Evidence map›Paper›PMID 37048120›Full record

ArticleCells2023

Loss-of-Function Variants in

Kimberley M Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.7field-weighted citation impact, top 18% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
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

16 authors at 8 institutions in 4 countries.

Kimberley M ReidMolecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
Dora SteelMolecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
Sanjana NairLeibniz Institute of Virology (LIV), Centre for Structural Systems Biology (CSSB), 20251 Hamburg, Germany.ORCID 0000-0002-1861-417X
Sanjay BhateDepartment of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Lorenzo BiassoniDepartment of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Sniya SudhakarDepartment of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Michelle HeysDepartment of Population, Policy and Practice, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.ORCID 0000-0002-1458-505X
Elizabeth BurkeOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD 20892, USA.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.
Genomics England Research ConsortiumGenomics England, London EC1M 6BQ, UK.
Biju HameedDepartment of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Michael ZechInstitute of Human Genetics, School of Medicine, Technical University of Munich, 85354 Munich, Germany.
Niccolo E MencacciFeinberg School of Medicine, Northwestern University, Chicago IL 60611, USA.
Katy BarwickMolecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
Maya TopfLeibniz Institute of Virology (LIV), Centre for Structural Systems Biology (CSSB), 20251 Hamburg, Germany.ORCID 0000-0002-8185-1215
Manju A KurianMolecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
Great Ormond Street Hospital · GBCentre for Structural Systems Biology · DEUniversity College London · GBEast London NHS Foundation Trust · GBHelmholtz Zentrum München · DENational Institutes of Health · USNorthwestern University · USRadboud University Nijmegen · NL

Funding

Department of Health NIHR-RP-2016-07-019Medical Research Council MR/S036784/1Wellcome Trust
6 · The paper itself

Abstract

The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dysautonomia and global neurodevelopmental impairment. CSF neurotransmitter analysis was unexpectedly normal. Triome whole-genome sequencing revealed a homozygous variant (c.110C>A, (p.T37K)) in

Indexed as

DystoniaDystonic DisordersParkinson DiseaseHumansReceptors, Dopamine D1DRD1 protein, humanReceptors, Dopamine D1dopamineDRD1dystoniaparkinsonism

Identifiers

PMID37048120
PMCPMC10093404
OpenAlexW4361273876

What OpenQuestion 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 OpenQuestion graph.