takanohashi, Akshata Almad, Adeline Vanderver, Sunetra Sase

Open access · goldAbstract read
In one paragraph

Article in Stem cell research, 2024. 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
0.2field-weighted citation impact, top 39% 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

0 citing papers in PubMed, 1 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

9 authors at 2 institutions in 1 country.

Luis GarciaDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Carlos Dominguez GonzalezDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Alyssa GagnePenn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Jean Ann McGuireDepartment of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Deborah FrenchDepartment of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Asako TakanohashiDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Akshata AlmadDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Adeline VanderverDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: vandervera@chop.edu.
Sunetra SaseDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

Clinical Outcomes in Aicardi Goutières SyndromeU01NS106845 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2019 to 2023
$7.5M
Reverse transcriptase inhibition as a novel therapeutic approach for ADAR-1-related Aicardi Goutières SyndromeR21NS123477 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2022 to 2022
$500k
NINDS NIH HHS R21 NS123477NINDS NIH HHS U01 NS106845
6 · The paper itself

Abstract

Mutations in Adenosine deaminase acting on RNA 1 (ADAR1) gene encoding RNA editing enzyme ADAR1 results in the neuroinflammatory leukodystrophy Aicardi Goutières Syndrome (AGS). AGS is an early onset leukoencephalopathy with an exacerbated interferon response leading to neurological regression with intellectual disability, spasticity, and motor deficits. We have generated three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of individuals with ADAR1

Indexed as

Autoimmune Diseases of the Nervous SystemInduced Pluripotent Stem CellsNervous System MalformationsAdenosine DeaminaseHumansLeukocytes, MononuclearMutationRNA-Binding ProteinsADAR protein, humanAdenosine DeaminaseRNA-Binding Proteins

Identifiers

PMID38181636
PMCPMC10836393
OpenAlexW4390349817

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.