Published in Hum Mutat on March 01, 2004
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet (2005) 2.75
Heart valve development: regulatory networks in development and disease. Circ Res (2009) 2.41
Inhibition of SHP2 ameliorates the pathogenesis of systemic lupus erythematosus. J Clin Invest (2016) 2.06
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest (2011) 1.84
Mitogen-activated protein kinases in heart development and diseases. Circulation (2007) 1.84
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78
Tumor suppressor density-enhanced phosphatase-1 (DEP-1) inhibits the RAS pathway by direct dephosphorylation of ERK1/2 kinases. J Biol Chem (2009) 1.66
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. Nat Neurosci (2014) 1.63
Role of SHP2 phosphatase in KIT-induced transformation: identification of SHP2 as a druggable target in diseases involving oncogenic KIT. Blood (2012) 1.63
Function, regulation and pathological roles of the Gab/DOS docking proteins. Cell Commun Signal (2009) 1.59
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum Mol Genet (2008) 1.50
Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome. Neuron (2007) 1.47
Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells. J Exp Med (2011) 1.37
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. Dev Cell (2010) 1.22
Functions and mechanisms of receptor tyrosine kinase Torso signaling: lessons from Drosophila embryonic terminal development. Dev Dyn (2005) 1.21
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. Circulation (2008) 1.20
The neural crest in cardiac congenital anomalies. Differentiation (2012) 1.17
Leukemia-associated, constitutively active mutants of SHP2 protein tyrosine phosphatase inhibit NF1 transcriptional activation by the interferon consensus sequence binding protein. Mol Cell Biol (2006) 1.07
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. Circ Res (2005) 1.06
MEK genomics in development and disease. Brief Funct Genomics (2012) 1.04
Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations. Dis Model Mech (2010) 1.04
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. Eur J Pediatr (2005) 1.03
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. Mol Cell Biol (2010) 1.02
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. Proc Natl Acad Sci U S A (2012) 0.98
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. J Biol Chem (2013) 0.97
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. J Biol Chem (2009) 0.96
RAS diseases in children. Haematologica (2014) 0.95
Construction and validation of a Bovine Innate Immune Microarray. BMC Genomics (2005) 0.95
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. J Biol Chem (2008) 0.93
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. J Biol Chem (2008) 0.93
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet (2004) 0.92
HER2 stabilizes EGFR and itself by altering autophosphorylation patterns in a manner that overcomes regulatory mechanisms and promotes proliferative and transformation signaling. Oncogene (2012) 0.91
Targeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction. J Mol Cell Cardiol (2014) 0.89
Novel SHP-1 inhibitors tyrosine phosphatase inhibitor-1 and analogs with preclinical anti-tumor activities as tolerated oral agents. J Immunol (2010) 0.89
Distinct involvement of the Gab1 and Grb2 adaptor proteins in signal transduction by the related receptor tyrosine kinases RON and MET. J Biol Chem (2011) 0.88
Functions of Shp2 in cancer. J Cell Mol Med (2015) 0.88
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). BMC Struct Biol (2014) 0.86
SHP-2 expression negatively regulates NK cell function. J Immunol (2009) 0.85
SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton. Development (2012) 0.84
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. Biochemistry (2014) 0.84
SHP-2 tyrosine phosphatase in human diseases. Int J Clin Exp Med (2009) 0.84
Molecular targets for the treatment of juvenile myelomonocytic leukemia. Adv Hematol (2011) 0.83
Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice. Dis Model Mech (2013) 0.83
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development. Am J Med Genet A (2012) 0.82
SHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1. J Biol Chem (2014) 0.82
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Am J Med Genet A (2014) 0.82
Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol (2015) 0.82
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell Rep (2015) 0.81
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. J Biol Chem (2013) 0.81
Shp2 SUMOylation promotes ERK activation and hepatocellular carcinoma development. Oncotarget (2015) 0.81
