Evidence map›Paper›PMID 40141454›Full record

ArticleInternational journal of molecular sciences2025

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.

Stefania Kalampokini, Dimitrios G Goulis, Georgia Pepe, Stavrenia Koukoula, Antonis Frontistis, Maria Moschou, Marianthi Arnaoutoglou, Vasileios Papaliagkas, Vasilios K Kimiskidis

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In one paragraph

Article in International journal of molecular sciences, 2025. 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
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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

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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

9 authors.

Stefania KalampokiniFirst Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece.ORCID 0000-0003-4541-5384
Dimitrios G GoulisUnit of Reproductive Endocrinology, First Department of Obstetrics-Gynaecology, Aristotle University of Thessaloniki, 56429 Thessaloniki, Greece.ORCID 0000-0002-5005-1995
Georgia PepeGenekor Medical S.A., 15344 Athens, Greece.
Stavrenia KoukoulaVitreoretinal Department, Ophthalmica Eye Institute, 54622 Thessaloniki, Greece.
Antonis FrontistisFirst Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece.ORCID 0000-0003-2666-8183
Maria MoschouFirst Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece.
Marianthi ArnaoutoglouFirst Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece.
Vasileios PapaliagkasDepartment of Biomedical Sciences, School of Health Sciences, International Hellenic University, 57400 Thessaloniki, Greece.ORCID 0000-0003-1064-0290
Vasilios K KimiskidisFirst Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece.ORCID 0000-0002-3335-3019

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The DEAD/DExD/H-box RNA helicases are a group of RNA-binding proteins involved in the metabolism of mRNAs. They coordinate gene expression programs and play a role in cellular signaling, fate, and survival. We describe a case of a 36-year-old female with neuromuscular disease, sensorineural hearing loss, retinitis pigmentosa, and primary ovarian insufficiency harboring a heterozygous de novo missense pathogenic variant in the DEAH-box helicase 16 (

Indexed as

Neuromuscular DiseasesOculomotor MusclesOculomotor Nerve DiseasesRNA HelicasesAdultFemaleGenetic VariationHumansMuscle WeaknessDHX16 protein, humanRNA HelicasesDEAH-box helicaseDHX16 mutationneuromuscular diseaseoculoauditory anomalies

Identifiers

PMID40141454
PMCPMC11943138

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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.