PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

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PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1074/JBC.M513068200
P3181OpenCitations bibliographic resource ID2306517
P698PubMed publication ID16377799
P5875ResearchGate publication ID7393137

P2093author name stringBenjamin G Neel
Kenneth D Swanson
David Barford
Frank S David
Maria I Kontaridis
P2860cites workMutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeQ24291893
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneQ24299557
Structural basis for phosphotyrosine peptide recognition by protein tyrosine phosphatase 1BQ27729426
Crystal structure of human protein tyrosine phosphatase 1BQ27731235
Visualization of the cysteinyl-phosphate intermediate of a protein-tyrosine phosphatase by x-ray crystallographyQ27749490
Cell migration: integrating signals from front to backQ27860670
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signalingQ28182148
Multiple Lentigenes SyndromeQ28255802
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemiaQ28298677
Nf1 has an essential role in endothelial cellsQ28507662
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutationQ28594140
Heart valve development: endothelial cell signaling and differentiationQ33607338
Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2.Q33886525
Molecular mechanism for the Shp-2 tyrosine phosphatase function in promoting growth factor stimulation of Erk activityQ33962208
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.Q34421680
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.Q34547539
Noonan syndrome and related disorders: genetics and pathogenesisQ34560418
Defective valvulogenesis in HB-EGF and TACE-null mice is associated with aberrant BMP signalingQ35032897
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experienceQ35444224
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factorQ35847470
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemiaQ36100102
Receptor-specific regulation of phosphatidylinositol 3'-kinase activation by the protein tyrosine phosphatase Shp2.Q39674852
Multiple requirements for SHPTP2 in epidermal growth factor-mediated cell cycle progressionQ40018398
SHP-2 positively regulates myogenesis by coupling to the Rho GTPase signaling pathwayQ40550696
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationQ40587895
The protein tyrosine phosphatase Shp-2 regulates RhoA activityQ40837843
Form and function in protein dephosphorylationQ41193500
Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2.Q41743522
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypesQ42480603
PTPN11 mutations in LEOPARD syndromeQ43056955
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemiaQ44419404
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesisQ44673842
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaQ44775999
Noonan syndrome: the changing phenotypeQ49195666
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectLEOPARD syndromeQ1798016
P304page(s)6785-92
P577publication date2006-03-10
P1433published inJournal of Biological ChemistryQ867727
P1476titlePTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects
P478volume281