Gain-of-function mutations of Ptpn11 (Shp2) cause aberrant mitosis and increase susceptibility to DNA damage-induced malignancies. Proc Natl Acad Sci U S A (2016) 0.80
Induction of a tumor-associated activating mutation in protein tyrosine phosphatase Ptpn11 (Shp2) enhances mitochondrial metabolism, leading to oxidative stress and senescence. J Biol Chem (2013) 0.80
SH2 Domain-containing Phosphatase-SHP-2 is a Novel Anti-fibrotic Regulator in Pulmonary Fibrosis. Am J Respir Crit Care Med (2016) 0.79
Signaling perturbations induced by invading H. pylori proteins in the host epithelial cells: a mathematical modeling approach. J Theor Biol (2007) 0.79
Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder. PLoS One (2013) 0.78
A tyrosine phosphatase SHP2 gain-of-function mutation enhances malignancy of breast carcinoma. Oncotarget (2016) 0.77
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. J Biol Chem (2012) 0.77
Constitutive activation of SHP2 protein tyrosine phosphatase inhibits ICSBP-induced transcription of the gene encoding gp91PHOX during myeloid differentiation. J Leukoc Biol (2007) 0.76
The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration. J Appl Physiol (1985) (2014) 0.76
Connecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac function. Birth Defects Res C Embryo Today (2014) 0.76
Nf1 mutant mice with p19ARF gene loss develop accelerated hematopoietic disease resembling acute leukemia with a variable phenotype. Am J Hematol (2011) 0.75
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. Rare Dis (2013) 0.75
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. J Clin Invest (2016) 0.75
The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat Biotechnol (2006) 30.90
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature (2010) 4.38
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
VisANT: data-integrating visual framework for biological networks and modules. Nucleic Acids Res (2005) 3.24
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J Exp Med (2008) 3.24
Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet (2005) 3.02
VisANT: an online visualization and analysis tool for biological interaction data. BMC Bioinformatics (2004) 2.88
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet (2005) 2.75
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2010) 2.56
The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies. BMC Bioinformatics (2008) 2.54
The lncRNA Malat1 is dispensable for mouse development but its transcription plays a cis-regulatory role in the adult. Cell Rep (2012) 2.45
Association of leukocyte telomere length with breast cancer risk: nested case-control findings from the Shanghai Women's Health Study. Am J Epidemiol (2013) 2.34
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet (2006) 2.31
Loss of Bif-1 suppresses Bax/Bak conformational change and mitochondrial apoptosis. Mol Cell Biol (2005) 2.31
Towards zoomable multidimensional maps of the cell. Nat Biotechnol (2007) 2.20
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood (2004) 2.19
The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell (2009) 2.19
Noonan syndrome. Lancet (2013) 2.13
Hierarchical organization in the hemostatic response and its relationship to the platelet-signaling network. Blood (2013) 2.05
Discovery of a novel shp2 protein tyrosine phosphatase inhibitor. Mol Pharmacol (2006) 1.98
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96
Potent inhibition of platelet-derived growth factor-induced responses in vascular smooth muscle cells by BMS-354825 (dasatinib). Mol Pharmacol (2006) 1.95
Genetics of congenital heart disease: the glass half empty. Circ Res (2013) 1.90
Regulated surface expression and shedding support a dual role for semaphorin 4D in platelet responses to vascular injury. Proc Natl Acad Sci U S A (2007) 1.83
Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab (2011) 1.82
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood (2005) 1.80
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Effect of atorvastatin on SR-BI expression and HDL-induced cholesterol efflux in adipocytes of hypercholesterolemic rabbits. Clin Chim Acta (2005) 1.71
Systemic spread and propagation of a plant-pathogenic virus in European honeybees, Apis mellifera. MBio (2014) 1.71
Roles of Gab1 and SHP2 in paxillin tyrosine dephosphorylation and Src activation in response to epidermal growth factor. J Biol Chem (2003) 1.68
Deficiency and inhibition of cathepsin K reduce body weight gain and increase glucose metabolism in mice. Arterioscler Thromb Vasc Biol (2008) 1.64
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Perilipin 5 improves hepatic lipotoxicity by inhibiting lipolysis. Hepatology (2015) 1.55
Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. J Mol Cell Cardiol (2011) 1.55
Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling. Cell Stem Cell (2012) 1.54
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci (2010) 1.54
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab (2004) 1.53
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet (2005) 1.53
Parents and clinicians underestimate distress and depression in children who had a transplant. Pediatr Transplant (2005) 1.50
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum Mol Genet (2008) 1.50
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49
Functional rundown of gamma-aminobutyric acid(A) receptors in human hypothalamic hamartomas. Ann Neurol (2011) 1.48
Problematic Internet Use in high school students in Guangdong Province, China. PLoS One (2011) 1.47
Regulation of the mitogen-activated protein kinase signaling pathway by SHP2. J Biol Chem (2002) 1.47
Cross-priming amplification for rapid detection of Mycobacterium tuberculosis in sputum specimens. J Clin Microbiol (2008) 1.47
The phosphorylation of EphB2 receptor regulates migration and invasion of human glioma cells. Cancer Res (2004) 1.42
Hydroxamic acid analogue histone deacetylase inhibitors attenuate estrogen receptor-alpha levels and transcriptional activity: a result of hyperacetylation and inhibition of chaperone function of heat shock protein 90. Clin Cancer Res (2007) 1.42
3D coordination framework with uncommon two-fold interpenetrated {3(3)5(9)6(3)}-lcy net and coordinated anion exchange. Chemistry (2009) 1.40
Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate. J Biol Chem (2002) 1.40
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest (2011) 1.39
Marfan's syndrome and related disorders--more tightly connected than we thought. N Engl J Med (2006) 1.38
Inhibition of Bcr-Abl kinase activity by PD180970 blocks constitutive activation of Stat5 and growth of CML cells. Oncogene (2002) 1.38
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. Genes Chromosomes Cancer (2009) 1.36
Combined effects of novel tyrosine kinase inhibitor AMN107 and histone deacetylase inhibitor LBH589 against Bcr-Abl-expressing human leukemia cells. Blood (2006) 1.36
Impact of cigarette smoking in type 2 diabetes development. Acta Pharmacol Sin (2009) 1.34
A novel nicotinic acetylcholine receptor subtype in basal forebrain cholinergic neurons with high sensitivity to amyloid peptides. J Neurosci (2009) 1.33
Identification of a signalling molecule involved in bacterial intergeneric communication. Microbiology (2007) 1.32
Prediction of estrogen receptor binding for 58,000 chemicals using an integrated system of a tree-based model with structural alerts. Environ Health Perspect (2002) 1.31
Flow shear stress stimulates Gab1 tyrosine phosphorylation to mediate protein kinase B and endothelial nitric-oxide synthase activation in endothelial cells. J Biol Chem (2005) 1.31
Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass. J Bone Miner Res (2006) 1.28
Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet (2005) 1.27
Hypermethylation of homeobox A10 by in utero diethylstilbestrol exposure: an epigenetic mechanism for altered developmental programming. Endocrinology (2009) 1.25
Chemical ablation of androgen receptor in prostate cancer cells by the histone deacetylase inhibitor LAQ824. Mol Cancer Ther (2005) 1.24
Comparative assessment of performance and genome dependence among phylogenetic profiling methods. BMC Bioinformatics (2006) 1.22
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet (2009) 1.22
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab (2006) 1.21
Why do pathological stage IA lung adenocarcinomas vary from prognosis?: a clinicopathologic study of 176 patients with pathological stage IA lung adenocarcinoma based on the IASLC/ATS/ERS classification. J Thorac Oncol (2013) 1.21
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A (2005) 1.19
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19
Correction of aberrant imprinting of IGF2 in human tumors by nuclear transfer-induced epigenetic reprogramming. EMBO J (2006) 1.19
Mechanistic role of heat shock protein 70 in Bcr-Abl-mediated resistance to apoptosis in human acute leukemia cells. Blood (2004) 1.18
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Mol Genet (2002) 1.18
Signaling through Gi family members in platelets. Redundancy and specificity in the regulation of adenylyl cyclase and other effectors. J Biol Chem (2002) 1.17
Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J Hum Genet (2009) 1.17
Porphyromonas gingivalis minor fimbriae are required for cell-cell interactions. Infect Immun (2006) 1.17