Associated Papers
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
Douben H et al.
Human Mutation, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
Hirata Y et al.
The Journal of Biological Chemistry, 2016
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S et al.
Clinical Genetics, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
Spurlock G et al.
Journal of Medical Genetics, 2009
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