Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation

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Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation is …
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scholarly articleQ13442814

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P356DOI10.1038/NM1084
P8608Fatcat IDrelease_3guzlxnrlnh5xaxt5ersizntu4
P698PubMed publication ID15273746
P5875ResearchGate publication ID8435489

P50authorIfor R. WilliamsQ71123246
P2093author name stringBenjamin 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
P2860cites workNoonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstructionQ58194050
Noonan's Syndrome: Abnormalities of the Growth Hormone/IGF-I Axis and the Response to Treatment with Human Biosynthetic Growth HormoneQ58811289
Noonan syndromeQ68929823
Cardiac findings in 31 patients with Noonan's syndromeQ73195706
Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemiaQ75319373
Hematopoiesis: progenitors and their genetic programQ77431770
Noonan syndrome and aortic coarctationQ77521849
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeQ24291893
Distinct domains in the SHP-2 phosphatase differentially regulate epidermal growth factor receptor/NF-kappaB activation through Gab1 in glioblastoma cellsQ24303794
Increased energy expenditure, decreased adiposity, and tissue-specific insulin sensitivity in protein-tyrosine phosphatase 1B-deficient miceQ24552910
Crystal structure of the tyrosine phosphatase SHP-2Q27748898
Tyrosyl phosphorylation of Shp2 is required for normal ERK activation in response to some, but not all, growth factorsQ28118868
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signalingQ28182148
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndromeQ28216845
Met, metastasis, motility and moreQ28235183
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissuesQ28238680
Nf1 has an essential role in endothelial cellsQ28507662
Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activationQ28589835
Spatial and temporal patterns of ERK signaling during mouse embryogenesisQ28594004
Tumour predisposition in mice heterozygous for a targeted mutation in Nf1Q28594951
Critical role for Gab2 in transformation by BCR/ABLQ28610046
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canalQ29013212
PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan SyndromeQ29395225
Missing pieces in the NF-kappaB puzzleQ29547864
Occurrence of myeloproliferative disorder in patients with Noonan syndromeQ33499657
Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal capsQ33961297
Developing models of DiGeorge syndromeQ34390727
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityQ34522913
Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorderQ35735401
Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative diseaseQ36056927
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 factorQ36376086
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationQ40587895
Noonan syndrome. An update and review for the primary pediatricianQ40655730
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 recruitmentQ42831428
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 syndromeQ44360479
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
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 PhenotypeQ56445668
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationQ57199524
P433issue8
P407language of work or nameEnglishQ1860
P921main subjectNoonan syndromeQ1543446
Protein tyrosine phosphatase, non-receptor type 11Q14905498
P304page(s)849-857
P577publication date2004-07-25
P1433published inNature MedicineQ1633234
P1476titleMouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation
P478volume10

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cites work (P2860)
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