Evidence map›Paper›PMID 28861129›Full record

ArticleClinical epigenetics2017

Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome.

T Guastafierro, M G Bacalini, A Marcoccia, D Gentilini, S Pisoni, A M Di Blasio, A Corsi, C Franceschi, D Raimondo, A Spanò and 2 more

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

Article in Clinical epigenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

21 citing papers in PubMed, 41 citations in OpenAlex.

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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

12 authors at 5 institutions in 2 countries.

T GuastafierroUOC of Clinical Biochemistry, Sandro Pertini Hospital, Rome, Italy.ORCID 0000-0001-9433-2759
M G BacaliniIRCCS Institute of Neurological Sciences, Bologna, Italy.
A MarcocciaCRIIS (Interdisciplinary, Interdepartmental and Specialistic Reference Center for Early Diagnosis of Scleroderma, Treatment of Sclerodermic Ulcers and Videocapillaroscopy), Sandro Pertini Hospital, Rome, Italy.
D GentiliniCentre for Biomedical Research and Technologies, Italian Auxologic Institute, IRCCS, Milan, Italy.
S PisoniCentre for Biomedical Research and Technologies, Italian Auxologic Institute, IRCCS, Milan, Italy.
A M Di BlasioCentre for Biomedical Research and Technologies, Italian Auxologic Institute, IRCCS, Milan, Italy.
A CorsiDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
C FranceschiIRCCS Institute of Neurological Sciences, Bologna, Italy.
D RaimondoDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
A SpanòUOC of Clinical Biochemistry, Sandro Pertini Hospital, Rome, Italy.
P GaragnaniDepartment of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
F BondaniniCRIIS (Interdisciplinary, Interdepartmental and Specialistic Reference Center for Early Diagnosis of Scleroderma, Treatment of Sclerodermic Ulcers and Videocapillaroscopy), Sandro Pertini Hospital, Rome, Italy.
Ospedale Sandro Pertini · ITIRCCS Istituto Auxologico Italiano · ITInstitute of Neurological Sciences · ITSapienza University of Rome · ITKarolinska University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWerner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome, the molecular alterations that lead to disease phenotype remain still unidentified.

resultsTo address whether epigenetic changes can be associated with Werner syndrome phenotype, we analysed genome-wide DNA methylation profile using the Infinium MethylationEPIC BeadChip in the whole blood from three patients affected by Werner syndrome compared with three age- and sex-matched healthy controls. Hypermethylated probes were enriched in glycosphingolipid biosynthesis, FoxO signalling and insulin signalling pathways, while hypomethylated probes were enriched in PI3K-Akt signalling and focal adhesion pathways. Twenty-two out of 47 of the differentially methylated genes belonging to the enriched pathways resulted differentially expressed in a publicly available dataset on Werner syndrome fibroblasts. Interestingly, differentially methylated regions identified

conclusionsDNA methylation changes in the peripheral blood from Werner syndrome patients provide new insight in the pathogenesis of the disease, highlighting in some cases a functional correlation of gene expression and methylation status.

Indexed as

DNA MethylationGene Regulatory NetworksCase-Control StudiesCpG IslandsEpigenesis, GeneticFemaleGenome-Wide Association StudyGlycosphingolipidsHumansMaleMembrane ProteinsSignal TransductionSphingosine N-AcyltransferaseWerner SyndromeCERS1 protein, humanCERS3 protein, humanGlycosphingolipidsMembrane ProteinsSphingosine N-AcyltransferaseDNA methylationSystemic sclerosisWerner syndrome

Identifiers

PMID28861129
PMCPMC5577832
OpenAlexW2753694972

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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.