Evidence map›Paper›PMID 37761962›Full record

ArticleGenes2023

Epigenetic Findings in Twins with Esophageal Atresia.

Michal Błoch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Płoski, Dariusz Patkowski, Pawel Karpiński, Robert Śmigiel

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 24% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

10 authors at 3 institutions in 1 country.

Michal BłochDepartment of Family and Pediatric Nursing, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Piotr GasperowiczDepartment of Medical Genetics, Medical University of Warsaw, 04-768 Warsaw, Poland.ORCID 0000-0002-1037-7974
Sylwester GerusDepartment of Pediatric Surgery and Urology, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
Katarzyna RasiewiczDepartment of Pediatric Surgery and Urology, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
Arleta LebiodaDivision of Molecular Techniques, Department of Forensic Medicine, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Pawel SkibaDepartment of Genetics, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Rafal PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 04-768 Warsaw, Poland.
Dariusz PatkowskiDepartment of Pediatric Surgery and Urology, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
Pawel KarpińskiDepartment of Genetics, Wroclaw Medical University, 51-618 Wroclaw, Poland.ORCID 0000-0003-3885-694X
Robert ŚmigielDepartment of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, 51-618 Wroclaw, Poland.ORCID 0000-0003-2930-9549
University of Wrocław · PLWroclaw Medical University · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (

Indexed as

Esophageal AtresiaChildCpG IslandsEpigenesis, GeneticGuanine Nucleotide Exchange FactorsHumansMaleProto-Oncogene ProteinsRho Guanine Nucleotide Exchange FactorsTwins, DizygoticTwins, MonozygoticARHGEF9 protein, humanGuanine Nucleotide Exchange FactorsMCF2 protein, humanProto-Oncogene ProteinsRho Guanine Nucleotide Exchange Factorsepigeneticsesophageal atresiagenomicsmethylationrare diseaseRho signaling pathway

Identifiers

PMID37761962
PMCPMC10531363
OpenAlexW4386879495

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.