Special Issue "New Molecular Insights into Neurocutaneous Syndromes"
Deadline for manuscript submissions: closed (30 April 2021).
Interests: new technologies and methods for molecular diagnosis; discovery of disease-severity-determining molecular factors; analysis of molecular pathway dysfunctions and cross-talking abnormalities associated with gene mutations; quest for possibilities of new molecular targeted drugs
Neurocutaneous syndrome is a category of genetic disease characterized by both skin and brain lesions with tumor formation, which comprises neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC), Sturge–Weber syndrome (SWS), and various other disorders. In recent years, causative genes of these syndromes have been identified, and these molecules have been revealed to commonly regulate RAS/MAPK and PI3K/mTOR pathways, which are also shared with cancer. This has led to the emergence of a new concept based on which neurocutaneous syndromes have a common molecular basis as a framework, and clinical application of molecular targeted drugs such as mTOR inhibitors has been done. Genetic diagnosis of these syndromes is still difficult because mutation patterns are diverse, including deep intronic mutations, and a certain population of patients have mosaic mutations. SWS (GNAQ) and some rare RAS mutation syndromes are caused by specific gain-of-function mutations as somatic mosaicism. Syndromes caused by haploinsufficiency due to loss-of-function mutations such as NF1 and TSC are basically no genotype–phenotype correlations. However, the severity of individual patient varies even in a single family for some unknown reason. In this Special Issue, we will focus on new molecular insight of neurocutaneous syndromes, welcoming all those studies on more sophisticated genetic diagnosis, discovery of severity-determining factors, analysis of molecular pathway dysfunctions and cross-talking abnormalities associated with gene mutations, and quest for possibilities of new molecular targeted drugs.
Dr. Yo Niida
Manuscript Submission Information
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- Neurocutaneous syndromes
- Neurofibromatosis type 1
- Tuberous sclerosis complex
- Sturge–Weber syndrome
- Molecular diagnosis
- Mosaic mutation
- Deep intronic mutation
- Molecular basis of risk factors for disease severity
- RAS/MAPK pathway
- PI3K/mTOR pathway
- Dysregulation of signal transduction pathway caused by gene mutations
- Molecular targeted therapy