Evidence map›Paper›PMID 28180025›Full record

ReviewJournal of pediatric genetics2017

Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.

Laila C Schenkel, David Rodenhiser, Victoria Siu, Elizabeth McCready, Peter Ainsworth, Bekim Sadikovic

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of pediatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Hypermethylation ofJournal of genetics · 2019
    Article
  6. Article
  7. Advances in Pediatric Genetic Testing.Journal of pediatric genetics · 2017
    Article
  8. 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

6 authors.

Laila C SchenkelDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Children's Health Research Institute, London, Ontario, Canada.
David RodenhiserChildren's Health Research Institute, London, Ontario, Canada; Department of Biochemistry, Western University, London, Ontario, Canada; Department of Pediatrics, Western University, London, Ontario, Canada; London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada; Department of Oncology, Western University, London, Ontario, Canada.
Victoria SiuChildren's Health Research Institute, London, Ontario, Canada; Department of Pediatrics, Western University, London, Ontario, Canada; London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada.
Elizabeth McCreadyDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Peter AinsworthDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Children's Health Research Institute, London, Ontario, Canada; Department of Biochemistry, Western University, London, Ontario, Canada; Department of Pediatrics, Western University, London, Ontario, Canada; London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada; Department of Oncology, Western University, London, Ontario, Canada.
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, London, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

There are more than 4,000 phenotypes for which the molecular basis is at least partly known. Though defects in primary DNA structure constitute a major cause of these disorders, epigenetic disruption is emerging as an important alternative mechanism in the etiology of a broad range of congenital and developmental conditions. These include epigenetic defects caused by either localized (in cis) genetic alterations or more distant (in trans) genetic events but can also include environmental effects. Emerging evidence suggests interplay between genetic and environmental factors in the epigenetic etiology of several constitutional "epi/genetic" conditions. This review summarizes our broadening understanding of how epigenetics contributes to pediatric disease by exploring different classes of epigenomic disorders. It further challenges the simplistic dogma of "DNA encodes RNA encodes protein" to best understand the spectrum of factors that can influence genetic traits in a pediatric population.

Indexed as

DNA methylationenvironmental exposuresepigeneticsgenetic syndromesimprintingpediatric diseases

Identifiers

PMID28180025
PMCPMC5288004

What OpenQuestion holds

Textmetadata
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.