Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

PubWeight™: 1.21‹?› | Rank: Top 10%

🔗 View Article (PMID 21041952)

Published in J Clin Invest on December 01, 2010

Authors

Peng-Chieh Chen1, Hiroko Wakimoto, David Conner, Toshiyuki Araki, Tao Yuan, Amy Roberts, Christine E Seidman, Roderick Bronson, Benjamin G Neel, Jonathan G Seidman, Raju Kucherlapati

Author Affiliations

1: Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

Articles citing this

The RASopathies. Annu Rev Genomics Hum Genet (2013) 2.06

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest (2011) 1.84

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78

Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. J Mol Cell Cardiol (2011) 1.55

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. J Clin Invest (2011) 1.39

Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A (2014) 1.17

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet (2014) 1.15

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat (2011) 1.12

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. Am J Med Genet C Semin Med Genet (2011) 1.10

Recent advances in RASopathies. J Hum Genet (2015) 1.05

Approach for targeting Ras with small molecules that activate SOS-mediated nucleotide exchange. Proc Natl Acad Sci U S A (2014) 1.04

Mammalian son of sevenless Guanine nucleotide exchange factors: old concepts and new perspectives. Genes Cancer (2011) 1.04

PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? Trends Cardiovasc Med (2011) 1.00

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

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. Dis Model Mech (2012) 0.96

Regulation of ras exchange factors and cellular localization of ras activation by lipid messengers in T cells. Front Immunol (2013) 0.95

RSK phosphorylates SOS1 creating 14-3-3-docking sites and negatively regulating MAPK activation. Biochem J (2012) 0.91

Signaling to cardiac hypertrophy: insights from human and mouse RASopathies. Mol Med (2012) 0.88

Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. Mol Cell Biol (2012) 0.87

RASopathies: unraveling mechanisms with animal models. Dis Model Mech (2015) 0.84

Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol (2015) 0.82

K-RasV14I recapitulates Noonan syndrome in mice. Proc Natl Acad Sci U S A (2014) 0.81

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. Hum Mol Genet (2013) 0.81

Low-dose dasatinib rescues cardiac function in Noonan syndrome. JCI Insight (2016) 0.80

The molecular basis of cognitive deficits in pervasive developmental disorders. Learn Mem (2012) 0.77

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. Birth Defects Res (2017) 0.75

Expansion of the RASopathies. Curr Genet Med Rep (2016) 0.75

The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare Dis (2015) 0.75

Sos1 disruption impairs cellular proliferation and viability through an increase in mitochondrial oxidative stress in primary MEFs. Oncogene (2016) 0.75

Articles cited by this

The selectivity of protein kinase inhibitors: a further update. Biochem J (2007) 15.73

The STATs of cancer--new molecular targets come of age. Nat Rev Cancer (2004) 13.07

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage. Proc Natl Acad Sci U S A (1996) 12.92

GEF means go: turning on RHO GTPases with guanine nucleotide-exchange factors. Nat Rev Mol Cell Biol (2005) 10.44

Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer (2007) 10.27

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96

Targeting the mitogen-activated protein kinase cascade to treat cancer. Nat Rev Cancer (2004) 6.07

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev (2009) 5.53

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68

Germline KRAS mutations cause Noonan syndrome. Nat Genet (2006) 4.48

Ras and Rho GTPases: a family reunion. Cell (2000) 4.21

Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet (2006) 3.81

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med (2004) 3.55

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47

Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos. Science (1998) 3.17

Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet (2007) 3.08

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57

Direct stimulation of Jak/STAT pathway by the angiotensin II AT1 receptor. Nature (1995) 2.33

Requirement of Rac1 in the development of cardiac hypertrophy. Proc Natl Acad Sci U S A (2006) 2.02

MAPK signalling in cardiovascular health and disease: molecular mechanisms and therapeutic targets. Clin Sci (Lond) (2008) 1.95

Recent progress in targeting the Raf/MEK/ERK pathway with inhibitors in cancer drug discovery. Curr Opin Pharmacol (2005) 1.79

Regulation of STAT3 by direct binding to the Rac1 GTPase. Science (2000) 1.77

A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71

Molecular targets and regulators of cardiac hypertrophy. Pharmacol Res (2009) 1.71

Mechanisms through which Sos-1 coordinates the activation of Ras and Rac. J Cell Biol (2002) 1.60

Altered focal adhesion regulation correlates with cardiomyopathy in mice expressing constitutively active rac1. J Clin Invest (2000) 1.58

Signaling from Ras to Rac and beyond: not just a matter of GEFs. EMBO J (2000) 1.49

