Citations for
1IL21, PTPN11
Protein Tyrosine Phosphatase SHP-2 Is Involved in the Interleukin-21-Induced Activation of Extracellular Signal-Regulated Kinase 1/2.
Jin L, Nara H, Rahman M, Takeda Y, Araki A, Asao H.
Tohoku J Exp Med 244(3):187-193. doi: 10.1620/tjem.244.187. 2018
2ICAM1, PTPN11, SHP2
Endothelial cell SHP-2 negatively regulates neutrophil adhesion and promotes transmigration by enhancing ICAM-1-VE-cadherin interaction.
Yan M, Zhang X, Chen A, Gu W, Liu J, Ren X, Zhang J, Wu X, Place AT, Minshall RD, Liu G.
FASEB J 31(11):4759-4769. doi: 10.1096/fj.201700280R. Epub 2017 Jul 12. 2017
3PDCD1, PTPN11
PD-1 Blunts the Function of Ovarian Tumor-Infiltrating Dendritic Cells by Inactivating NF-κB.
Karyampudi L, Lamichhane P, Krempski J, Kalli KR, Behrens MD, Vargas DM, Hartmann LC, Janco JM, Dong H, Hedin KE, Dietz AB, Goode EL, Knutson KL.
Cancer Res 76(2):239-50. doi: 10.1158/0008-5472.CAN-15-0748. 2016
4PTPN11, UGP2
SHP2 and UGP2 are Biomarkers for Progression and Poor Prognosis of Gallbladder Cancer.
Wang Q, Yang ZL, Zou Q, Yuan Y, Li J, Liang L, Zeng G, Chen S.
Cancer Invest 34(6):255-64. doi: 10.1080/07357907.2016.1193745. Epub 2016 Jul 7. 2016
5CLEC7A, PTPN11, TDGF1P3
Protein-tyrosine phosphatase Shp2 positively regulates macrophage oxidative burst.
Li XJ, Goodwin CB, Nabinger SC, Richine BM, Yang Z, Hanenberg H, Ohnishi H, Matozaki T, Feng GS, Chan RJ.
J Biol Chem 290(7):3894-909. doi: 10.1074/jbc.M114.614057. Epub 2014 Dec 23. 2015
6CAV1, PTPN11
Protein-protein interaction between caveolin-1 and SHP-2 is dependent on the N-SH2 domain of SHP-2.
Park H, Ahn KJ, Lee Kang J, Choi YH.
BMB Rep 48(3):184-9. 2015
7HOOK1, PTPN11
SHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.
Li S, Wang L, Zhao Q, Liu Y, He L, Xu Q, Sun X, Teng L, Cheng H, Ke Y.
J Biol Chem 289(49):34152-60. doi: 10.1074/jbc.M113.546077. Epub 2014 Oct 20. 2014
8PTPN11
Src-homology 2 domain-containing tyrosine phosphatase 2 promotes oral cancer invasion and metastasis.
Wang HC, Chiang WF, Huang HH, Shen YY, Chiang HC.
BMC Cancer 14:442. doi: 10.1186/1471-2407-14-442. 2014
9ECDM2, PTPN11
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates.
Bowen ME, Ayturk UM, Kurek KC, Yang W, Warman ML.
PLoS Genet 10(5):e1004364. doi: 10.1371/journal.pgen.1004364. eCollection 2014. 2014
10PTPN11
The transition from stem cell to progenitor spermatogonia and male fertility requires the SHP2 protein tyrosine phosphatase.
Puri P, Phillips BT, Suzuki H, Orwig KE, Rajkovic A, Lapinski PE, King PD, Feng GS, Walker WH.
Stem Cells 32(3):741-53. doi: 10.1002/stem.1572. 2014
11FRS2, PTPN11
Frs2α and Shp2 signal independently of Gab to mediate FGF signaling in lens development.
Li H, Tao C, Cai Z, Hertzler-Schaefer K, Collins TN, Wang F, Feng GS, Gotoh N, Zhang X.
J Cell Sci 127(Pt 3):571-82. doi: 10.1242/jcs.134478. Epub 2013 Nov 27. 2014
12FGFR2, GRB2, PTPN11
Grb2 controls phosphorylation of FGFR2 by inhibiting receptor kinase and Shp2 phosphatase activity.
