Evidence map›Paper›PMID 28933395›Full record

ReviewDiseases (Basel, Switzerland)2016

Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine.

Takeo Kubota, Kunio Miyake, Natsuyo Hariya, Vuong Tran Nguyen Quoc, Kazuki Mochizuki

Open access · goldAbstract readReview
In one paragraph

Review in Diseases (Basel, Switzerland), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Suppression of Dynamical Network Biomarker Signals at the Predisease State (Evidence-based complementary and alternative medicine : eCAM · 2020
    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 2 institutions in 1 country.

Takeo KubotaDepartment of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan. takeokubota27@gmail.com.
Kunio MiyakeDepartment of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan. kmiyake@yamanashi.ac.jp.
Natsuyo HariyaDepartment of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan. natsuyoh@yamanashi.ac.jp.
Vuong Tran Nguyen QuocDepartment of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan. g15dhe04@yamanashi.ac.jp.
Kazuki MochizukiDepartment of Local Produce and Food Sciences, Faculty of Life and Environmental Sciences, University of Yamanashi, 4-4-37, Takeda, Kofu, Yamanashi 400-8510, Japan. mochizukik@yamanashi.ac.jp.
University of Yamanashi Hospital · JPTakeda (Japan) · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prader-Willi syndrome (PWS) is a congenital neurodevelopmental disorder caused by loss of function of paternally expressed genes on chromosome 15 due to paternal deletion of 15q11-q13, maternal uniparental disomy for chromosome 15, or an imprinting mutation. We previously developed a DNA methylation-based PCR assay to identify each of these three genetic causes of PWS. The assay enables straightforward and rapid diagnosis during infancy and therefore allows early intervention such as nutritional management, physical therapy, or growth hormone treatment to prevent PWS patients from complications such as obesity and type 2 diabetes. It is known that various environmental factors induce epigenomic changes during the perinatal period, which increase the risk of adult diseases such as type 2 diabetes and intellectual disabilities. Therefore, a similar preemptive approach as used in PWS would also be applicable to acquired disorders and would make use of environmentally-introduced "epigenomic signatures" to aid development of early intervention strategies that take advantage of "epigenomic reversibility".

Indexed as

diagnosisepigeneticsepigenomicsgenomic imprintinginterventionPrader-Willi syndromepreemptive medicine

Identifiers

PMID28933395
PMCPMC5456307
OpenAlexW2296270743

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.