Evidence map›Paper›PMID 39210910›Full record

ArticleBrain communications2024

Impact of pathogenic variants of the Ras-mitogen-activated protein kinase pathway on major white matter tracts in the human brain.

Monica Siqueiros-Sanchez, Erpeng Dai, Chloe A McGhee, Jennifer A McNab, Mira M Raman, Tamar Green

Abstract read
In one paragraph

Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. 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.

Monica Siqueiros-SanchezBrain Imaging, Development and Genetic (BRIDGE) Lab, Stanford University School of Medicine, Palo Alto, CA 94306, USA.ORCID https://orcid.org/0000-0002-5455-6210
Erpeng DaiDepartment of Radiology, Stanford University, Stanford, CA 94305-5105, USA.
Chloe A McGheeBrain Imaging, Development and Genetic (BRIDGE) Lab, Stanford University School of Medicine, Palo Alto, CA 94306, USA.
Jennifer A McNabDepartment of Radiology, Stanford University, Stanford, CA 94305-5105, USA.
Mira M RamanBrain Imaging, Development and Genetic (BRIDGE) Lab, Stanford University School of Medicine, Palo Alto, CA 94306, USA.
Tamar GreenBrain Imaging, Development and Genetic (BRIDGE) Lab, Stanford University School of Medicine, Palo Alto, CA 94306, USA.ORCID https://orcid.org/0000-0001-5661-8297

Funding

Gaining insights: the effects of the RMK gain-of-function mutations on brain development and neurodevelopmental disordersR01HD108684 · NICHD · STANFORD UNIVERSITY · PI Tamar Green · 2022 to 2026
$3.0M
Ras/MAPK Mutations Effects on the Developing BrainK23HD090209 · NICHD · STANFORD UNIVERSITY · PI GREEN, TAMAR · 2018 to 2022
$837k
NICHD NIH HHS K23 HD090209NICHD NIH HHS R01 HD108684
6 · The paper itself

Abstract

Noonan syndrome and neurofibromatosis type 1 are genetic conditions linked to pathogenic variants in genes of the Ras-mitogen-activated protein kinase signalling pathway. Both conditions hyper-activate signalling of the Ras-mitogen-activated protein kinase pathway and exhibit a high prevalence of neuropsychiatric disorders. Further, animal models of Noonan syndrome and neurofibromatosis type 1 and human imaging studies show white matter abnormalities in both conditions. While these findings suggest Ras-mitogen-activated protein kinas pathway hyper-activation effects on white matter, it is unknown whether these effects are syndrome-specific or pathway-specific. To characterize the effect of Noonan syndrome and neurofibromatosis type 1 on human white matter's microstructural integrity and discern potential syndrome-specific influences on microstructural integrity of individual tracts, we collected diffusion-weighted imaging data from children with Noonan syndrome (

Indexed as

association tractsdevelopmental neuroimagingdiffusion MRIneurofibromatosis type 1Noonan syndrome

Identifiers

PMID39210910
PMCPMC11358645

What Socratic 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 Socratic graph.