Ahmed Z, Lin CC, Suen KM, Melo FA, Levitt JA, Suhling K, Ladbury JE.
J Cell Biol 200(4):493-504. doi: 10.1083/jcb.201204106. 2013
13NS1, PTPN11
Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection.
Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N.
Am J Hum Genet m J Hum Genet. 2013 May 29. doi:pii: S0002-9297(13)00214-0. 10.1016/j.ajhg.2013.05.001. [Epub ahead of print] 2013
14PTPN11
Targeting SHP2 for EGFR inhibitor resistant non-small cell lung carcinoma.
Xu J, Zeng LF, Shen W, Turchi JJ, Zhang ZY.
Biochem Biophys Res Commun 439(4):586-90. doi: 10.1016/j.bbrc.2013.09.028. Epub 2013 Sep 13. 2013
15PTPN11, RPS6KB1
Novel role for SHP-2 in nutrient-responsive control of S6 kinase 1 signaling.
Mercan F, Lee H, Kolli S, Bennett AM.
Mol Cell Biol 33(2):293-306. doi: 10.1128/MCB.01285-12. Epub 2012 Nov 5. 2013
16PTPN11, TAZ, YAP1
YAP and TAZ, Hippo signaling targets, act as a rheostat for nuclear SHP2 function.
Tsutsumi R, Masoudi M, Takahashi A, Fujii Y, Hayashi T, Kikuchi I, Satou Y, Taira M, Hatakeyama M.
Dev Cell 26(6):658-65. doi: 10.1016/j.devcel.2013.08.013. Epub 2013 Sep 12. 2013
17PTPN11
Induction of a tumor-associated activating mutation in protein tyrosine phosphatase Ptpn11 (Shp2) enhances mitochondrial metabolism, leading to oxidative stress and senescence.
Zheng H, Li S, Hsu P, Qu CK.
J Biol Chem 288(36):25727-38. doi: 10.1074/jbc.M113.462291. Epub 2013 Jul 24. 2013
18PTPN11
The tyrosine phosphatase SHP2 regulates focal adhesion kinase to promote EGF-induced lamellipodia persistence and cell migration.
Hartman ZR, Schaller MD, Agazie YM.
Mol Cancer Res 11(6):651-64. doi: 10.1158/1541-7786.MCR-12-0578. Epub 2013 Mar 19. 2013
19PTPN11
Shp2 plays a crucial role in cell structural orientation and force polarity in response to matrix rigidity.
Lee HH, Lee HC, Chou CC, Hur SS, Osterday K, del Álamo JC, Lasheras JC, Chien S.
Proc Natl Acad Sci U S A 110(8):2840-5. doi: 10.1073/pnas.1222164110. Epub 2013 Jan 28. 2013
20PTPN11
Shp2 function in hematopoietic stem cell biology and leukemogenesis.
Nabinger SC, Chan RJ.
Curr Opin Hematol 19(4):273-9. Review. 2012
21KRAS, NS1, PTPN11, RASA1
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A.
Proc Natl Acad Sci U S A 109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27. 2012
22PTPN11, ROCK2
SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton.
Langdon Y, Tandon P, Paden E, Duddy J, Taylor JM, Conlon FL.
Development 139(5):948-57. doi: 10.1242/dev.067579. Epub 2012 Jan 25. 2012
23CDH5, CTNNB1, PTPN11
The tyrosine phosphatase SHP2 regulates recovery of endothelial adherens junctions through control of β-catenin phosphorylation.
Timmerman I, Hoogenboezem M, Bennett AM, Geerts D, Hordijk PL, van Buul JD.
Mol Biol Cell 23(21):4212-25. doi: 10.1091/mbc.E12-01-0038. Epub 2012 Sep 5. 2012
24ACSL4, PTPN11
Tyrosine phosphatase SHP2 regulates the expression of acyl-CoA synthetase ACSL4.
Cooke M, Orlando U, Maloberti P, Podesta EJ, Cornejo Maciel F.
J Lipid Res Lipid Res. 2011 Sep 8. [Epub ahead of print] 2011
25GP6, LYN, PECAM1, PTPN11
Lyn and PECAM-1 function as interdependent inhibitors of platelet aggregation.