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J Clin Invest (2007) 1.48

Rac1 mediates STAT3 activation by autocrine IL-6. Proc Natl Acad Sci U S A (2001) 1.46

Recent advances of MEK inhibitors and their clinical progress. Curr Top Med Chem (2007) 1.39

Cardiac hypertrophy: targeting Raf/MEK/ERK1/2-signaling. Int J Biochem Cell Biol (2009) 1.39

The subcellular localization of MEK and ERK--a novel nuclear translocation signal (NTS) paves a way to the nucleus. Mol Cell Endocrinol (2009) 1.37

Role of angiotensin II in activation of the JAK/STAT pathway induced by acute pressure overload in the rat heart. Circ Res (1997) 1.32

Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol (2000) 1.30

Histology atlas of the developing mouse heart with emphasis on E11.5 to E18.5. Toxicol Pathol (2009) 1.27

A requirement for the rac1 GTPase in the signal transduction pathway leading to cardiac myocyte hypertrophy. J Clin Invest (1998) 1.27

Survival pathways in hypertrophy and heart failure: the gp130-STAT3 axis. Basic Res Cardiol (2007) 1.26

Rac regulates cardiovascular superoxide through diverse molecular interactions: more than a binary GTP switch. Am J Physiol Cell Physiol (2003) 1.25

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. Proc Natl Acad Sci U S A (2009) 1.25

Extracellular signal-regulated kinase 1/2 (ERK1/2) signaling in cardiac hypertrophy. Ann N Y Acad Sci (2010) 1.23

The two hats of SOS. Sci STKE (2002) 1.22

Rho family GTPases are required for activation of Jak/STAT signaling by G protein-coupled receptors. Mol Cell Biol (2003) 1.22

Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. Proc Natl Acad Sci U S A (2008) 1.21

Small guanine nucleotide-binding proteins and myocardial hypertrophy. Circ Res (2000) 1.18

Noonan syndrome. Am J Med Genet C Semin Med Genet (2007) 1.17

Interplay between the cardiac renin angiotensin system and JAK-STAT signaling: role in cardiac hypertrophy, ischemia/reperfusion dysfunction, and heart failure. J Mol Cell Cardiol (2002) 1.15

Angiotensin II activates signal transducer and activators of transcription 3 via Rac1 in atrial myocytes and fibroblasts: implication for the therapeutic effect of statin in atrial structural remodeling. Circulation (2008) 1.15

Killing time for cancer cells. Nat Rev Cancer (2005) 1.08

Body surface area prediction in normal, hypermuscular, and obese mice. J Surg Res (2008) 1.07

Malignant diseases in Noonan syndrome and related disorders. Horm Res (2009) 1.07

Anticancer drug targets: growth factors and growth factor signaling. J Clin Invest (2000) 1.02

Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc Natl Acad Sci U S A (2009) 1.01

The small GTP-binding protein Rac1 induces cardiac myocyte hypertrophy through the activation of apoptosis signal-regulating kinase 1 and nuclear factor-kappa B. J Biol Chem (2003) 0.99

Gene trap and gene inversion methods for conditional gene inactivation in the mouse. Nucleic Acids Res (2005) 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

Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. Proc Natl Acad Sci U S A (2009) 0.94

Biphasic activation of the JAK/STAT pathway by angiotensin II in rat cardiomyocytes. Circ Res (1998) 0.94

GEFs in growth factor signaling. Growth Factors (2007) 0.92

Fluvastatin enhances the inhibitory effects of a selective angiotensin II type 1 receptor blocker, valsartan, on vascular neointimal formation. Circulation (2003) 0.91

The role of Jak/STAT signaling in heart tissue renin-angiotensin system. Mol Cell Biochem (2000) 0.87

Activated Rac1 requires gp130 for Stat3 activation, cell proliferation and migration. Exp Cell Res (2009) 0.84

Targeting MEK is effective chemoprevention of hepatocellular carcinoma in TGF-alpha-transgenic mice. J Gastrointest Surg (2007) 0.84

A unifying hypothesis for the renin-angiotensin system and hematopoiesis: sticking the pieces together with the JAK-STAT pathway. Med Hypotheses (2000) 0.80

Cross-talk between angiotensin II and interleukin-6-induced signaling through Stat3 transcription factor. Basic Res Cardiol (1998) 0.76

Articles by these authors

Integrated genomic characterization of endometrial carcinoma. Nature (2013) 14.29

Projection of an immunological self shadow within the thymus by the aire protein. Science (2002) 12.15

The somatic genomic landscape of glioblastoma. Cell (2013) 11.73

Developmental defects and p53 hyperacetylation in Sir2 homolog (SIRT1)-deficient mice. Proc Natl Acad Sci U S A (2003) 9.14

