Are the rasopathies caused by gain-of-function mutations?
Best insight from top research papers
RASopathies are a group of medical genetics syndromes caused by germ-line mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway . These mutations result in dysregulation of the MAPK pathway, leading to activation of the pathway . The common underlying biochemical phenotype shared by all RASopathies is Ras/MAPK pathway activation . Gain-of-function mutations in the RAS-MAPK pathway have been identified as a causal mechanism for RASopathies . These gain-of-function mutations result in increased MEK-ERK signaling, which is the primary functional mechanism underlying RASopathies . The phenotypic spectrum of RASopathies is likely to expand as more mutations are identified, and includes a range of functional and morphological abnormalities . Therefore, it can be concluded that RASopathies are indeed caused by gain-of-function mutations in the RAS-MAPK pathway .
Answers from top 5 papers
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| Papers (5) | Insight |
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69 Citations | The provided paper does not directly answer the question about whether the RASopathies are caused by gain-of-function mutations. The paper discusses the use of animal models to study RASopathies and the effects of specific mutations on tissue development and morphogenesis. However, it does not specifically address whether these mutations are gain-of-function or loss-of-function. |
93 Citations | The paper does not explicitly state whether the RASopathies are caused by gain-of-function mutations. |
37 Citations | Yes, the paper states that RASopathies are caused by gain-of-function mutations in the RAS-MAPK signaling pathway. |
18 Citations | The paper does not explicitly mention whether the rasopathies are caused by gain-of-function mutations. |
21 Citations | Yes, the paper states that germline RASopathies and rare somatic RASopathies are caused by gain-of-function mutations in the RAS-RAF-MEK-ERK signaling pathway. |
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