Ming Z, Hu Y, Xiang J, Polewski P, Newman PJ, Newman DK.
Blood 117(14):3903-6. Epub 2011 Feb 4. 2011
26ECDM2, PTPN11
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.
PLoS Genet 7(4):e1002050. Epub 2011 Apr 14. 2011
27CDC73, PTPN11
SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver.
Takahashi A, Tsutsumi R, Kikuchi I, Obuse C, Saito Y, Seidi A, Karisch R, Fernandez M, Cho T, Ohnishi N, Rozenblatt-Rosen O, Meyerson M, Neel BG, Hatakeyama M.
Mol Cell 43(1):45-56. 2011
28PTPN11, PTPN6, SIGLEC12
SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas.
Mitra N, Banda K, Altheide TK, Schaffer L, Johnson-Pais TL, Beuten J, Leach RJ, Angata T, Varki N, Varki A.
J Biol Chem 286(26):23003-11. Epub 2011 May 9. 2011
29PTPN11
Loss of Shp2-mediated mitogen-activated protein kinase signaling in Muller glial cells results in retinal degeneration.
Cai Z, Simons DL, Fu XY, Feng GS, Wu SM, Zhang X.
Mol Cell Biol 31(14):2973-83. Epub 2011 May 16. 2011
30PTPN11
A critical role for SHP2 in STAT5 activation and growth factor-mediated proliferation, survival, and differentiation of human CD34+ cells.
Li L, Modi H, McDonald T, Rossi J, Yee JK, Bhatia R.
Blood 118(6):1504-15. Epub 2011 Jun 13. 2011
31PTPN11
SHP2 tyrosine phosphatase stimulates CEBPA gene expression to mediate cytokine-dependent granulopoiesis.
Zhang L, Friedman AD.
Blood 118(8):2266-74. Epub 2011 Jul 1. 2011
32NS1, PTPN11
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N.
Eur J Hum Genet 19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16. 2011
33CEBPA, PTPN11
SHP2 tyrosine phosphatase stimulates CEBPA gene expression to mediate cytokine-dependent granulopoiesis.
Zhang L, Friedman AD.
Blood 118(8):2266-74. doi: 10.1182/blood-2011-01-331157. Epub 2011 Jul 1. 2011
34LEOPS, PTPN11
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
Edouard T, Combier JP, Nédélec A, Bel-Vialar S, Métrich M, Conte-Auriol F, Lyonnet S, Parfait B, Tauber M, Salles JP, Lezoualc'h F, Yart A, Raynal P.
Mol Cell Biol 30(10):2498-507. Epub 2010 Mar 22.PMID: 20308328 2010
35LEOPS, PTPN11
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR.
Nature 465(7299):808-12.PMID: 20535210 2010
36COASY, PTPN11
CoA Synthase is phosphorylated on tyrosines in mammalian cells, interacts with and is dephosphorylated by Shp2PTP.
Breus O, Panasyuk G, Gout IT, Filonenko V, Nemazanyy I.
Mol Cell Biochem 335(1-2):195-202. doi: 10.1007/s11010-009-0255-6. Epub 2009 Sep 18. 2010
37NS1, PTPN11
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
Wang S, Yu WM, Zhang W, McCrae KR, Neel BG, Qu CK.
J Biol Chem 284(2):913-20. Epub 2008 Nov 13. 2009
38PTPN11
Deletion of Shp2 tyrosine phosphatase in muscle leads to dilated cardiomyopathy, insulin resistance, and premature death.
Princen F, Bard E, Sheikh F, Zhang SS, Wang J, Zago WM, Wu D, Trelles RD, Bailly-Maitre B, Kahn CR, Chen Y, Reed JC, Tong GG, Mercola M, Chen J, Feng GS.
Mol Cell Biol 29(2):378-88. Epub 2008 Nov 10. 2009
39LEOPS, PTPN11
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb BD.
Hum Mol Genet 18(1):193-201. Epub 2008 Oct 11. 2009
40NS1, PTPN11
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.
Araki T, Chan G, Newbigging S, Morikawa L, Bronson RT, Neel BG.
Proc Natl Acad Sci U S A 106(12):4736-41. Epub 2009 Feb 27. 2009
41PTPN11
Molecular mechanism for SHP2 in promoting HER2-induced signaling and transformation.
