Evidence map›Paper›PMID 40225156›Full record

ArticleHuman mutation2023

A Novel Constitutively Active

Yumi Tsuneura, Taeko Kawai, Keitaro Yamada, Shintaro Aoki, Mitsuko Nakashima, Shima Eda, Tohru Matsuki, Masashi Nishikawa, Koh-Ichi Nagata, Yasushi Enokido and 2 more

Abstract readCase Reports
In one paragraph

Article in Human mutation, 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.

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

12 authors.

Yumi TsuneuraDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.ORCID 0000-0002-2373-2752
Taeko KawaiDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.
Keitaro YamadaDepartment of Pediatric Neurology, Central Hospital, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.
Shintaro AokiDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
Mitsuko NakashimaDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
Shima EdaDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.
Tohru MatsukiDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.ORCID 0000-0003-1832-2406
Masashi NishikawaDepartment of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.
Koh-Ichi NagataDepartment of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.ORCID 0000-0002-6827-8434
Yasushi EnokidoDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.ORCID 0000-0003-3252-504X
Hirotomo SaitsuDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.ORCID 0000-0003-0723-0960
Atsuo NakayamaDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 486-0392, Japan.ORCID 0000-0003-1444-0800

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole exome sequencing/whole genome sequencing has accelerated the identification of novel genes associated with intellectual disabilities (ID), and

Indexed as

Intellectual DisabilityNeuritesOligodendrogliarab GTP-Binding ProteinsChildExome SequencingHumansMaleMutation, Missenserab11 GTP-Binding Proteinsrab11 GTP-Binding Proteinsrab GTP-Binding Proteins

Identifiers

PMID40225156
PMCPMC11918571

What Socratic 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 Socratic graph.