PTPN11 (Shp2) Mutations in LEOPARD Syndrome Have Dominant Negative, Not Activating, Effects
Open Access
- 1 March 2006
- journal article
- Published by Elsevier BV
- Vol. 281 (10), 6785-6792
- https://doi.org/10.1074/jbc.m513068200
Abstract
No abstract availableThis publication has 41 references indexed in Scilit:
- Noonan Syndrome Mutation Q79R in Shp2 Increases Proliferation of Valve Primordia Mesenchymal Cells via Extracellular Signal–Regulated Kinase 1/2 SignalingCirculation Research, 2005
- Diverse Biochemical Properties of Shp2 MutantsJournal of Biological Chemistry, 2005
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemiaJournal of Human Genetics, 2005
- PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experienceJournal of Medical Genetics, 2004
- Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaBlood, 2004
- SHP-2 Positively Regulates Myogenesis by Coupling to the Rho GTPase Signaling PathwayMolecular and Cellular Biology, 2004
- Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndromeJournal of Medical Genetics, 2004
- Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationHuman Mutation, 2004
- Cell Migration: Integrating Signals from Front to BackScience, 2003
- Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 GeneAmerican Journal of Human Genetics, 2002