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Items: 1 to 20 of 290

1.

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

Bonetti M, Paardekooper Overman J, Tessadori F, Noël E, Bakkers J, den Hertog J.

Development. 2014 May;141(9):1961-70. doi: 10.1242/dev.106310. Epub 2014 Apr 9.

2.

Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome.

Paardekooper Overman J, Preisinger C, Prummel K, Bonetti M, Giansanti P, Heck A, den Hertog J.

PLoS One. 2014 Sep 3;9(9):e106682. doi: 10.1371/journal.pone.0106682. eCollection 2014.

3.

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.

4.

PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.

Paardekooper Overman J, Yi JS, Bonetti M, Soulsby M, Preisinger C, Stokes MP, Hui L, Silva JC, Overvoorde J, Giansanti P, Heck AJ, Kontaridis MI, den Hertog J, Bennett AM.

Mol Cell Biol. 2014 Aug;34(15):2874-89. doi: 10.1128/MCB.00135-14. Epub 2014 May 27.

5.

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. 2006 Mar 10;281(10):6785-92. Epub 2005 Dec 23.

6.

PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

Lauriol J, Kontaridis MI.

Trends Cardiovasc Med. 2011 May;21(4):97-104. doi: 10.1016/j.tcm.2012.03.006. Review.

7.

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
8.

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Runtuwene V, van Eekelen M, Overvoorde J, Rehmann H, Yntema HG, Nillesen WM, van Haeringen A, van der Burgt I, Burgering B, den Hertog J.

Dis Model Mech. 2011 May;4(3):393-9. doi: 10.1242/dmm.007112. Epub 2011 Jan 24.

9.

New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling.

Schramm C, Edwards MA, Krenz M.

J Biol Chem. 2013 Jun 21;288(25):18335-44. doi: 10.1074/jbc.M113.483800. Epub 2013 May 14.

10.

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.

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.

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.

13.

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.

14.

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.

15.

Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways.

Kontaridis MI, Yang W, Bence KK, Cullen D, Wang B, Bodyak N, Ke Q, Hinek A, Kang PM, Liao R, Neel BG.

Circulation. 2008 Mar 18;117(11):1423-35. doi: 10.1161/CIRCULATIONAHA.107.728865. Epub 2008 Mar 3. Erratum in: Circulation.2008 Apr 15;117(15) e314.

16.

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.

Schramm C, Fine DM, Edwards MA, Reeb AN, Krenz M.

Am J Physiol Heart Circ Physiol. 2012 Jan 1;302(1):H231-43. doi: 10.1152/ajpheart.00665.2011. Epub 2011 Nov 4.

17.

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.

Tajan M, Batut A, Cadoudal T, Deleruyelle S, Le Gonidec S, Saint Laurent C, Vomscheid M, Wanecq E, Tréguer K, De Rocca Serra-Nédélec A, Vinel C, Marques MA, Pozzo J, Kunduzova O, Salles JP, Tauber M, Raynal P, Cavé H, Edouard T, Valet P, Yart A.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4494-503. doi: 10.1073/pnas.1406107111. Epub 2014 Oct 6.

18.

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

Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, Yang W, Pao LI, Gilliland DG, Epstein JA, Neel BG.

Nat Med. 2004 Aug;10(8):849-57. Epub 2004 Jul 25.

PMID:
15273746
19.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
20.

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.

Nakamura T, Colbert M, Krenz M, Molkentin JD, Hahn HS, Dorn GW 2nd, Robbins J.

J Clin Invest. 2007 Aug;117(8):2123-32.

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