scholarly article | Q13442814 |
P356 | DOI | 10.1038/NM1084 |
P8608 | Fatcat ID | release_3guzlxnrlnh5xaxt5ersizntu4 |
P698 | PubMed publication ID | 15273746 |
P5875 | ResearchGate publication ID | 8435489 |
P50 | author | Ifor R. Williams | Q71123246 |
P2093 | author name string | Benjamin G Neel | |
Roderick T Bronson | |||
Jeffery L Kutok | |||
D Gary Gilliland | |||
Jonathan A Epstein | |||
Toshiyuki Araki | |||
M Golam Mohi | |||
Fraz A Ismat | |||
Wentian Yang | |||
Lily I Pao | |||
P2860 | cites work | Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction | Q58194050 |
Noonan's Syndrome: Abnormalities of the Growth Hormone/IGF-I Axis and the Response to Treatment with Human Biosynthetic Growth Hormone | Q58811289 | ||
Noonan syndrome | Q68929823 | ||
Cardiac findings in 31 patients with Noonan's syndrome | Q73195706 | ||
Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia | Q75319373 | ||
Hematopoiesis: progenitors and their genetic program | Q77431770 | ||
Noonan syndrome and aortic coarctation | Q77521849 | ||
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome | Q24291893 | ||
Distinct domains in the SHP-2 phosphatase differentially regulate epidermal growth factor receptor/NF-kappaB activation through Gab1 in glioblastoma cells | Q24303794 | ||
Increased energy expenditure, decreased adiposity, and tissue-specific insulin sensitivity in protein-tyrosine phosphatase 1B-deficient mice | Q24552910 | ||
Crystal structure of the tyrosine phosphatase SHP-2 | Q27748898 | ||
Tyrosyl phosphorylation of Shp2 is required for normal ERK activation in response to some, but not all, growth factors | Q28118868 | ||
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling | Q28182148 | ||
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome | Q28216845 | ||
Met, metastasis, motility and more | Q28235183 | ||
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues | Q28238680 | ||
Nf1 has an essential role in endothelial cells | Q28507662 | ||
Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation | Q28589835 | ||
Spatial and temporal patterns of ERK signaling during mouse embryogenesis | Q28594004 | ||
Tumour predisposition in mice heterozygous for a targeted mutation in Nf1 | Q28594951 | ||
Critical role for Gab2 in transformation by BCR/ABL | Q28610046 | ||
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal | Q29013212 | ||
PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome | Q29395225 | ||
Missing pieces in the NF-kappaB puzzle | Q29547864 | ||
Occurrence of myeloproliferative disorder in patients with Noonan syndrome | Q33499657 | ||
Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal caps | Q33961297 | ||
Developing models of DiGeorge syndrome | Q34390727 | ||
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity | Q34522913 | ||
Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder | Q35735401 | ||
Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease | Q36056927 | ||
Modulation of the nuclear factor kappa B pathway by Shp-2 tyrosine phosphatase in mediating the induction of interleukin (IL)-6 by IL-1 or tumor necrosis factor | Q36376086 | ||
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation | Q40587895 | ||
Noonan syndrome. An update and review for the primary pediatrician | Q40655730 | ||
Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2. | Q41743522 | ||
Shp2 regulates SRC family kinase activity and Ras/Erk activation by controlling Csk recruitment | Q42831428 | ||
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | Q43073992 | ||
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | Q44153668 | ||
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome | Q44360479 | ||
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 | ||
Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects. | Q47745236 | ||
Noonan's syndrome in association with acute leukemia. | Q52012543 | ||
Ezh2 controls B cell development through histone H3 methylation and Igh rearrangement. | Q52110894 | ||
Hypertelorism With Turner Phenotype | Q56445668 | ||
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association | Q57199524 | ||
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Noonan syndrome | Q1543446 |
Protein tyrosine phosphatase, non-receptor type 11 | Q14905498 | ||
P304 | page(s) | 849-857 | |
P577 | publication date | 2004-07-25 | |
P1433 | published in | Nature Medicine | Q1633234 |
P1476 | title | Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation | |
P478 | volume | 10 |
Q54348023 | A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. |