Reverse relations

cites work (P2860)
Q37732680A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.
Q24302232A Novel SHOC2 Variant in Rasopathy
Q54348023A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
Q50301379A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
Q34310556A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells
Q53155404A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Q34722748Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder
Q36929566Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection
Q36702801An unexpected new role of mutant Ras: perturbation of human embryonic development
Q57455562Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Q42910760Biochemical and functional characterization of germ line KRAS mutations
Q36057294Cardiomyopathies in Noonan syndrome and the other RASopathies
Q42786875Cell biology: tumour stem cells in bone
Q61798041Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort
Q49887410Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures
Q90092671Connecting the dots between SHP2 and glutamate receptors
Q41843881Counteracting 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
Q38605378Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways
Q37287463Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice
Q37033644Deletion of Shp2 tyrosine phosphatase in muscle leads to dilated cardiomyopathy, insulin resistance, and premature death
Q34611774Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations
Q37137867Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines
Q48523025Dietary quercetin potentiates the antiproliferative effect of interferon-α in hepatocellular carcinoma cells through activation of JAK/STAT pathway signaling by inhibition of SHP2 phosphatase
Q42131816Diminished functional role and altered localization of SHP2 in non-small cell lung cancer cells with EGFR-activating mutations
Q34440570Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
Q37705054Distinct and overlapping functions of ptpn11 genes in Zebrafish development
Q33979110Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
Q37028299Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas
Q52537178Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
Q46578462Feedback regulation of RTK signaling in development.
Q21245511Function, regulation and pathological roles of the Gab/DOS docking proteins
Q24304242Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling
Q37417271Future perspectives in melanoma research : Meeting report from the "Melanoma Bridge". Napoli, December 1st-4th 2015.
Q43200145Gab docking proteins in cardiovascular disease, cancer, and inflammation
Q27865193Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Q52646137Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.
Q90669133Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Q36925323Genetic approaches for changing the heart and dissecting complex syndromes
Q28276979Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Q24293473Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
Q36648071Hematopoietic colony formation from human growth factor-dependent TF1 cells and human cord blood myeloid progenitor cells depends on SHP2 phosphatase function
Q29616397Hyperactive Ras in developmental disorders and cancer
Q30498183Identification of PTPsigma as an autophagic phosphatase.
Q37150984Induction of a tumor-associated activating mutation in protein tyrosine phosphatase Ptpn11 (Shp2) enhances mitochondrial metabolism, leading to oxidative stress and senescence
Q36951816Inhibition of SHP2 ameliorates the pathogenesis of systemic lupus erythematosus.
Q54592678Is Raf1 a nexus for cardiac hypertrophic signaling in human disease?
Q41880278LEOPARD Syndrome: Clinical Features and Gene Mutations
Q34409247LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity
Q39497765LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling
Q36594223Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex
Q21202917Leopard syndrome
Q54228579Leopard syndrome: a report of five cases from one family in two generations.
Q30475729Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome
Q34853182MAP3Ks as central regulators of cell fate during development
Q36099005MEK genomics in development and disease
Q34627221MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation
Q36745371MKK signaling and vascularization.
Q55044850Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation.
Q35879519Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome
Q39031139Modeling RASopathies with Genetically Modified Mouse Models.
Q37143372Modeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes
Q48510407Modifier variant of METTL13 suppresses human GAB1-associated profound deafness
Q27684353Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations
Q85544412Molecular mechanism of SHP2 activation by PD-1 stimulation
Q37418909Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Q28508306Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development
Q92861949Negative regulators of STAT3 signaling pathway in cancers
Q39419046New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling
Q34025431Next-generation sequencing identifies rare variants associated with Noonan syndrome
Q35944775Nf1 limits epicardial derivative expansion by regulating epithelial to mesenchymal transition and proliferation
Q35237519Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells
Q34678373Noonan syndrome and clinically related disorders
Q33806161Noonan syndrome: clinical aspects and molecular pathogenesis
Q38406894PP6C hotspot mutations in melanoma display sensitivity to Aurora kinase inhibition.
Q35616065PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase
Q36025665PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
Q34056454PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice
Q33910479Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
Q91660445Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations
Q37102143Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
Q42591567Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis
Q28542750Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome
Q38901348Phosphorylation of eIF2α triggered by mTORC1 inhibition and PP6C activation is required for autophagy and is aberrant in PP6C-mutated melanoma
Q35583091Protein Kinase A (PKA) Phosphorylation of Shp2 Protein Inhibits Its Phosphatase Activity and Modulates Ligand Specificity
Q35101627Protein Tyrosine Phosphatase SHP-2 (PTPN11) in Hematopoiesis and Leukemogenesis
Q58749617Protein Tyrosine Phosphatases as Potential Regulators of STAT3 Signaling
Q30525672Protein tyrosine phosphatase Shp2 (Ptpn11) plays an important role in maintenance of chromosome stability
Q37257055Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development
Q49356041Protein tyrosine phosphatases in cardiac physiology and pathophysiology
Q29614826Protein tyrosine phosphatases: from genes, to function, to disease
Q42157466RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.
Q34627120Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.
Q53809069Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Q34582831Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
Q34202697Ras in cancer and developmental diseases
Q38068387Ras/MAPK syndromes and childhood hemato-oncological diseases
Q41916478Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization
Q38601758Recent advances in RASopathies
Q24321087Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1
Q26752880Regulation of mitochondrial functions by protein phosphorylation and dephosphorylation
Q48103763Regulatory Mechanisms and Novel Therapeutic Targeting Strategies for Protein Tyrosine Phosphatases.
Q37701953SHP-2 deletion in postmigratory neural crest cells results in impaired cardiac sympathetic innervation
Q28512136SHP-2 is a novel target of Abl kinases during cell proliferation
Q37186707SHP-2 tyrosine phosphatase in human diseases.
Q99565940SHP2 promotes proliferation of breast cancer cells through regulating Cyclin D1 stability via the PI3K/AKT/GSK3β signaling pathway
Q79456661Sending out an SOS
Q37631584Shp2 Inhibits Proliferation of Esophageal Squamous Cell Cancer via Dephosphorylation of Stat3
Q35825659Shp2 function in hematopoietic stem cell biology and leukemogenesis
Q27314678Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects
Q36637373Shp2 plays a crucial role in cell structural orientation and force polarity in response to matrix rigidity
Q34433715Shp2 suppresses PyMT-induced transformation in mouse fibroblasts by inhibiting Stat3 activity
Q49167741Shp2-Mitogen-Activated Protein Kinase Signaling Drives Proliferation during Zebrafish Embryo Caudal Fin Fold Regeneration
Q38009216Signaling to cardiac hypertrophy: insights from human and mouse RASopathies.
Q41973102Sprouty-related Ena/vasodilator-stimulated phosphoprotein homology 1-domain-containing protein (SPRED1), a tyrosine-protein phosphatase non-receptor type 11 (SHP2) substrate in the Ras/extracellular signal-regulated kinase (ERK) pathway.
Q36418877Src homology 2 domain-containing phosphatase 2 (Shp2) is a component of the A-kinase-anchoring protein (AKAP)-Lbc complex and is inhibited by protein kinase A (PKA) under pathological hypertrophic conditions in the heart
Q47377334Src homology 2 domains enhance tyrosine phosphorylation in vivo by protecting binding sites in their target proteins from dephosphorylation.
Q28300658Stops along the RAS pathway in human genetic disease
Q27676674Structural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 Mutations
Q33556868Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)
Q42716640Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.
Q29147386Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome
Q26825507Structure and function of Gab2 and its role in cancer (Review)
Q33714000Targeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction.
Q43082953Targeting SHP2 phosphatase in myeloproliferative neoplasms
Q38261370Targeting protein tyrosine phosphatase SHP2 for therapeutic intervention
Q34800539The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration
Q37159467The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
Q27022142The RASopathies
Q24655603The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
Q92862300The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases
Q36959274The etiology and molecular genetics of human pigmentation disorders
Q27024385The neural crest in cardiac congenital anomalies
Q35118478The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease.
Q92833758The role of tyrosine phosphatase Shp2 in spermatogonial differentiation and spermatocyte meiosis
Q37732956The tyrosine phosphatase Shp2 in development and cancer
Q34558084Understanding intellectual disability through RASopathies

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