Evidence map›Paper›PMID 38847227›Full record

ReviewDisease models & mechanisms2024

RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.

Katherine A Rauen, William E Tidyman

Abstract readReview
In one paragraph

Review in Disease models & mechanisms, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
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  3. Review
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  5. Article
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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

2 authors.

Katherine A RauenDepartment of Pediatrics, Division of Genomic Medicine, University of California Davis, Sacramento, CA, 95817, USA.ORCID 0000-0003-1719-7228
William E TidymanUniversity of California Davis MIND Institute, Sacramento, CA 95817, USA.

Funding

The Role of Germline Mutations of the Ras/MAPK Pathway on Skeletal MyogenesisR01AR062165 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RAUEN, KATHERINE ANNA · 2012 to 2017
$2.1M
Elucidation of the genetic etiology of Costello SyndromeK23HD048502 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RAUEN, KATHERINE ANNA · 2005 to 2009
$609k
NIAMS NIH HHS R01 AR062165NICHD NIH HHS K23 HD048502NIH HHS K23HD048502
6 · The paper itself

Abstract

RASopathies are rare developmental genetic syndromes caused by germline pathogenic variants in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Although the incidence of each RASopathy syndrome is rare, collectively, they represent one of the largest groups of multiple congenital anomaly syndromes and have severe developmental consequences. Here, we review our understanding of how RAS/MAPK dysregulation in RASopathies impacts skeletal muscle development and the importance of RAS/MAPK pathway regulation for embryonic myogenesis. We also discuss the complex interactions of this pathway with other intracellular signaling pathways in the regulation of skeletal muscle development and growth, and the opportunities that RASopathy animal models provide for exploring the use of pathway inhibitors, typically used for cancer treatment, to correct the unique skeletal myopathy caused by the dysregulation of this pathway.

Indexed as

Muscle DevelopmentMuscle, Skeletalras ProteinsAnimalsDisease Models, AnimalHumansMAP Kinase Signaling SystemMitogen-Activated Protein KinasesSignal TransductionMitogen-Activated Protein Kinasesras ProteinsCardio-facio-cutaneous syndromeCostello syndromeMyopathyNeurofibromatosis type 1Rare disorderRASopathyRAS pathwaySkeletal myogenesisTreatment

Identifiers

PMID38847227
PMCPMC11179721

What Socratic 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 Socratic graph.