Zhou X, Agazie YM.
J Biol Chem 284(18):12226-34. Epub 2009 Mar 4. 2009
42NF1, NFNS, PTPN11
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.
Am J Med Genet A 149A(6):1263-7. 2009
43PTPN11, SEMA4D
Protein tyrosine phosphatase SHP2 is involved in Semaphorin 4D-induced axon repulsion.
Fuchikawa T, Nakamura F, Fukuda N, Takei K, Goshima Y.
Biochem Biophys Res Commun 385(1):6-10. Epub 2009 May 9. 2009
44PTK2, PTPN11
SHP-2 regulates myogenesis by coupling to FAK signaling pathway.
de Oliveira MV, Marin TM, Clemente CF, Costa AP, Judice CC, Franchini KG.
FEBS Lett 583(18):2975-81. Epub 2009 Aug 19.PMID: 19698715 2009
45GATA2, JUN, PTPN11
Increased c-Jun expression and reduced GATA2 expression promote aberrant monocytic differentiation induced by activating PTPN11 mutants.
Yang Z, Kondo T, Voorhorst CS, Nabinger SC, Ndong L, Yin F, Chan EM, Yu M, Würstlin O, Kratz CP, Niemeyer CM, Flotho C, Hashino E, Chan RJ.
Mol Cell Biol 29(16):4376-93. Epub 2009 Jun 15.PMID: 19528235 2009
46PTPN11, STAT3
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
Zhang W, Chan RJ, Chen H, Yang Z, He Y, Zhang X, Luo Y, Yin F, Moh A, Miller LC, Payne RM, Zhang ZY, Fu XY, Shou W.
J Biol Chem 284(33):22353-63. Epub 2009 Jun 9.PMID: 19509418 2009
47NS1, NS4, PTPN11, SOS1
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B.
Eur J Hum Genet 17(10):1216-21. Epub 2009 Apr 8.PMID: 19352411 2009
48NEDD9, PTPN11
SHP-2 inhibits tyrosine phosphorylation of Cas-L and regulates cell migration.
Yo K, Iwata S, Hashizume Y, Kondo S, Nomura S, Hosono O, Kawasaki H, Tanaka H, Dang NH, Morimoto C.
Biochem Biophys Res Commun 382(1):210-4. Epub 2009 Mar 9. 2009
49FLT3, NRAS, KRAS, PTPN11
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
Paulsson K, Horvat A, Stršmbeck B, Nilsson F, Heldrup J, Behrendtz M, Forestier E, Andersson A, Fioretos T, Johansson B.
Genes Chromosomes Cancer 47(1):26-33. 2008
50LEOPS, NS1, PTPN11
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M.
Hum Mol Genet 17(13):2018-29. Epub 2008 Mar 27. 2008
51BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
Krab LC, Goorden SM, Elgersma Y.
Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
52MAPK1, MAPK3, NS1, PTPN11
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome.
Krenz M, Gulick J, Osinska HE, Colbert MC, Molkentin JD, Robbins J.
Proc Natl Acad Sci U S A 105(48):18930-5. Epub 2008 Nov 18. 2008
53KRAS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
Ko JM, Kim JM, Kim GH, Yoo HW.
J Hum Genet 53(11-12):999-1006. Epub 2008 Nov 20. 2008
54NS1, PTPN11
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA.
Clin Endocrinol (Oxf) 69(3):426-31. Epub 2008 Mar 10.PMID: 18331608 2008
55PTPN11, ROCK2
Regulation of RhoA-dependent ROCKII activation by Shp2.
Lee HH, Chang ZF.
J Cell Biol 181(6):999-1012.PMID: 18559669 2008
56PTPN11, NS1
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.
Zenker M, Voss E, Reis A.
Eur J Med Genet 50(1):43-7. Epub 2006 Sep 14. 2007
57NS1,PTPN11
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A.
Pediatrics 119(6):e1325-31. Epub 2007 May 21. 2007
58PTPN11, NS1
Reduced tumor growth in vivo and increased c-Abl activity in PC3 prostate cancer cells overexpressing the Shb adapter protein.
Davoodpour P, Landstrom M, Welsh M.
