Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

The Ras Gene02:38

The Ras Gene

6.2K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
6.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Unsupervised Machine-Learning-Based Endotype Discovery Using Iterative Resampling in Dupilumab-Treated Patients.

International journal of molecular sciences·2026
Same author

Clinical importance of the 5-Step Precision Medicine (5SPM) method in shared decision-making to choose the antipsychotic treatment for a patient with first-episode psychosis: a case report.

BMC psychiatry·2026
Same author

Growth Differentiation Factor 15 as a Biomarker of Cardiovascular Burden and Mortality in a Population-Based Cohort.

International journal of molecular sciences·2026
Same author

Pharmacogenetics and laboratory medicine: from individual genes towards integral genetic testing.

Advances in laboratory medicine·2025
Same author

PD-1 Expression Promotes Immune Evasion in B-ALL.

Hematology reports·2025
Same author

Recommendations for the study of monoclonal gammopathies in the clinical laboratory. A consensus of the Spanish Society of Laboratory Medicine and the Spanish Society of Hematology and Hemotherapy. Part III: Clinical and analytical recommendations for the study of monoclonal gammopathies by MALDI-TOF mass spectrometry.

Clinical chemistry and laboratory medicine·2025

Related Experiment Video

Updated: Jun 14, 2025

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances
07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

7.4K

Biomarker Landscape in RASopathies.

Noemi Ferrito1,2,3, Juan Báez-Flores1,2,3, Mario Rodríguez-Martín1,2,3

  • 1Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.

International Journal of Molecular Sciences
|August 29, 2024
PubMed
Summary
This summary is machine-generated.

RASopathies, genetic disorders from RAS/MAPK pathway mutations, show diverse symptoms. Biomarker discovery, including molecular and histological markers, is key for better diagnosis and precision medicine in these conditions.

Keywords:
RASopathiesbiomarkersmolecular signaturespersonalized diagnosticsprecision medicine

More Related Videos

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
14:27

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data

Published on: June 26, 2013

15.6K
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

16.5K

Related Experiment Videos

Last Updated: Jun 14, 2025

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances
07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

7.4K
Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
14:27

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data

Published on: June 26, 2013

15.6K
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

16.5K

Area of Science:

  • Genetics and Molecular Biology
  • Developmental Biology
  • Precision Medicine

Background:

  • RASopathies are a group of genetic disorders stemming from the RAS/MAPK signaling pathway.
  • Mutations in this pathway disrupt cell division, growth, and differentiation, leading to varied health issues.
  • Diverse clinical presentations and challenges in diagnosis and treatment necessitate advanced research.

Purpose of the Study:

  • To review recent advancements in RASopathy molecular profiling beyond gene mutations.
  • To explore potential biomarkers, including molecular, histological, and physiological markers.
  • To highlight future research directions for biomarker discovery and clinical translation.

Main Methods:

  • Summarizing findings on molecular profiles: mRNAs, non-coding RNAs, protein expression, and post-translational modifications.
  • Reviewing the role of metabolomics in identifying disease-specific metabolic signatures.
  • Examining histological characteristics and non-invasive physiological assessments for biomarker identification.

Main Results:

  • Recent discoveries extend beyond traditional gene mutation analysis in RASopathies.
  • Various molecular markers (RNA, proteins, metabolites) and physiological assessments show promise.
  • Histological features also offer insights into disease mechanisms and potential biomarkers.

Conclusions:

  • Biomarker discovery in RASopathies is crucial for improving clinical practices and understanding these complex disorders.
  • A multi-faceted approach, integrating molecular, histological, and physiological data, is essential.
  • Rigorous validation and clinical translation are paramount for realizing the potential of these biomarkers in precision medicine.