Condition: Juvenile Myelomonocytic Leukemia


rs121918546 in ARHGAP26 gene and Juvenile Myelomonocytic Leukemia PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

rs727504426 in CBL gene and Juvenile Myelomonocytic Leukemia PMID 19571318 2009 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

PMID 20955399 2010 Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

PMID 21901340 2012 Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.

rs121913529 in KRAS gene and Juvenile Myelomonocytic Leukemia PMID 15842656 2005 Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

PMID 19358724 2009 KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.

PMID 15696205 2005 KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

PMID 17910045 2008 Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.

PMID 17332249 2007 Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 21169357 2011 KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways.

PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

rs121434596 in NRAS gene and Juvenile Myelomonocytic Leukemia PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 17332249 2007 Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

PMID 10598665 2000 Juvenile myelomonocytic leukemia and Noonan syndrome.

PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

PMID 16518851 2006 Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.

PMID 19966803 2010 A restricted spectrum of NRAS mutations causes Noonan syndrome.

PMID 17384584 2007 Hyperactive Ras in developmental disorders and cancer.

rs121918453 in PTPN11 gene and Juvenile Myelomonocytic Leukemia PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

PMID 15928039 2005 The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

PMID 14644997 2004 Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.

PMID 23832011 2013 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

PMID 18470943 2008 The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

PMID 17910045 2008 Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.

PMID 12739139 2003 Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

PMID 15240615 2004 Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

PMID 12325025 2002 PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

PMID 16115145 2005 Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 15842656 2005 Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

PMID 15834506 2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 19352411 2009 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

PMID 17020470 2006 PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

PMID 22711529 2012 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.

PMID 25097206 2014 Juvenile myelomonocytic leukaemia and Noonan syndrome.

PMID 18562489 2008 Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.

PMID 19008228 2009 Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.

PMID 19835954 2010 A suggested role for mitochondria in Noonan syndrome.

PMID 25383899 2014 Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 24628801 2014 Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 22371576 2012 Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.

PMID 19251646 2009 Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

PMID 16461457 2006 Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.

PMID 24718990 2014 Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.

PMID 15273746 2004 Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

PMID 16377799 2006 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

PMID 21365683 2011 Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.

PMID 20651068 2010 A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.

PMID 16533526 2006 PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

PMID 16990350 2007 The natural history of Noonan syndrome: a long-term follow-up study.

PMID 18378677 2008 Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.

PMID 23756559 2013 Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

PMID 17177198 2007 Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.

PMID 14982869 2004 Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

PMID 16518851 2006 Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.

PMID 15385933 2004 PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.

PMID 15644411 2005 Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor.

PMID 21555152 2011 Genetic disruption of the scaffolding protein, Kinase Suppressor of Ras 1 (KSR1), differentially regulates GM-CSF-stimulated hyperproliferation in hematopoietic progenitors expressing activating PTPN11 mutants D61Y and E76K.

PMID 18925961 2008 Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

PMID 19773259 2009 Genome wide molecular analysis of minimally differentiated acute myeloid leukemia.

PMID 19179468 2009 To model JMML pathogenesis, we generated knockin mice that conditionally express the leukemia-associated mutant Ptpn11(D61Y).

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 15604238 2004 Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

PMID 19737548 2009 High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

PMID 15723289 2005 Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

PMID 12634870 2003 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

PMID 17339163 2007 Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

PMID 22315187 2012 Molecular genetic analysis of lymphoblastic blasts at the time of the ALL diagnosis revealed the germline mutation in a heterozygous state, while in the myelomonocytic blasts occurring with JMML diagnosis, the mutation p.E139D was found in a homozygous state due to a uniparental disomy (UPD).

PMID 17361219 2007 Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

PMID 20112233 2010 Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

PMID 20954246 2010 Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

PMID 18372317 2008 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

PMID 18678287 2009 Clinical and molecular characterization of 40 patients with Noonan syndrome.

PMID 23513489 2012 [Clinical and molecular study of the Noonan syndrome].

PMID 22465605 2012 Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 28628100 2017 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

PMID 18758896 2008 Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

rs267607042 in SETBP1 gene and Juvenile Myelomonocytic Leukemia PMID 23832011 2013 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.