BMC Cancer 7:161. 2007
59PTPN11
Poliovirus entry into human brain microvascular cells requires receptor-induced activation of SHP-2.
Coyne CB, Kim KS, Bergelson JM.
EMBO J 26(17):4016-28. Epub 2007 Aug 23. 2007
60PTPN11
PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.
Chan RJ, Feng GS.
Blood 109(3):862-7. Epub 2006 Oct 19. 2007
61PTPN11, LEOPS, NS1
Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease.
Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt I, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD.
Am J Hum Genet 78(2):279-90. Epub 2005 Dec 7. 2006
62PTPN11, NS1, NFATC1
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
Uhlen P, Burch PM, Zito CI, Estrada M, Ehrlich BE, Bennett AM.
Proc Natl Acad Sci U S A 103(7):2160-5. Epub 2006 Feb 3. 2006
63PTPN11
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, Hongo T, Taki T, Ogasawara M, Shimada A, Hayashi Y.
Genes Chromosomes Cancer 45(6):583-91. 2006
64PTPN11
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.
Sarkozy A, Lepri F, Marino B, Pizzuti A, Digilio MC, Dallapiccola B.
Am J Med Genet A 140(18):1970-2. No abstract available. 2006
65PTPN11, LEOPS
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG.
J Biol Chem 281(10):6785-92. Epub 2005 Dec 23. 2006
66PTPN11, IL3
Effects of a leukemia-associated gain-of-function mutation of SHP-2 phosphatase on interleukin-3 signaling.
Yu WM, Daino H, Chen J, Bunting KD, Qu CK.
J Biol Chem 281(9):5426-34. Epub 2005 Dec 21. 2006
67PTPN11
Mutation of Thr466 in SHP2 abolishes its phosphatase activity, but provides a new substrate-trapping mutant.
Merritt R, Hayman MJ, Agazie YM.
Biochim Biophys Acta 1763(1):45-56. Epub 2005 Dec 20. 2006
68PTPN11, NS1
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
Kitsiou-Tzeli S, Papadopoulou A, Kanaka-Gantenbein C, Fretzayas A, Daskalopoulos D, Kanavakis E, Nicolaidou P.
Horm Res 66(3):124-31. Epub 2006 Jun 23. 2006
69PTPN11, LEOPS
PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome phenotype.
Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B.
Eur J Pediatr 165(11):803-5. Epub 2006 May 30. 2006
70NS1, PTPN11
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
Gelb BD, Tartaglia M.
Hum Mol Genet 15 Spec No 2:R220-6. Review. 2006
71CCKBR, PTPN11
An ITIM-like motif within the CCK2 receptor sequence required for interaction with SHP-2 and the activation of the AKT pathway.
Vatinel S, Ferrand A, Lopez F, Kowalski-Chauvel A, Estève JP, Fourmy D, Dufresne M, Seva C.
Biochim Biophys Acta 1763(10):1098-107. Epub 2006 Jul 21. 2006
72PTPN11, NGCS
Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.
Jafarov T, Ferimazova N, Reichenberger E.
Clin Genet 68(2):190-1. No abstract available. 2005
73NS1, PTPN11
Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.
Lee WH, Raas-Rotschild A, Miteva MA, Bolasco G, Rein A, Gillis D, Vidaud D, Vidaud M, Villoutreix BO, Parfait B.
Proteins 58(1):7-13. 2005
74LEOPS, PTPN11
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S.
J Hum Genet 50(1):21-5. Epub 2004 Dec 10. 2005
75PTPN11
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y.
J Hum Genet 50(4):192-202. Epub 2005 Apr 15. 2005
76PTPN11, NS1
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
Keilhack H, David FS, McGregor M, Cantley LC, Neel BG.
J Biol Chem 280(35):30984-93. Epub 2005 Jun 29. 2005
77SIRPA, SHC1, PTPN11, IGF1
Role of SHPS-1 in the regulation of insulin-like growth factor I-stimulated Shc and mitogen-activated protein kinase activation in vascular smooth muscle cells.
Ling Y, Maile LA, Lieskovska J, Badley-Clarke J, Clemmons DR.
Mol Biol Cell 16(7):3353-64. Epub 2005 May 11. 2005
78GAB1, PTPN11
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
Fragale A, Tartaglia M, Wu J, Gelb BD.
