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Related Concept Videos

The Ras Gene02:38

The Ras Gene

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 superfamily...
The Ras Gene02:38

The Ras Gene

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 superfamily...
Small GTPases - Ras and Rho01:24

Small GTPases - Ras and Rho

Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
Three regulatory proteins control their activity:
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...

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Updated: May 9, 2026

An Efficient Protocol to Assess ERK Activity Modulation in Early Zebrafish Noonan Syndrome Models via Live FRET Microscopy and Immunofluorescence
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An Efficient Protocol to Assess ERK Activity Modulation in Early Zebrafish Noonan Syndrome Models via Live FRET Microscopy and Immunofluorescence

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The RASopathies.

Katherine A Rauen1

  • 1Department of Pediatrics, Division of Medical Genetics, and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California 94115;

Annual Review of Genomics and Human Genetics
|July 24, 2013
PubMed
Summary
This summary is machine-generated.

RASopathies are genetic disorders caused by mutations in the Ras/mitogen-activated protein kinase (MAPK) pathway, leading to developmental issues. Research is exploring targeted therapies for these conditions.

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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

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Last Updated: May 9, 2026

An Efficient Protocol to Assess ERK Activity Modulation in Early Zebrafish Noonan Syndrome Models via Live FRET Microscopy and Immunofluorescence
09:58

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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
07:49

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

Published on: July 17, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • RASopathies are a group of genetic syndromes stemming from mutations in the Ras/mitogen-activated protein kinase (MAPK) pathway.
  • These syndromes share overlapping features due to common pathway dysregulation, impacting cell cycle, growth, and differentiation.
  • The Ras/MAPK pathway is crucial for normal embryonic and developmental processes.

Purpose of the Study:

  • To summarize the clinical and molecular aspects of RASopathies.
  • To highlight the shared Ras/MAPK pathway dysregulation across different RASopathies.
  • To discuss the potential of targeting the Ras/MAPK pathway for therapeutic interventions.

Main Methods:

  • Review of existing literature on RASopathies and the Ras/MAPK pathway.
  • Analysis of genotype-phenotype correlations in various RASopathies.
  • Examination of the role of Ras/MAPK pathway in development and cancer.

Main Results:

  • Identified seven distinct RASopathies: neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome.
  • Confirmed that germline mutations in Ras/MAPK pathway genes cause these disorders.
  • Demonstrated significant overlap in phenotypic features among RASopathies due to shared pathway defects.

Conclusions:

  • RASopathies represent a spectrum of developmental disorders linked by Ras/MAPK pathway dysfunction.
  • Understanding this pathway is key to comprehending the pathogenesis of these syndromes.
  • Targeting the Ras/MAPK pathway, a known target in cancer, is a promising avenue for treating RASopathies.