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Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations
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Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling
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Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
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HUMAN MOLECULAR GENETICS (2009)
Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations
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The molecular functions of Shp2 in the Ras/Mitogen-activated protein kinase (ERK1/2) pathway
Marie Dance et al.
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Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal -: Regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways
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Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects
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Deletion of Shp2 in the brain leads to defective proliferation and differentiation in neural stem cells and early postnatal lethality
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Animal models of human disease: zebrafish swim into view
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Concerted functions of Gab1 and Shp2 in liver regeneration and hepatoprotection
Emilie A. Bard-Chapeau et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: Consequences for PI3K binding on Gab1
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PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects
MI Kontaridis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
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An Shp2/SFK/Ras/Erk signaling pathway controls trophoblast stem cell survival
WT Yang et al.
DEVELOPMENTAL CELL (2006)
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
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HUMAN MOLECULAR GENETICS (2006)
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
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AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Diverse biochemical properties of Shp2 mutants
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JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Major events in the genome evolution of vertebrates: Paranome age and size differ considerably between ray-finned fishes and land vertebrates
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation
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NATURE MEDICINE (2004)
Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype
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NATURE (2004)
Adult height in Noonan syndrome
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
BG Neel et al.
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Efficient target-selected mutagenesis in zebrafish
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Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
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AMERICAN JOURNAL OF HUMAN GENETICS (2002)
PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
M Tartaglia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
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Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
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