Hum Mutat 23(3):267-77. 2004
79PTPN11, NS1
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD.
Am J Hum Genet 75(3):492-7. Epub 2004 Jul 09. 2004
80PTPN11, NGCS
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B.
Eur J Hum Genet 12(12):1069-72. 2004
81NS1, PTPN11
Genotype-phenotype correlations in Noonan syndrome.
Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A.
J Pediatr 144(3):368-74. 2004
82PTPN11
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM.
Blood 103(6):2325-31. Epub 2003 Nov 26. 2004
83PTPN11
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD.
Nat Genet 34(2):148-50. 2003
84LEOPS, NS1, PTPN11
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B.
J Med Genet 40(9):704-8. No abstract available. 2003
85INPP5D, PTPN11, PTPN6
Death receptors bind SHP-1 and block cytokine-induced anti-apoptotic signaling in neutrophils.
Daigle I, Yousefi S, Colonna M, Green DR, Simon HU.
Nat Med 8(1):61-7. 2002
86PDGFRB, PTPN11
SHP-2 is involved in heterodimer specific loss of phosphorylation of Tyr771 in the PDGF beta-receptor.
Ekman S, Kallin A, Engstrom U, Heldin CH, Ronnstrand L.
Oncogene 21(12):1870-5. 2002
87LEOPS, NS1, PTPN11
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.
Am J Hum Genet 71(2):389-94. 2002
88LEOPS, PTPN11
PTPN11 mutations in LEOPARD syndrome.
Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP.
J Med Genet 39(8):571-4. 2002
89NS1, PTPN11
PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R.
Hum Mutat 20(4):298-304. 2002
90PTPN11, NS1
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.
Am J Hum Genet 70(6):1555-63. Epub 2002 May 1. 2002
91NS1, PTPN11
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD.
Nat Genet 29(4):465-8. 2001
92PTPN11
The SH2 tyrosine phosphatase shp2 is required for mammalian limb development.
Saxton TM, Ciruna BG, Holmyard D, Kulkarni S, Harpal K, Rossant J, Pawson T.
Nat Genet 24(4):420-3. 2000
93PTPN11, SOCS1, SOCS3
SOCS3 exerts its inhibitory function on interleukin-6 signal transduction through the SHP2 recruitment site of gp130.
Schmitz J, Weissenbach M, Haan S, Heinrich PC, Schaper F.
J Biol Chem 275(17):12848-56. 2000
94PTPN11, PTPN6
SH2-containing protein tyrosine phosphatases SHP-1 and SHP-2 are dramatically increased at the protein level in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome).
Tidow N, et al.
Exp Hematol 27(6):1038-45. 1999
95PTPN11
Purification and cloning of PZR, a binding protein and putative physiological substrate of tyrosine phosphatase SHP-2.
Zhao ZJ, Zhao R.
J Biol Chem 273 : 29367-29372. 1998
96ALDH2, ATP2A2, OAS1, PPP1CC, PTPN11, ATXN2
A sequence-ready physical map of a region of 12q24.1.
Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R.
Genomics 45(2):271-8. 1997
97PTPN11, SIRPA
A novel membrane glycoprotein, SHPS-1, that binds the SH2-domain-containing protein tyrosine phosphatase SHP-2 in response to mitogens and cell adhesion.
Fujioka Y, et al.
Mol Cell Biol 16 : 6887-6899. 1996
98PTPN11
Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.
Dechert U, et al.
Hum Genet 96 : 609-615. 1995
99PTPN11
Chromosomal localization of an SH2 containing tyrosine phosphatase (SH-PTP3) gene to chromosome 12q24.1.
Isobe M, et al.
Oncogene 9 : 1751-1753. 1994
100PTPN11
A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains.
Ahmad S, et al.
Proc Natl Acad Sci U S A 90 : 2197-2201. 1993
101PTPN11
Activation of a phosphotyrosine phosphatase by tyrosine phosphorylation.
Vogel W, et al.
Science 259 : 1611-1614. 1993
102PTPN11
Identification of a human src homology 2-containing protein-tyrosine-phosphatase : a putative homolog of Drosophila corkscrew.
Freeman RM, et al.
Proc Natl Acad Sci U S A 89 : 11239-11243. 1992