Evidence map›Paper›PMID 40442389›Full record

ReviewAdvances in experimental medicine and biology2025

Rett Syndrome: Thinking Beyond Brain Borders.

Yi Liu, Ruisi Guo, Rudolf Jaenisch

Abstract readReview
PubMed Publisher
In one paragraph

Review in Advances in experimental medicine and biology, 2025. 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
–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

2 citing papers in PubMed.

  1. Article
  2. 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

3 authors.

Yi Liu *Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Ruisi Guo *Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Rudolf JaenischWhitehead Institute for Biomedical Research, Cambridge, MA, USA. jaenisch@wi.mit.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rett Syndrome (RTT) is a severe neurological disorder caused by mutations in the MECP2 gene. This disorder primarily affects brain development, leading to profound cognitive and motor impairments. Conventionally, research on RTT has concentrated on the neurological impact of MECP2 mutations. However, other evidence suggests that the influence of RTT extends beyond neural boundaries, impacting a broad spectrum of other tissues and organ systems. This chapter provides an overview of identified abnormalities in respiratory, skeletal, cardiac, liver, endocrine, urinary, immune, and gastrointestinal systems in patients with RTT or related disease models. We further explore the potential pathways involved in the brain-body circuit and their impact on the development of RTT. These insights not only enhance our understanding of the multi-system involvement in RTT, but also reveal the necessity for a more comprehensive approach to investigating the systemic courses of neurological disorders.

Indexed as

BrainMethyl-CpG-Binding Protein 2Rett SyndromeAnimalsHumansMutationMECP2 protein, humanMethyl-CpG-Binding Protein 2Autonomic nervous systemEndocrine systemImmune systemMECP2MetabolismRett syndromeTranscriptional regulation

Identifiers

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.