Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
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Summary
An overview of the phenotypic spectrum associated with germline mutations perturbing RAS‐MAPK signaling is provided, the unpredicted molecular mechanisms converging toward the dysregulation of this signaling cascade, and major genotype–phenotype correlations are provided.
- Type
- review
- Published
- 2010-10-19
- Cited by
- 198
- References
- 195
- Access
- Open access
- OpenAlex
- https://openalex.org/W1914707730
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:26605545
Keywords
Phenotype, MAPK/ERK pathway, Signal pathway, Signal transduction, Genetics
References
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Cited by
- Clinical, genetic and functional characterization of intellectual disability disorders
- Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
- The impact of the genetic background in the Noonan syndrome phenotype induced by K-RasV14I
- Improved growth velocity of a patient with Noonan‐like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low‐dose growth hormone therapy
- SHP2 sails from physiology to pathology.
- Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11
- Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome
- Prenatal features of Noonan syndrome: prevalence and prognostic value
- Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy
- 14-3-3 Proteins: Diverse Functions in Cell Proliferation and Cancer Progression
- BRAF and MEK Gene Rearrangements in Melanoma: Implications for Targeted Therapy
- A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
- Downregulation of ER60 Protease Inhibits Cellular Proliferation by Inducing G1/S Arrest in Breast Cancer Cells In Vitro
- A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions
- Genetics of heart failure in congenital heart disease.
- The Proto-Oncogene KRAS and BRAF Profiles and Some Clinical Characteristics in Colorectal Cancer in the Turkish Population
- Verbal Memory Functioning in Adolescents and Young Adults with Costello Syndrome: Evidence for Relative Preservation in Recognition Memory
- Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation
- Expression of SPRR3 is associated with tumor cell proliferation in less advanced stages of breast cancer
- Clinical and Molecular Findings of Tunisian Patients with RASopathies
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