Genomic instability and aging-like phenotype in the absence of mammalian SIRT6. Cell (2006) 8.48

Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics (2005) 6.44

Telomere dysfunction induces metabolic and mitochondrial compromise. Nature (2011) 6.36

The differential effects of mutant p53 alleles on advanced murine lung cancer. Cancer Res (2005) 5.93

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med (2015) 5.71

De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15

Colorectal cancer in mice genetically deficient in the mucin Muc2. Science (2002) 5.08

Landscape of somatic retrotransposition in human cancers. Science (2012) 4.37

Tumor predisposition in mice mutant for p63 and p73: evidence for broader tumor suppressor functions for the p53 family. Cancer Cell (2005) 4.14

Lung cancer signatures in plasma based on proteome profiling of mouse tumor models. Cancer Cell (2011) 3.88

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86

Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet (2006) 3.81

Genomic analysis reveals that Pseudomonas aeruginosa virulence is combinatorial. Genome Biol (2006) 3.75

Herpes simplex virus 1 interaction with Toll-like receptor 2 contributes to lethal encephalitis. Proc Natl Acad Sci U S A (2004) 3.74

High tumor incidence and activation of the PI3K/AKT pathway in transgenic mice define AIB1 as an oncogene. Cancer Cell (2004) 3.46

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med (2016) 3.40

Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins. Mol Ther (2011) 3.10

Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature (2002) 3.05

Stage-specific sensitivity to p53 restoration during lung cancer progression. Nature (2010) 3.03

Lack of physician concordance with guidelines on the perioperative use of beta-blockers. Arch Intern Med (2004) 2.97

Shp2 regulates SRC family kinase activity and Ras/Erk activation by controlling Csk recruitment. Mol Cell (2004) 2.82

Divergent regulation of hepatic glucose and lipid metabolism by phosphoinositide 3-kinase via Akt and PKClambda/zeta. Cell Metab (2006) 2.82

Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci U S A (2007) 2.81

Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A (2011) 2.72

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods (2009) 2.71

(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat Struct Mol Biol (2005) 2.71

Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res (2005) 2.67

Genomic characterization of non-O1, non-O139 Vibrio cholerae reveals genes for a type III secretion system. Proc Natl Acad Sci U S A (2005) 2.65

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. J Clin Invest (2010) 2.64

Differential gene expression following early renal ischemia/reperfusion. Kidney Int (2003) 2.60

Cardiac myosin binding protein C phosphorylation is cardioprotective. Proc Natl Acad Sci U S A (2006) 2.46

Hierarchical model of gene regulation by transforming growth factor beta. Proc Natl Acad Sci U S A (2003) 2.37

Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. Proc Natl Acad Sci U S A (2005) 2.29

Loss of Pin1 function in the mouse causes phenotypes resembling cyclin D1-null phenotypes. Proc Natl Acad Sci U S A (2002) 2.28

Role of the prolyl isomerase Pin1 in protecting against age-dependent neurodegeneration. Nature (2003) 2.28

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res (2006) 2.26

Development of a mouse model for sporadic and metastatic colon tumors and its use in assessing drug treatment. Proc Natl Acad Sci U S A (2010) 2.20

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol (2007) 2.18

Haploinsufficiency of Flap endonuclease (Fen1) leads to rapid tumor progression. Proc Natl Acad Sci U S A (2002) 2.17

Initiating oncogenic event determines gene-expression patterns of human breast cancer models. Proc Natl Acad Sci U S A (2002) 2.15

TCR-inducible PLZF transcription factor required for innate phenotype of a subset of gammadelta T cells with restricted TCR diversity. Proc Natl Acad Sci U S A (2009) 2.13

Barcoding bias in high-throughput multiplex sequencing of miRNA. Genome Res (2011) 2.12

Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med (2008) 2.12

In vivo wide-area cellular imaging by side-view endomicroscopy. Nat Methods (2010) 2.10

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. EMBO J (2008) 2.08

Modifier loci condition autoimmunity provoked by Aire deficiency. J Exp Med (2005) 2.08

Inhibition of SHP2 ameliorates the pathogenesis of systemic lupus erythematosus. J Clin Invest (2016) 2.06

Polycomb repressive complex 2 regulates normal development of the mouse heart. Circ Res (2011) 2.05

Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2. Proc Natl Acad Sci U S A (2002) 2.04

Receptor-specific regulation of phosphatidylinositol 3'-kinase activation by the protein tyrosine phosphatase Shp2. Mol Cell Biol (2002) 2.03

A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism. Science (2009) 2.02

Diverse mechanisms of somatic structural variations in human cancer genomes. Cell (2013) 2.00

