Evidence map›Paper›PMID 40358187›Full record

ArticleCells2025

Expanded Phenotype of the

Victoria Chaoul, Sara Saab, Omar Shmoury, Ramy Alam, Lynn Al Aridi, Nadine J Makhoul, Jihane Soueid, Rose-Mary Boustany

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Victoria ChaoulDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.ORCID 0009-0007-7583-8579
Sara SaabDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.
Omar ShmouryDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.ORCID 0009-0009-1945-5383
Ramy AlamDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.ORCID 0009-0003-0628-3291
Lynn Al AridiDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.ORCID 0009-0000-6053-8425
Nadine J MakhoulDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.ORCID 0009-0006-6870-2262
Jihane SoueidDepartment of Anatomy, Cell Biology and Physiological Sciences, American Unibersity of Beirut, Beirut 1107 2020, Lebanon.ORCID 0000-0002-1973-8705
Rose-Mary BoustanyDepartment of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.ORCID 0000-0002-2066-0079

Funding

Small Molecule Drug Discovery for CLN3 and CLN6 DiseaseR01HD106590 · NICHD · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI TRIPPIER, PAUL · 2021 to 2025
$2.6M
NICHD NIH HHS R01 HD106590NICHD NIH HHS RO1HD106590
6 · The paper itself

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurogenetic disorders caused by mutations in 14 different genes. CLN6 disease manifests as variant late-infantile NCL (vLINCL) or as an adult variant. In childhood, symptoms include speech delay, vision loss, cognitive and motor decline, seizures, and early death. An in-depth characterization of a naturally occurring Cln6 mutant mouse (

Indexed as

Membrane ProteinsNeuronal Ceroid-LipofuscinosesAnimalsApoptosisBrainDisease Models, AnimalFemaleGlial Fibrillary Acidic ProteinMaleMicePhenotypeRetinaCln6 protein, mouseGlial Fibrillary Acidic ProteinMembrane ProteinsapoptosisastrogliosisCLN6 diseaseCln6nclf micemotor deficitsneurodegenerationretinal degenerationvision loss

Identifiers

PMID40358187
PMCPMC12071971

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.