Evidence map›Paper›PMID 31695049›Full record

ArticleScientific data2019

A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.

Rossella De Cegli, Simona Iacobacci, Anthony Fedele, Andrea Ballabio, Diego di Bernardo

Open access · goldAbstract readDataset
In one paragraph

Article in Scientific data, 2019. 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 47% 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

5 authors at 3 institutions in 3 countries.

Rossella De CegliTelethon Institute of Genetics and Medicine (TIGEM), via Campi Flegrei, 34, 80078, Pozzuoli, Naples, Italy. decegli@tigem.it.ORCID http://orcid.org/0000-0002-8526-8692
Simona IacobacciTelethon Institute of Genetics and Medicine (TIGEM), via Campi Flegrei, 34, 80078, Pozzuoli, Naples, Italy.
Anthony FedeleLysosomal Diseases Research Unit, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Andrea BallabioTelethon Institute of Genetics and Medicine (TIGEM), via Campi Flegrei, 34, 80078, Pozzuoli, Naples, Italy.ORCID http://orcid.org/0000-0003-1381-4604
Diego di BernardoTelethon Institute of Genetics and Medicine (TIGEM), via Campi Flegrei, 34, 80078, Pozzuoli, Naples, Italy.ORCID http://orcid.org/0000-0002-1911-7407
Telethon Institute Of Genetics And Medicine · ITBaylor College of Medicine · USSouth Australian Health and Medical Research Institute · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Williams-Beuren syndrome (WBS) is a relatively rare disease caused by the deletion of 1.5 to 1.8 Mb on chromosome 7 which contains approximately 28 genes. This multisystem disorder is mainly characterized by supravalvular aortic stenosis, mental retardation, and distinctive facial features. We generated mouse embryonic stem (ES) cells clones expressing each of the 4 human WBS genes (WBSCR1, GTF2I, GTF2IRD1 and GTF2IRD2) found in the specific delated region 7q11.23 causative of the WBS. We generated at least three stable clones for each gene with stable integration in the ROSA26 locus of a tetracycline-inducible upstream of the coding sequence of the genet tagged with a 3xFLAG epitope. Three clones for each gene were transcriptionally profiled in inducing versus non-inducing conditions for a total of 24 profiles. This small collection of human WBS-ES cell clones represents a resource to facilitate the study of the function of these genes during differentiation.

Indexed as

Mouse Embryonic Stem CellsTranscriptomeAnimalsChromosomes, Human, Pair 7Eukaryotic Initiation FactorsHumansMiceMuscle ProteinsNuclear ProteinsTrans-ActivatorsTranscription Factors, TFIITranscription Factors, TFIIIWilliams SyndromeEIF4H protein, humanEukaryotic Initiation FactorsGTF2I protein, humanGTF2IRD1 protein, humanGTF2IRD2 protein, humanMuscle ProteinsNuclear ProteinsTrans-ActivatorsTranscription Factors, TFIITranscription Factors, TFIII

Identifiers

PMID31695049
PMCPMC6834640
OpenAlexW2985818078

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.