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Results: 1 to 20 of 155

1.

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.

PMID:
22681964
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
24718990
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
24628801
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
16377799
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
24865967
[PubMed - indexed for MEDLINE]
6.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. Review.

PMID:
16987887
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
21339643
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
24935154
[PubMed - indexed for MEDLINE]
10.

LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.

Ishida H, Kogaki S, Narita J, Ichimori H, Nawa N, Okada Y, Takahashi K, Ozono K.

Am J Physiol Heart Circ Physiol. 2011 Oct;301(4):H1531-9. doi: 10.1152/ajpheart.00216.2011. Epub 2011 Jul 29.

PMID:
21803945
[PubMed - indexed for MEDLINE]
Free Article
11.

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. 2009 Jan 1;18(1):193-201. doi: 10.1093/hmg/ddn336. Epub 2008 Oct 11.

PMID:
18849586
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

Ogata T, Yoshida R.

Pediatr Endocrinol Rev. 2005 Jun;2(4):669-74. Review.

PMID:
16208280
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
18159945
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
15604238
[PubMed - indexed for MEDLINE]
Free Article
15.

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 Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD.

Am J Hum Genet. 2006 Feb;78(2):279-90. Epub 2005 Dec 7.

PMID:
16358218
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M.

Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955.

PMID:
19206169
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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. 2004 Dec;12(12):1069-72.

PMID:
15470362
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
20493809
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.

Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.

PMID:
22420426
[PubMed - indexed for MEDLINE]
20.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS.

Nat Genet. 2007 Jan;39(1):70-4. Epub 2006 Dec 3.

PMID:
17143285
[PubMed - indexed for MEDLINE]
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