Evidence map›Paper›PMID 39201250›Full record

ReviewInternational journal of molecular sciences2024

Biomarker Landscape in RASopathies.

Noemi Ferrito, Juan Báez-Flores, Mario Rodríguez-Martín, Julián Sastre-Rodríguez, Alessio Coppola, María Isidoro-García, Pablo Prieto-Matos, Jesus Lacal

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. 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

8 authors.

Noemi FerritoLaboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0002-5167-2849
Juan Báez-FloresLaboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0001-9379-4257
Mario Rodríguez-MartínLaboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0002-3519-0516
Julián Sastre-RodríguezLaboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.
Alessio CoppolaLaboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0009-0009-9914-4197
María Isidoro-GarcíaInstitute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.
Pablo Prieto-MatosGIR of Biomedicine of Rare Diseases, University of Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0003-2680-3285
Jesus LacalLaboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0002-2751-7291

Funding

Fundación Alicia Koplowitz FAK21/001
6 · The paper itself

Abstract

RASopathies are a group of related genetic disorders caused by mutations in genes within the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and differentiation, and its disruption can lead to a variety of developmental and health issues. RASopathies present diverse clinical features and pose significant diagnostic and therapeutic challenges. Studying the landscape of biomarkers in RASopathies has the potential to improve both clinical practices and the understanding of these disorders. This review provides an overview of recent discoveries in RASopathy molecular profiling, which extend beyond traditional gene mutation analysis. mRNAs, non-coding RNAs, protein expression patterns, and post-translational modifications characteristic of RASopathy patients within pivotal signaling pathways such as the RAS/MAPK, PI3K/AKT/mTOR, and Rho/ROCK/LIMK2/cofilin pathways are summarized. Additionally, the field of metabolomics holds potential for uncovering metabolic signatures associated with specific RASopathies, which are crucial for developing precision medicine. Beyond molecular markers, we also examine the role of histological characteristics and non-invasive physiological assessments in identifying potential biomarkers, as they provide evidence of the disease's effects on various systems. Here, we synthesize key findings and illuminate promising avenues for future research in RASopathy biomarker discovery, underscoring rigorous validation and clinical translation.

Indexed as

Biomarkersras ProteinsAnimalsCostello SyndromeEctodermal DysplasiaFaciesFailure to ThriveHeart Defects, CongenitalHumansMutationPort-Wine StainSignal TransductionBiomarkersras Proteinsbiomarkersmolecular signaturespersonalized diagnosticsprecision medicineRASopathies

Identifiers

PMID39201250
PMCPMC11354534

What OpenQuestion holds

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Registered trials

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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.