Evidence map›Paper›PMID 39483874›Full record

ArticleResearch square2024

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A Genetti, Abdulrahman A Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco, Almundher Al-Maawali, Nadia Al Hashmi and 7 more

Abstract readPreprint
In one paragraph

Article in Research square, 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
–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

5 · Who and what money

Authors and funding

17 authors.

Michio InoueWashington University School of Medicine.
Divya JayaramanThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School.
Rocio BengoecheaWashington University School of Medicine.
Ankan BhadraWashington University School of Medicine.
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School.
Abdulrahman A AldeeriThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School.
Betül TuranNecmettin Erbakan University.
Rafael Adrian Pacheco-OrozcoOrganización Clinica General del Norte.
Almundher Al-MaawaliSultan Qaboos University Hospital, College of Medicine and Health Sciences, Sultan Qaboos University.
Nadia Al HashmiNational Genetic Center, Royal Hospital, Ministry of Health.
Ayşe Gül ZamaniNecmettin Erbakan University.
Emine GöktaşNecmettin Erbakan University.
Sevgi PekcanNecmettin Erbakan University.
Hanife Tuğçe ÇağlarNecmettin Erbakan University.
Heather TrueWashington University School of Medicine.
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School.
Conrad C WeihlWashington University School of Medicine.

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Chaperone Dysfunction in Myopathy: Connecting Yeast Genetics with Mouse ModelsR01AR068797 · NIAMS · WASHINGTON UNIVERSITY · PI TRUE-KROB, HEATHER L, WEIHL, CONRAD C · 2015 to 2025
$6.1M
CH/BIDMC/Harvard Medical School Neurology Resident Research Education Program Competing RenewalR25NS070682 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI PODURI, ANNAPURNA, SAPER, CLIFFORD B · 2010 to 2023
$4.5M
Clinical and Translational Studies in Muscle DiseaseK24AR073317 · NIAMS · WASHINGTON UNIVERSITY · PI CONRAD C WEIHL · 2018 to 2026
$1.6M
Elucidating the Role of DNAJ Proteins in Muscle DiseaseK99AR084062 · NIAMS · WASHINGTON UNIVERSITY · PI INOUE, MICHIO · 2024 to 2025
$196k
NIAMS NIH HHS K24 AR073317NIAMS NIH HHS K99 AR084062NIAMS NIH HHS R01 AR068797NICHD NIH HHS P50 HD105351NINDS NIH HHS R25 NS070682
6 · The paper itself

Abstract

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in

Indexed as

ChaperonopathyDNAJB4Heat shock proteinsProtein aggregate myopathyRespiratory failureRigid spine syndrome

Identifiers

PMID39483874
PMCPMC11527209

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.