WAVE2 deficiency reveals distinct roles in embryogenesis and Rac-mediated actin-based motility. EMBO J (2003) 1.98

Metastatic osteosarcoma induced by inactivation of Rb and p53 in the osteoblast lineage. Proc Natl Acad Sci U S A (2008) 1.98

Prevention of type 1 diabetes in mice by tolerogenic vaccination with a strong agonist insulin mimetope. J Exp Med (2011) 1.94

Prdx1 inhibits tumorigenesis via regulating PTEN/AKT activity. EMBO J (2009) 1.94

An inflammatory checkpoint regulates recruitment of graft-versus-host reactive T cells to peripheral tissues. J Exp Med (2006) 1.94

APC-dependent suppression of colon carcinogenesis by PPARgamma. Proc Natl Acad Sci U S A (2002) 1.89

Endogenous T cell responses to antigens expressed in lung adenocarcinomas delay malignant tumor progression. Cancer Cell (2011) 1.89

Stimulation of nicotinamide adenine dinucleotide biosynthetic pathways delays axonal degeneration after axotomy. J Neurosci (2006) 1.89

Artemin is a vascular-derived neurotropic factor for developing sympathetic neurons. Neuron (2002) 1.88

TAZ promotes PC2 degradation through a SCFbeta-Trcp E3 ligase complex. Mol Cell Biol (2007) 1.86

Adenomatous polyposis coli (APC) is required for normal development of skin and thymus. PLoS Genet (2006) 1.86

Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. Anesthesiology (2009) 1.85

Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice. Nat Genet (2005) 1.84

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest (2011) 1.84

An Shp2/SFK/Ras/Erk signaling pathway controls trophoblast stem cell survival. Dev Cell (2006) 1.84

Deletion of Smad2 in mouse liver reveals novel functions in hepatocyte growth and differentiation. Mol Cell Biol (2006) 1.82

An Msh2 point mutation uncouples DNA mismatch repair and apoptosis. Cancer Res (2004) 1.81

Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility. Cancer Cell (2004) 1.81

Heart block, ventricular tachycardia, and sudden death in ACE2 transgenic mice with downregulated connexins. J Mol Cell Cardiol (2003) 1.81

Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest (2004) 1.80

The Notch coactivator, MAML1, functions as a novel coactivator for MEF2C-mediated transcription and is required for normal myogenesis. Genes Dev (2006) 1.79

Nicotinamide mononucleotide adenylyltransferase expression in mitochondrial matrix delays Wallerian degeneration. J Neurosci (2009) 1.78

Interleukin-15/interleukin-15R alpha complexes promote destruction of established tumors by reviving tumor-resident CD8+ T cells. Cancer Res (2008) 1.77

Response to treatment and survival of patients with non-small cell lung cancer undergoing somatic EGFR mutation testing. Oncologist (2007) 1.75

Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science (2013) 1.75

Copy number variation plays an important role in clinical epilepsy. Ann Neurol (2014) 1.73

Donor lymphocyte infusions mediate superior graft-versus-leukemia effects in mixed compared to fully allogeneic chimeras: a critical role for host antigen-presenting cells. Blood (2002) 1.68

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68

Nkx2.5 homeoprotein regulates expression of gap junction protein connexin 43 and sarcomere organization in postnatal cardiomyocytes. J Mol Cell Cardiol (2003) 1.67

Microarray-based copy number and expression profiling in dedifferentiated and pleomorphic liposarcoma. Cancer Res (2002) 1.64

Spectrum of somatic mitochondrial mutations in five cancers. Proc Natl Acad Sci U S A (2012) 1.63

Defective apoptosis and B-cell lymphomas in mice with p53 point mutation at Ser 23. EMBO J (2004) 1.63

Genetic variation in DTNBP1 influences general cognitive ability. Hum Mol Genet (2006) 1.61

Synergy between PPARgamma ligands and platinum-based drugs in cancer. Cancer Cell (2007) 1.60

Common and distinct genomic events in sporadic colorectal cancer and diverse cancer types. Cancer Res (2007) 1.60

Onset of abnormal blood and lymphatic vessel function and interstitial hypertension in early stages of carcinogenesis. Cancer Res (2006) 1.60

The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system. Development (2004) 1.59

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood. Development (2009) 1.59

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis (2008) 1.58

The mouse as a model for understanding chronic diseases of aging: the histopathologic basis of aging in inbred mice. Pathobiol Aging Age Relat Dis (2011) 1.56

PAK4 kinase is essential for embryonic viability and for proper neuronal development. Mol Cell Biol (2003) 1.55