Evidence map›Paper›PMID 39371131›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Biallelic variants in

Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S Conway, Anju Shukla and 30 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

40 authors.

Thomas B Smith *Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0003-2464-5674
Robert Kopajtich *Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.
Leigh A M DemainDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0001-8694-7710
Alessandro ReaDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0002-6204-846X
Huw B ThomasDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
Manuel SchiffUniversité Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France.
Christian BeetzCentogene GmbH, Rostock, Germany.
Shelagh JossWest of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Gerard S ConwayInstitute for Women's Health, University College London, London, United Kingdom.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Mayuri YeoleDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Periyasamy RadhakrishnanDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Hatem AzzouzService de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia.
Amel Ben ChehidaService de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia.
Monique Elmaleh-BergèsService de Radiologie Pédiatrique, Hôpital Robert-Debré, APHP, Paris, France.
Ruth I C GlasgowDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Kyle ThompsonMitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Monika OláhováMitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Langping HeNHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.
Emma M JenkinsonDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
Amir JahicInstitute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Inna A BelyantsevaLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA.
Melanie BarzikLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA.
Jill E UrquhartDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
James O' SullivanDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
Simon G WilliamsDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
Sanjeev S BhaskarDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
Samantha CarreraGenome Editing Unit, The University of Manchester, Manchester, M13 9PT, UK.
Alexander J M BlakesDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0002-0260-7020
Siddharth BankaDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0002-8527-2210
Wyatt W YueNewcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Jamie M EllingfordDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
Henry HouldenDepartment of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID 0000-0002-2866-7777
DDD Study
Kevin J MunroManchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, The University of Manchester, Manchester, UK.
Thomas B FriedmanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA.
Robert W TaylorMitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Holger ProkischInstitute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.
Raymond T O'KeefeDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0001-8764-1289
William G NewmanDivision of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.ORCID 0000-0002-6382-4678

Funding

Identification of Genes Causing Syndromic And Nonsyndromic Hearing ImpairmentZ01DC000039 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS BAER · 1997 to 2008
$7.2M
SPEECH AND HEARING SCIENCEST32DC000039 · NIDCD · CUNY GRADUATE SCH AND UNIV CTR · PI SCHWARTZ, RICHARD G · 1992 to 2002
$429k
Intramural NIH HHS Z01 DC000039NIDCD NIH HHS T32 DC000039Wellcome Trust
6 · The paper itself

Abstract

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency. Here, we describe five unrelated individuals with biallelic variants in the

Indexed as

DAP3leukodystrophymitochondriamitoribosomal small subunitmitoribosomeMRPS29ovarian insufficiencyPerrault syndromerare diseasesensorineural hearing loss

Identifiers

PMID39371131
PMCPMC11451657

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.