Associated Papers
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S13_RASopathy_B
Tuneable endogenous mammalian target complementation via multiplexed plasmid-based recombineering.
Beltran-Sastre V et al.
Scientific Reports, 2015
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
De Rocca Serra-Nédélec A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton.
Langdon Y et al.
Development (cambridge, England), 2012
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
Hanna N et al.
Febs Letters, 2006
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
Tartaglia M et al.
American Journal of Human Genetics, 2006
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
Fragale A et al.
Human Mutation, 2004
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Tartaglia M et al.
Nature Genetics, 2003
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