Evidence map›Paper›PMID 33172956›Full record

ArticleJournal of medical genetics2021

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia Ur Rahman, Faisal Zafar and 21 more

Open access · hybridAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

9 citing papers in PubMed, 9 citations in OpenAlex.

  1. Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026
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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

31 authors at 14 institutions in 8 countries.

Pasquelena De NittisCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0001-7144-8425
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Alexandre SarreCardiovascular Assessment Facility, University of Lausanne, Lausanne, Switzerland.
Nicolas GuexBioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.
Jacqueline ChrastCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Audrey PutouxService de Génétique, Hopital Femme Mere Enfant, Bron, France.
Tipu SultanDepartment of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Javeria Raza AlviDepartment of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Zia Ur RahmanDepartment of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Faisal ZafarDepartment of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
Nuzhat RanaDepartment of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
Fatima RahmanDepartment of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Najwa AnwarDepartment of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Shazia MaqboolDepartment of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Joseph G GleesonDepartment of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA.ORCID 0000-0002-0889-9220
David MurphyDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Hamid GalehdariDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
Gholamreza ShariatiDepartment of Medical Genetics, Faculty of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran (the Islamic Republic of).
Neda MazaheriDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
Alireza SedaghatHealth Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran (the Islamic Republic of).
SYNAPS Study Group
Gaetan LescaService de Genetique, Hospices Civils de Lyon, Lyon, France.
Nicolas ChatronCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Vincenzo SalpietroDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Marilena ChristoforouDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Henry HouldenDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
William F SimondsMetabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, MD, USA.
Thierry PedrazziniExperimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne, Lausanne, Switzerland.
Reza MaroofianDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland alexandre.reymond@unil.ch.
National Hospital for Neurology and Neurosurgery · GBUniversity of Lausanne · CHHospices Civils de Lyon · FRMayo Hospital · PKPunjab Institute of Cardiology · PKAhvaz Jundishapur University of Medical Sciences · IRInstitute of Child Health · INNational Institutes of Health · USShahid Chamran University of Ahvaz · IRHôpital Femme Mère Enfant · FRHoward Hughes Medical Institute · USNational Research Centre · EGNeuropsychiatrie : Recherche Epidemiologique et Clinique · FRUniversity College London · GB

Funding

Medical Research Council G0601943Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MC_UP_1502/3Medical Research Council MR/J004758/1Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1The Dunhill Medical Trust R605/0717Wellcome TrustWellcome Trust WT093205Wellcome Trust WT104033AIA
6 · The paper itself

Abstract

backgroundPathogenic variants of

methodsWe used echocardiography and telemetric ECG recordings to investigate consequences of

resultsWe delineated a key role of

conclusionsOur data demonstrate that loss of negative regulation of the inhibitory G-protein signalling causes HR perturbations in

Indexed as

MutationAdolescentAnimalsArrhythmias, CardiacChildChild, PreschoolDevelopmental DisabilitiesExome SequencingFemaleGene Expression ProfilingGTP-Binding Protein beta SubunitsHeartHeart RateHumansMaleMiceGNB5 protein, humanGTP-Binding Protein beta Subunitscardiac conduction anomaliesGnb5-null mouse modelsGNB5variantsIDDCA

Identifiers

PMID33172956
PMCPMC8639930
OpenAlexW3099429396

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.