Evidence map›Paper›PMID 32678152›Full record

ArticleScientific reports2020

FMR1 mRNA from full mutation alleles is associated with ABC-C

Emma K Baker, Marta Arpone, Claudine Kraan, Minh Bui, Carolyn Rogers, Michael Field, Lesley Bretherton, Ling Ling, Alexandra Ure, Jonathan Cohen and 10 more

Abstract read
In one paragraph

Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

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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

20 authors.

Emma K BakerDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Marta ArponeDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Claudine KraanDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Minh BuiCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Carlton, VIC, Australia.
Carolyn RogersGenetics of Learning Disability Service, Hunter Genetics, Hunter New England Health, Waratah, NSW, Australia.
Michael FieldGenetics of Learning Disability Service, Hunter Genetics, Hunter New England Health, Waratah, NSW, Australia.
Lesley BrethertonDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Ling LingDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Alexandra UreDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.
Jonathan CohenFragile X Alliance Inc, North Caulfield, VIC, Australia.
Matthew F HunterMonash Genetics, Monash Health, Clayton, VIC, Australia.
Lorena Santa MaríaLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Victor FaundesLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Bianca CurottoLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Paulina MoralesLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Cesar TrigoLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Isabel SalasLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Angelica AlliendeLaboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
David J Amor *Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.
David E Godler *Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia. david.godler@mcri.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-C

Indexed as

AllelesMosaicismResearch DesignAdolescentAdultAustraliaChildChild, PreschoolChileCohort StudiesDNA MethylationFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGene SilencingHumansMaleFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1RNA, Messenger

Identifiers

PMID32678152
PMCPMC7367290

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.