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Items: 1 to 20 of 80

1.

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

Marin TM, Keith K, Davies B, Conner DA, Guha P, Kalaitzidis D, Wu X, Lauriol J, Wang B, Bauer M, Bronson R, Franchini KG, Neel BG, Kontaridis MI.

J Clin Invest. 2011 Mar;121(3):1026-43. doi: 10.1172/JCI44972. Epub 2011 Feb 21.

2.

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

Chen PC, Wakimoto H, Conner D, Araki T, Yuan T, Roberts A, Seidman C, Bronson R, Neel B, Seidman JG, Kucherlapati R.

J Clin Invest. 2010 Dec;120(12):4353-65. doi: 10.1172/JCI43910.

3.

The face of Noonan syndrome: Does phenotype predict genotype.

Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M.

Am J Med Genet A. 2010 Aug;152A(8):1960-6. doi: 10.1002/ajmg.a.33518.

4.

Cardiac fibroblasts are essential for the adaptive response of the murine heart to pressure overload.

Takeda N, Manabe I, Uchino Y, Eguchi K, Matsumoto S, Nishimura S, Shindo T, Sano M, Otsu K, Snider P, Conway SJ, Nagai R.

J Clin Invest. 2010 Jan;120(1):254-65. doi: 10.1172/JCI40295. Epub 2009 Dec 21.

5.

Malignant diseases in Noonan syndrome and related disorders.

Hasle H.

Horm Res. 2009 Dec;72 Suppl 2:8-14. doi: 10.1159/000243773. Epub 2009 Dec 22. Review.

PMID:
20029231
6.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T.

Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183.

7.

Molecular targets and regulators of cardiac hypertrophy.

Rohini A, Agrawal N, Koyani CN, Singh R.

Pharmacol Res. 2010 Apr;61(4):269-80. doi: 10.1016/j.phrs.2009.11.012. Epub 2009 Dec 5. Review.

PMID:
19969085
8.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M.

Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6.

9.

Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations.

Nakamura T, Gulick J, Pratt R, Robbins J.

Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41. doi: 10.1073/pnas.0903302106. Epub 2009 Aug 24.

10.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.

Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16.

11.

Cardiac hypertrophy: targeting Raf/MEK/ERK1/2-signaling.

Lorenz K, Schmitt JP, Vidal M, Lohse MJ.

Int J Biochem Cell Biol. 2009 Dec;41(12):2351-5. doi: 10.1016/j.biocel.2009.08.002. Epub 2009 Aug 8. Review.

PMID:
19666137
12.

Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction.

Xu J, Ismat FA, Wang T, Lu MM, Antonucci N, Epstein JA.

Circ Res. 2009 Jul 31;105(3):304-11. doi: 10.1161/CIRCRESAHA.109.201509. Epub 2009 Jul 2.

13.

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE, Rauen KA.

Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi: 10.1016/j.gde.2009.04.001. Epub 2009 May 19. Review.

14.

Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene.

Chen X, Mitsutake N, LaPerle K, Akeno N, Zanzonico P, Longo VA, Mitsutake S, Kimura ET, Geiger H, Santos E, Wendel HG, Franco A, Knauf JA, Fagin JA.

Proc Natl Acad Sci U S A. 2009 May 12;106(19):7979-84. doi: 10.1073/pnas.0900343106. Epub 2009 Apr 29.

15.

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. 2009 Mar 24;106(12):4736-41. doi: 10.1073/pnas.0810053106. Epub 2009 Feb 27.

16.

Cardiac fibroblasts regulate myocardial proliferation through beta1 integrin signaling.

Ieda M, Tsuchihashi T, Ivey KN, Ross RS, Hong TT, Shaw RM, Srivastava D.

Dev Cell. 2009 Feb;16(2):233-44. doi: 10.1016/j.devcel.2008.12.007.

17.

Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis.

Chan G, Kalaitzidis D, Usenko T, Kutok JL, Yang W, Mohi MG, Neel BG.

Blood. 2009 Apr 30;113(18):4414-24. doi: 10.1182/blood-2008-10-182626. Epub 2009 Jan 29.

18.

MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblasts.

Thum T, Gross C, Fiedler J, Fischer T, Kissler S, Bussen M, Galuppo P, Just S, Rottbauer W, Frantz S, Castoldi M, Soutschek J, Koteliansky V, Rosenwald A, Basson MA, Licht JD, Pena JT, Rouhanifard SH, Muckenthaler MU, Tuschl T, Martin GR, Bauersachs J, Engelhardt S.

Nature. 2008 Dec 18;456(7224):980-4. doi: 10.1038/nature07511. Epub 2008 Nov 30.

PMID:
19043405
19.

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. 2008 Dec 2;105(48):18930-5. doi: 10.1073/pnas.0806556105. Epub 2008 Nov 18.

20.

The discovery of the benzhydroxamate MEK inhibitors CI-1040 and PD 0325901.

Barrett SD, Bridges AJ, Dudley DT, Saltiel AR, Fergus JH, Flamme CM, Delaney AM, Kaufman M, LePage S, Leopold WR, Przybranowski SA, Sebolt-Leopold J, Van Becelaere K, Doherty AM, Kennedy RM, Marston D, Howard WA Jr, Smith Y, Warmus JS, Tecle H.

Bioorg Med Chem Lett. 2008 Dec 15;18(24):6501-4. doi: 10.1016/j.bmcl.2008.10.054. Epub 2008 Oct 15.

PMID:
18952427

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