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Journal of Medicinal Chemistry, ISSN 0022-2623, 02/2019, Volume 62, Issue 4, pp. 1781 - 1792
SHP2 is a nonreceptor protein tyrosine phosphatase within the mitogen-activated protein kinase (MAPK) pathway controlling cell growth, differentiation, and... 
CHEMISTRY, MEDICINAL | PTPN11 | TYROSINE-PHOSPHATASE SHP2
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 08/2015, Volume 37, Issue 6, pp. 486 - 487
Journal Article
Oncotarget, ISSN 1949-2553, 04/2018, Volume 9, Issue 31, pp. 21831 - 21843
Juvenile Myelomonocytic Leukemia (JMML) is a pediatric myeloproliferative neoplasm (MPN) that has a poor prognosis. Somatic mutations in Ptpn11 are the most... 
JMML | MPN | PTPN11 | Lineage tracing
Journal Article
CARCINOGENESIS, ISSN 0143-3334, 08/2014, Volume 35, Issue 8, pp. 1717 - 1725
Lung cancer is a major disease carrying heterogeneous molecular lesions and many of them remain to be analyzed functionally in vivo. Gain-of-function (GOF)... 
HEMATOPOIETIC-CELLS | SHP2 PTPN11 | SOLID TUMORS | ONCOLOGY | EPIDERMAL-GROWTH-FACTOR | PROTEIN-TYROSINE PHOSPHATASES | MEDIATED CASSETTE EXCHANGE | PTPN11 MUTATIONS | CANCER | SOMATIC MUTATIONS | EGF RECEPTOR
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D433 - D441
Abstract For 15 years the mission of PhosphoSitePlus® (PSP, https://www.phosphosite.org) has been to provide comprehensive information and tools for the study... 
PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | PATTERNS | MECHANISMS | PTPN11 | MUTATIONS | PREDICTION | Database Issue
Journal Article
Journal of Medicinal Chemistry, ISSN 0022-2623, 02/2019, Volume 62, Issue 4, pp. 1793 - 1802
Protein tyrosine phosphatase SHP2 is an oncoprotein associated with cancer as well as a potential immune modulator because of its role in the programmed cell... 
ALLOSTERIC-INHIBITION | CHEMISTRY, MEDICINAL | PTPN11 | TYROSINE-PHOSPHATASE SHP2 | MUTATIONS | IDENTIFICATION | DISCOVERY
Journal Article
Cell Reports, ISSN 2211-1247, 04/2018, Volume 23, Issue 1, pp. 39 - 49
In chronic infection and cancer, T cells acquire a dysfunctional state characterized by the expression of inhibitory receptors. studies implicated the... 
Shp-2 | checkpoint therapy | chronic infection | inhibitory receptors | Ptpn11 | T cell exhaustion | cancer | PD-1 | ACTIVATION | PHOSPHORYLATION | RECEPTOR | MICE | PTPN11 | SUPPRESSES | DIFFERENTIATION | CHRONIC VIRAL-INFECTION | CANCER | PROTEIN-TYROSINE-PHOSPHATASE | CELL BIOLOGY
Journal Article
British Journal of Haematology, ISSN 0007-1048, 2019
We established mutated and non-mutated induced pluripotent stem cell (iPSC) clones from a patient with PTPN11 (c.226G>A)-mutated juvenile myelomonocytic... 
AGM-S3 | PTPN11 mutation | juvenile myelomonocytic leukaemia | induced pluripotent stem cell | haematopoietic differentiation
Journal Article
Journal of Medicinal Chemistry, ISSN 0022-2623, 02/2019, Volume 62, Issue 3, pp. 1125 - 1137
Genetic mutations in the phosphatase PTPN11 (SHP2) are associated with childhood leukemias. These mutations cause hyperactivation of SHP2 due to the disruption... 
CHEMISTRY, MEDICINAL | PROTEIN | RESONANCE | GENE | ALLOSTERIC INHIBITION | MYELOID-LEUKEMIA | PTPN11 MUTATIONS | MODEL | IDENTIFICATION | THERMAL SHIFT ASSAYS
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 279 - 284
Journal Article
PEDIATRIC ENDOCRINOLOGY REVIEWS PER, ISSN 1565-4753, 05/2019, Volume 16, Issue Suppl 2, pp. 424 - 427
Early in her career, Jacqueline Noonan, a pediatric cardiologist, recognized that a number of children with valvular pulmonary stenosis had similar facial... 
MUTATIONS CAUSE NOONAN | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | Noonan Syndrome | PTPN11 | PTPN11 MUTATIONS | OF-FUNCTION MUTATIONS | History | CHILDREN | Mutation | Intellectual Disability | Humans
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 05/2019, Volume 66, Issue 5, pp. e27625 - n/a
Noonan syndrome (NS) is an autosomal dominant disorder commonly caused by PTPN11 germline mutations. Patients are characterized by short stature, congenital... 
PTPN11 mutations | brain tumor | high‐grade glioma | Noonan syndrome | RASopathy | high-grade glioma | PTPN11 | COSTELLO | CANCER | ONCOLOGY | JUVENILE MYELOMONOCYTIC LEUKEMIA | NERVOUS-SYSTEM TUMORS | PEDIATRICS | MUTATIONS | HEMATOLOGY | BRAIN | Gene mutations | Gliomas | Brain tumors | Heart | Brain | Glioma | Medulloblastoma | Brain cancer | Noonan's syndrome | Mutation | Astrocytoma | Tumors | Hereditary diseases
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 451 - 459
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article