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Items: 1 to 20 of 162

1.

Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia.

Müller PJ, Rigbolt KT, Paterok D, Piehler J, Vanselow J, Lasonder E, Andersen JS, Schaper F, Sobota RM.

J Proteomics. 2013 Jun 12;84:132-47. doi: 10.1016/j.jprot.2013.04.005. Epub 2013 Apr 11.

PMID:
23584145
2.
3.

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

Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG.

Cancer Res. 2004 Dec 15;64(24):8816-20.

4.

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.

Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M.

J Biol Chem. 2012 Aug 3;287(32):27066-77. doi: 10.1074/jbc.M112.350231. Epub 2012 Jun 18.

5.

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

Darian E, Guvench O, Yu B, Qu CK, MacKerell AD Jr.

Proteins. 2011 May;79(5):1573-88. doi: 10.1002/prot.22984. Epub 2011 Mar 1.

6.

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. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27.

7.

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. 2002 Oct;20(4):298-304.

PMID:
12325025
8.

Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

Yu ZH, Zhang RY, Walls CD, Chen L, Zhang S, Wu L, Liu S, Zhang ZY.

Biochemistry. 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695. Epub 2014 Jun 17.

9.

SHP2 sails from physiology to pathology.

Tajan M, de Rocca Serra A, Valet P, Edouard T, Yart A.

Eur J Med Genet. 2015 Oct;58(10):509-25. doi: 10.1016/j.ejmg.2015.08.005. Epub 2015 Sep 2. Review.

PMID:
26341048
10.

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

Qiu W, Wang X, Romanov V, Hutchinson A, Lin A, Ruzanov M, Battaile KP, Pai EF, Neel BG, Chirgadze NY.

BMC Struct Biol. 2014 Mar 14;14:10. doi: 10.1186/1472-6807-14-10.

11.

Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis.

Huang WQ, Lin Q, Zhuang X, Cai LL, Ruan RS, Lu ZX, Tzeng CM.

Curr Cancer Drug Targets. 2014;14(6):567-88. Review.

PMID:
25039348
12.

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

Keilhack H, David FS, McGregor M, Cantley LC, Neel BG.

J Biol Chem. 2005 Sep 2;280(35):30984-93. Epub 2005 Jun 29.

13.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Delle Vigne S, Sorge G, Karaer K, Cuturilo G, Sartorio A, Tinschert S, Accadia M, Digilio MC, Zampino G, De Luca A, Cavé H, Zenker M, Gelb BD, Dallapiccola B, Stella L, Ferrero GB, Martinelli S, Tartaglia M.

Hum Mutat. 2017 Apr;38(4):451-459. doi: 10.1002/humu.23175. Epub 2017 Feb 7.

PMID:
28074573
14.

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. 2005;50(4):192-202. Epub 2005 Apr 15.

PMID:
15834506
15.

Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.

Stewart RA, Sanda T, Widlund HR, Zhu S, Swanson KD, Hurley AD, Bentires-Alj M, Fisher DE, Kontaridis MI, Look AT, Neel BG.

Dev Cell. 2010 May 18;18(5):750-62. doi: 10.1016/j.devcel.2010.03.009.

16.

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

Noda S, Takahashi A, Hayashi T, Tanuma S, Hatakeyama M.

Biochem Biophys Res Commun. 2016 Jan 22;469(4):1133-9. doi: 10.1016/j.bbrc.2015.12.117. Epub 2015 Dec 29.

PMID:
26742426
17.

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. 2012 Mar 13;109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27.

18.

Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects.

Jopling C, van Geemen D, den Hertog J.

PLoS Genet. 2007 Dec;3(12):e225.

19.

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. 2001 Dec;29(4):465-8. Erratum in: Nat Genet 2002 Jan;30(1):123. Nat Genet 2001 Dec;29(4):491.

PMID:
11704759
20.

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. 2009 Jan 9;284(2):913-20. doi: 10.1074/jbc.M804129200. Epub 2008 Nov 13.

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