Evidence map›Paper›PMID 31519213›Full record

ReviewClinical epigenetics2019

"Too much guts and not enough brains": (epi)genetic mechanisms and future therapies of Hirschsprung disease - a review.

Emilie G Jaroy, Lourdes Acosta-Jimenez, Ryo Hotta, Allan M Goldstein, Ragnhild Emblem, Arne Klungland, Rune Ougland

Open access · goldAbstract readReview
In one paragraph

Review in Clinical epigenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
6.0field-weighted citation impact, top 3% 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

23 citing papers in PubMed, 40 citations in OpenAlex.

  1. Trial
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Genes · 2021
    Article
  16. Review
  17. The enteric nervous system in gastrointestinal disease etiology.Cellular and molecular life sciences : CMLS · 2021
    Review
  18. Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.The Journal of international medical research · 2021
    Article
  19. Development, Diversity, and Neurogenic Capacity of Enteric Glia.Frontiers in cell and developmental biology · 2021
    Review
  20. Review
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

7 authors at 3 institutions in 2 countries.

Emilie G JaroyClinic for Diagnostics and Intervention and Institute of Medical Microbiology, Oslo University Hospital, Rikshospitalet, 0027, Oslo, Norway.
Lourdes Acosta-JimenezClinic for Diagnostics and Intervention and Institute of Medical Microbiology, Oslo University Hospital, Rikshospitalet, 0027, Oslo, Norway.
Ryo HottaDepartment of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Allan M GoldsteinDepartment of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Ragnhild EmblemDepartment of Pediatric Surgery, Oslo University Hospital, Rikshospitalet, 0424, Oslo, Norway.
Arne KlunglandClinic for Diagnostics and Intervention and Institute of Medical Microbiology, Oslo University Hospital, Rikshospitalet, 0027, Oslo, Norway.
Rune OuglandClinic for Diagnostics and Intervention and Institute of Medical Microbiology, Oslo University Hospital, Rikshospitalet, 0027, Oslo, Norway. Rune.Ougland@rr-research.no.
Oslo University Hospital · NOHarvard University · USMassachusetts General Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hirschsprung disease is a neurocristopathy, characterized by aganglionosis in the distal bowel. It is caused by failure of the enteric nervous system progenitors to migrate, proliferate, and differentiate in the gut. Development of an enteric nervous system is a tightly regulated process. Both the neural crest cells and the surrounding environment are regulated by different genes, signaling pathways, and morphogens. For this process to be successful, the timing of gene expression is crucial. Hence, alterations in expression of genes specific for the enteric nervous system may contribute to the pathogenesis of Hirschsprung's disease. Several epigenetic mechanisms contribute to regulate gene expression, such as modifications of DNA and RNA, histone modifications, and microRNAs. Here, we review the current knowledge of epigenetic and epitranscriptomic regulation in the development of the enteric nervous system and its potential significance for the pathogenesis of Hirschsprung's disease. We also discuss possible future therapies and how targeting epigenetic and epitranscriptomic mechanisms may open new avenues for novel treatment.

Indexed as

Epigenesis, GeneticDNA MethylationGene Expression RegulationHirschsprung DiseaseHumansMicroRNAsMicroRNAsCell therapyDevelopmentEnteric nervous systemEpigeneticsHirschsprungHSCRNeural crest

Identifiers

PMID31519213
PMCPMC6743154
OpenAlexW2972412282

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.