Evidence map›Paper›PMID 41449293›Full record

ArticleMolecular neurobiology2025

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Yasuyo Suzuki, Daniela Tiaki Uehara, Yasushi Enokido, Taeko Kawai, Noriko Nomura, Kenichiro Yamada, Jun-Ichi Takanashi, Hiroaki Miyahara, Johji Inazawa, Shin Hayashi

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Article in Molecular neurobiology, 2025. 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.

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

10 authors.

Yasuyo Suzuki *Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kagiya-Cho, Kasugai, Aichi, 480-0392, Japan.
Daniela Tiaki Uehara *Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Yasushi EnokidoDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
Taeko KawaiDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
Noriko NomuraDepartment of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kagiya-Cho, Kasugai, Aichi, 480-0392, Japan.
Kenichiro YamadaDepartment of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kagiya-Cho, Kasugai, Aichi, 480-0392, Japan.
Jun-Ichi TakanashiDepartment of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan.
Hiroaki MiyaharaDepartment of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Johji InazawaDepartment of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Shin HayashiDepartment of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kagiya-Cho, Kasugai, Aichi, 480-0392, Japan. shin-hayashi@inst-hsc.jp.

Funding

Japan Society for the Promotion of Science JP24K10523Japan Society for the Promotion of Science JP24K11014
6 · The paper itself

Abstract

TENM4 is a transmembrane protein belonging to the teneurin family. It is localized in neurons and oligodendrocytes, where it regulates oligodendrocyte maturation and myelination. While missense variants of TENM4 were reported to cause essential tremor and schizophrenia, we identified a novel variant of uncertain significance at the exon 10-intron 10 junction, c.1255+2T>C, which was segregated in affected patients with a pedigree of intellectual disability and epilepsy. Minigene assay confirmed that the variant caused an in-frame skipping of exon 10 (ΔE10). To clarify the etiology of the novel variant, we generated a mouse model, Tenm4

Indexed as

EpilepsyExonsGenetic PleiotropyMembrane ProteinsAlternative SplicingAnimalsBrainCell DifferentiationFemaleHumansMaleMiceMice, Inbred C57BLOligodendrogliaRNA, MessengerMembrane ProteinsRNA, MessengerAlternative splicingEpilepsyGenome editingOligodendrocytePleiotropyTENM4

Identifiers

PMID41449293

What OpenQuestion holds

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Registered trials

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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.