Q34310556 | A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells |
Q35987653 | A microenvironment-induced myeloproliferative syndrome caused by retinoic acid receptor gamma deficiency |
Q24655745 | A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition |
Q40815470 | A suggested role for mitochondria in Noonan syndrome. |
Q36905741 | A tyrosine phosphatase SHP2 gain-of-function mutation enhances malignancy of breast carcinoma |
Q36970192 | Aberrant cytokine signaling in leukemia |
Q30357327 | Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy. |
Q35850643 | Abnormal hematopoiesis in Gab2 mutant mice |
Q50426367 | Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice. |
Q34722748 | Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder |
Q34360215 | Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation |
Q36702801 | An unexpected new role of mutant Ras: perturbation of human embryonic development |
Q27334347 | Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin |
Q42910760 | Biochemical and functional characterization of germ line KRAS mutations |
Q51818284 | CCL3 is a key mediator for the leukemogenic effect of Ptpn11-activating mutations in the stem-cell microenvironment. |
Q36833018 | Calcium signaling in vertebrate embryonic patterning and morphogenesis |
Q37179335 | Cardiac Gab1 deletion leads to dilated cardiomyopathy associated with mitochondrial damage and cardiomyocyte apoptosis |
Q90092671 | Connecting the dots between SHP2 and glutamate receptors |
Q30479691 | Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome |
Q33702150 | Copy-neutral loss of heterozygosity is prevalent and a late event in the pathogenesis of FLT3/ITD AML |
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 |
Q37137867 | Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines |
Q37705054 | Distinct and overlapping functions of ptpn11 genes in Zebrafish development |
Q38032488 | Dual faces of SH2-containing protein-tyrosine phosphatase Shp2/PTPN11 in tumorigenesis |
Q46863352 | Effects of a leukemia-associated gain-of-function mutation of SHP-2 phosphatase on interleukin-3 signaling |
Q34545577 | ErbB signaling in cardiac development and disease |
Q38372293 | Evaluation of telomere length in human cardiac tissues using cardiac quantitative FISH. |
Q92147972 | Excitatory neuron-specific SHP2-ERK signaling network regulates synaptic plasticity and memory |
Q47417440 | Exploring the effect of D61G mutation on SHP2 cause gain of function activity by a molecular dynamics study |
Q46578462 | Feedback regulation of RTK signaling in development. |
Q38641260 | From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models |
Q36100102 | Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia |
Q35847802 | Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells |
Q24304242 | Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling |
Q37171659 | GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism |
Q52646137 | Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner. |
Q36551546 | Gain-of-function mutations of Ptpn11 (Shp2) cause aberrant mitosis and increase susceptibility to DNA damage-induced malignancies |
Q30477015 | Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling |
Q36925323 | Genetic approaches for changing the heart and dissecting complex syndromes |
Q35023208 | Genetic dissection of quantitative trait Loci for hemostasis and thrombosis on mouse chromosomes 11 and 5 using congenic and subcongenic strains |
Q27014805 | Genetics of valvular heart disease |
Q51926108 | Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. |
Q28297024 | Germline KRAS mutations cause Noonan syndrome |
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 |
Q99557277 | Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes |
Q38184398 | Heart failure in congenital heart disease: the role of genes and hemodynamics |
Q30354085 | Hearts and bones: shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development. |
Q35847470 | Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor |
Q40318729 | Hyperactivation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations |
Q29616397 | Hyperactive Ras in developmental disorders and cancer |
Q57050402 | Hyperglycaemia-induced methylglyoxal accumulation potentiates VEGF resistance of diabetic monocytes through the aberrant activation of tyrosine phosphatase SHP-2/SRC kinase signalling axis |
Q30498183 | Identification of PTPsigma as an autophagic phosphatase. |
Q34155125 | Identification of cryptotanshinone as an inhibitor of oncogenic protein tyrosine phosphatase SHP2 (PTPN11). |
