scholarly article | Q13442814 |
P2093 | author name string | Benjamin G Neel | |
Kenneth D Swanson | |||
David Barford | |||
Frank S David | |||
Maria I Kontaridis | |||
P2860 | cites work | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome | Q24291893 |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene | Q24299557 | ||
Structural basis for phosphotyrosine peptide recognition by protein tyrosine phosphatase 1B | Q27729426 | ||
Crystal structure of human protein tyrosine phosphatase 1B | Q27731235 | ||
Visualization of the cysteinyl-phosphate intermediate of a protein-tyrosine phosphatase by x-ray crystallography | Q27749490 | ||
Cell migration: integrating signals from front to back | Q27860670 | ||
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling | Q28182148 | ||
Multiple Lentigenes Syndrome | Q28255802 | ||
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia | Q28298677 | ||
Nf1 has an essential role in endothelial cells | Q28507662 | ||
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation | Q28594140 | ||
Heart valve development: endothelial cell signaling and differentiation | Q33607338 | ||
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 activity | Q33962208 | ||
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 pathogenesis | Q34560418 | ||
Defective valvulogenesis in HB-EGF and TACE-null mice is associated with aberrant BMP signaling | Q35032897 | ||
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience | Q35444224 | ||
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor | Q35847470 | ||
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia | Q36100102 | ||
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 progression | Q40018398 | ||
SHP-2 positively regulates myogenesis by coupling to the Rho GTPase signaling pathway | Q40550696 | ||
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation | Q40587895 | ||
The protein tyrosine phosphatase Shp-2 regulates RhoA activity | Q40837843 | ||
Form and function in protein dephosphorylation | Q41193500 | ||
Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2. | Q41743522 | ||
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes | Q42480603 | ||
PTPN11 mutations in LEOPARD syndrome | Q43056955 | ||
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia | Q44419404 | ||
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis | Q44673842 | ||
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia | Q44775999 | ||
Noonan syndrome: the changing phenotype | Q49195666 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | LEOPARD syndrome | Q1798016 |
P304 | page(s) | 6785-92 | |
P577 | publication date | 2006-03-10 | |
P1433 | published in | Journal of Biological Chemistry | Q867727 |
P1476 | title | PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects | |
P478 | volume | 281 |
Q37732680 | A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome. |
Q24302232 | A Novel SHOC2 Variant in Rasopathy |
Q54348023 | A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. |
Q50301379 | A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder |
Q34310556 | A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells |
Q53155404 | 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. |
Q34722748 | Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder |
Q36929566 | Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection |
Q36702801 | An unexpected new role of mutant Ras: perturbation of human embryonic development |
Q57455562 | Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework |
Q42910760 | Biochemical and functional characterization of germ line KRAS mutations |
Q36057294 | Cardiomyopathies in Noonan syndrome and the other RASopathies |
Q42786875 | Cell biology: tumour stem cells in bone |
Q61798041 | Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort |
Q49887410 | Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures |
Q90092671 | Connecting the dots between SHP2 and glutamate receptors |
Q41843881 | 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 |
Q38605378 | 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 |
Q37287463 | Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice |
Q37033644 | Deletion of Shp2 tyrosine phosphatase in muscle leads to dilated cardiomyopathy, insulin resistance, and premature death |
Q34611774 | Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations |
Q37137867 | Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines |
Q48523025 | Dietary quercetin potentiates the antiproliferative effect of interferon-α in hepatocellular carcinoma cells through activation of JAK/STAT pathway signaling by inhibition of SHP2 phosphatase |
Q42131816 | Diminished functional role and altered localization of SHP2 in non-small cell lung cancer cells with EGFR-activating mutations |
Q34440570 | Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms |
Q37705054 | Distinct and overlapping functions of ptpn11 genes in Zebrafish development |
Q33979110 | Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes |
Q37028299 | Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas |
Q52537178 | Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). |
Q46578462 | Feedback regulation of RTK signaling in development. |
Q21245511 | Function, regulation and pathological roles of the Gab/DOS docking proteins |
Q24304242 | Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling |
Q37417271 | Future perspectives in melanoma research : Meeting report from the "Melanoma Bridge". Napoli, December 1st-4th 2015. |
Q43200145 | Gab docking proteins in cardiovascular disease, cancer, and inflammation |
Q27865193 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy |
Q52646137 | Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner. |
Q90669133 | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association |
Q36925323 | Genetic approaches for changing the heart and dissecting complex syndromes |
Q28276979 | Germline gain-of-function mutations in SOS1 cause Noonan syndrome |
Q24293473 | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype |
Q36648071 | Hematopoietic colony formation from human growth factor-dependent TF1 cells and human cord blood myeloid progenitor cells depends on SHP2 phosphatase function |
Q29616397 | Hyperactive Ras in developmental disorders and cancer |
Q30498183 | Identification of PTPsigma as an autophagic phosphatase. |
Q37150984 | Induction of a tumor-associated activating mutation in protein tyrosine phosphatase Ptpn11 (Shp2) enhances mitochondrial metabolism, leading to oxidative stress and senescence |
Q36951816 | Inhibition of SHP2 ameliorates the pathogenesis of systemic lupus erythematosus. |
Q54592678 | Is Raf1 a nexus for cardiac hypertrophic signaling in human disease? |
Q41880278 | LEOPARD Syndrome: Clinical Features and Gene Mutations |
Q34409247 | LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity |
Q39497765 | LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling |
Q36594223 | Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex |
Q21202917 | Leopard syndrome |
Q54228579 | Leopard syndrome: a report of five cases from one family in two generations. |
Q30475729 | Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome |
Q34853182 | MAP3Ks as central regulators of cell fate during development |
Q36099005 | MEK genomics in development and disease |
Q34627221 | MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation |
Q36745371 | MKK signaling and vascularization. |
Q55044850 | Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. |
Q35879519 | Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome |
Q39031139 | Modeling RASopathies with Genetically Modified Mouse Models. |
Q37143372 | Modeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes |
Q48510407 | Modifier variant of METTL13 suppresses human GAB1-associated profound deafness |
Q27684353 | Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations |
Q85544412 | Molecular mechanism of SHP2 activation by PD-1 stimulation |
Q37418909 | Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review). |
Q28508306 | Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development |
Q92861949 | Negative regulators of STAT3 signaling pathway in cancers |
Q39419046 | New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling |
Q34025431 | Next-generation sequencing identifies rare variants associated with Noonan syndrome |
Q35944775 | Nf1 limits epicardial derivative expansion by regulating epithelial to mesenchymal transition and proliferation |
Q35237519 | Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells |
Q34678373 | Noonan syndrome and clinically related disorders |
Q33806161 | Noonan syndrome: clinical aspects and molecular pathogenesis |
Q38406894 | PP6C hotspot mutations in melanoma display sensitivity to Aurora kinase inhibition. |
Q35616065 | PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase |
Q36025665 | PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? |
Q34056454 | PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice |
Q33910479 | Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome |
Q91660445 | Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations |
Q37102143 | Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development |
Q42591567 | Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis |
Q28542750 | Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome |
Q38901348 | Phosphorylation of eIF2α triggered by mTORC1 inhibition and PP6C activation is required for autophagy and is aberrant in PP6C-mutated melanoma |
Q35583091 | Protein Kinase A (PKA) Phosphorylation of Shp2 Protein Inhibits Its Phosphatase Activity and Modulates Ligand Specificity |
Q35101627 | Protein Tyrosine Phosphatase SHP-2 (PTPN11) in Hematopoiesis and Leukemogenesis |
Q58749617 | Protein Tyrosine Phosphatases as Potential Regulators of STAT3 Signaling |
Q30525672 | Protein tyrosine phosphatase Shp2 (Ptpn11) plays an important role in maintenance of chromosome stability |
Q37257055 | Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development |
Q49356041 | Protein tyrosine phosphatases in cardiac physiology and pathophysiology |
Q29614826 | Protein tyrosine phosphatases: from genes, to function, to disease |
Q42157466 | RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. |
Q34627120 | Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. |
Q53809069 | Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. |
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Q38601758 | Recent advances in RASopathies |
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Q49167741 | Shp2-Mitogen-Activated Protein Kinase Signaling Drives Proliferation during Zebrafish Embryo Caudal Fin Fold Regeneration |
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