Transcriptomics and Proteomics in RASopathies
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 2141
Special Issue Editor
Special Issue Information
Dear Colleagues,
RASopathies are a group of disorders caused by a germline mutation generally in one of the genes encoding effectors, controlling the regulation of RAS/MAPK pathway activation. More recently, a digenic model of subclinical variants has been proposed in NS patients without a full NS mutation. This pathway is fundamental for normal development, with knockout mouse models of different components being associated with embryonic lethality. While there is an extensive literature on variants and genotypes specifically associated to RASopathies, much less is known about the extent of transcriptome, proteome, and phosphoproteome changes in this group of syndromes. This Special Issue aims to provide new insights into transcriptional, post-transcriptional, post-translational alterations and changes in phosphorylation in RASopathies, with the goal for future studies to identify the molecular mechanisms at the base of RAS pathway activation, besides potential druggable genes for the development of effectives drugs.
Prof. Dr. Paola Riva
Guest Editor
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Keywords
- RASopathies
- RAS pathway
- gene expression
- transcriptome
- post-transcriptional regulation
- post-translational modification
- proteome
- phosphoproteome
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