Q37104928 | Identification of small molecular weight inhibitors of Src homology 2 domain-containing tyrosine phosphatase 2 (SHP-2) via in silico database screening combined with experimental assay |
Q37599060 | In vivo severity ranking of Ras pathway mutations associated with developmental disorders |
Q36277286 | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants |
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. |
Q39990859 | Inhibition of SHP2 leads to mesenchymal to epithelial transition in breast cancer cells |
Q33774488 | Inhibition of the Gab2/PI3K/mTOR signaling ameliorates myeloid malignancy caused by Ptpn11 (Shp2) gain-of-function mutations |
Q34207978 | Interferon-gamma is induced in human peripheral blood immune cells in vitro by sodium stibogluconate/interleukin-2 and mediates its antitumor activity in vivo |
Q35804477 | K-RasG12D expression induces hyperproliferation and aberrant signaling in primary hematopoietic stem/progenitor cells |
Q34581270 | K-RasV14I recapitulates Noonan syndrome in mice |
Q36564695 | KRAS insertion mutations are oncogenic and exhibit distinct functional properties |
Q28590872 | Knock-in of an internal tandem duplication mutation into murine FLT3 confers myeloproliferative disease in a mouse model |
Q36756427 | Lessons on the pathogenesis of aneurysm from heritable conditions |
Q37653117 | Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment |
Q37176577 | Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis |
Q37333631 | Linking epithelial polarity and carcinogenesis by multitasking Helicobacter pylori virulence factor CagA. |
Q40903923 | Long-term serial xenotransplantation of juvenile myelomonocytic leukemia recapitulates human disease in Rag2-/-γc-/- mice |
Q37469169 | Low-dose dasatinib rescues cardiac function in Noonan syndrome |
Q34541593 | Lyn- and PLC-beta3-dependent regulation of SHP-1 phosphorylation controls Stat5 activity and myelomonocytic leukemia-like disease. |
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 |
Q24650601 | MEKK3 initiates transforming growth factor beta 2-dependent epithelial-to-mesenchymal transition during endocardial cushion morphogenesis |
Q52010492 | MEKK4 regulates developmental EMT in the embryonic heart. |
Q36745371 | MKK signaling and vascularization. |
Q36473553 | Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. |
Q42132309 | Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models |
Q35879519 | Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome |
Q54974212 | Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome. |
Q28296128 | Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale |
Q39031139 | Modeling RASopathies with Genetically Modified Mouse Models. |
Q27684353 | Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations |
Q91718644 | Molecular anatomy and pathogenic actions of Helicobacter pylori CagA that underpin gastric carcinogenesis |
Q37719525 | Molecular and cellular mechanisms of learning disabilities: a focus on NF1. |
Q37169498 | Molecular mechanism for SHP2 in promoting HER2-induced signaling and transformation |
Q35579349 | Molecular targets for the treatment of juvenile myelomonocytic leukemia |
Q28508306 | Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development |
Q37383073 | Mouse models of congenital cardiovascular disease |
Q24336157 | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair |
Q43203940 | Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. |
Q43133276 | Natural variant of the Helicobacter pylori CagA oncoprotein that lost the ability to interact with PAR1. |
Q37372285 | Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia |
Q64079255 | New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis |
Q35237519 | Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells |
Q35034373 | Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice |
Q64885654 | Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function. |
Q37112471 | Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation |
Q37340867 | Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations |
Q34421680 | Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. |
Q38631424 | Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation |
Q92292103 | Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish |
Q88371226 | Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth |
Q35837138 | Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. |
Q39917153 | Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis |
Q37343475 | Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway |
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