Evidence map›Paper›PMID 36581449›Full record

ArticleJournal of medical genetics2023

Consolidating the association of biallelic

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg and 4 more

Open access · hybridAbstract read
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In one paragraph

Article in Journal of medical genetics, 2023. 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
0.1field-weighted citation impact, top 55% of its field
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 citations in OpenAlex.

  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

14 authors at 7 institutions in 4 countries.

Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK r.maroofian@ucl.ac.uk.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-4900-9877
Mohnish SuriClinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Fatima RahmanDepartment of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Shazia MaqboolDepartment of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.
Najwa AnwaDepartment of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.
Victor L Ruiz-PérezInstituto de Investigaciones Biomédicas "Alberto Sols", Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), and CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
Shira Yanovsky-DaganFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Orly ElpelegFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Sniya SudhakarDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.
Kshitij MankadDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.
Tamar HarelFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.ORCID 0000-0003-3595-7075
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Hebrew University of Jerusalem · ILGreat Ormond Street Hospital · GBNational Hospital for Neurology and Neurosurgery · GBConsejo Superior de Investigaciones Científicas · ESNational Research Centre · EGNottingham University Hospitals NHS Trust · GBUniversity College Hospital · GB

Funding

Department of HealthMedical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1Wellcome TrustWellcome Trust WT093205 MAWellcome Trust WT104033AIA
6 · The paper itself

Abstract

backgroundMAPK-activated protein kinase 5 (MAPKAPK5) is an essential enzyme for diverse cellular processes. Dysregulation of the pathways regulated by MAPKAPK enzymes can lead to the development of variable diseases. Recently, homozygous loss-of-function variants in OBJECTIVE AND

methodsIn order to improve characterisation of the clinical features associated with biallelic

resultsIn the present study, we identified biallelic loss-of-function and missense

conclusionIn this study, we consolidate the causality of loss of MAPKAPK5 function and further delineate the molecular and phenotypic spectrum associated with this new ultra-rare neurodevelopmental syndrome.

Indexed as

Intellectual DisabilityNeurodevelopmental DisordersChildDevelopmental DisabilitiesHumansIntracellular Signaling Peptides and ProteinsPhenotypeProtein Serine-Threonine KinasesIntracellular Signaling Peptides and ProteinsMAP-kinase-activated kinase 5Protein Serine-Threonine KinasesGenetic VariationGenotypeHigh-Throughput Nucleotide SequencingPhenotype

Identifiers

PMID36581449
PMCPMC10423509
OpenAlexW4313289403

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.