These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 18849586)

  • 1. 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; 18(1):193-201. PubMed ID: 18849586
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
    Oishi K; Gaengel K; Krishnamoorthy S; Kamiya K; Kim IK; Ying H; Weber U; Perkins LA; Tartaglia M; Mlodzik M; Pick L; Gelb BD
    Hum Mol Genet; 2006 Feb; 15(4):543-53. PubMed ID: 16399795
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 281(10):6785-92. PubMed ID: 16377799
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PTPN11/Corkscrew Activates Local Presynaptic Mapk Signaling to Regulate Synapsin, Synaptic Vesicle Pools, and Neurotransmission Strength, with a Dual Requirement in Neurons and Glia.
    Leahy SN; Vita DJ; Broadie K
    J Neurosci; 2024 Apr; 44(17):. PubMed ID: 38471782
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 24718990
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 16358218
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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():10. PubMed ID: 24628801
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
    Gelb BD; Tartaglia M
    Hum Mol Genet; 2006 Oct; 15 Spec No 2():R220-6. PubMed ID: 16987887
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
    Edwards JJ; Martinelli S; Pannone L; Lo IF; Shi L; Edelmann L; Tartaglia M; Luk HM; Gelb BD
    Am J Med Genet A; 2014 Sep; 164A(9):2351-5. PubMed ID: 24891296
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 2005; 50(1):21-25. PubMed ID: 15690106
    [TBL] [Abstract][Full Text] [Related]  

  • 11. LEOPARD syndrome: clinical diagnosis in the first year of life.
    Digilio MC; Sarkozy A; de Zorzi A; Pacileo G; Limongelli G; Mingarelli R; Calabrò R; Marino B; Dallapiccola B
    Am J Med Genet A; 2006 Apr; 140(7):740-6. PubMed ID: 16523510
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 21339643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 469(4):1133-9. PubMed ID: 26742426
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 15470362
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
    Lauriol J; Kontaridis MI
    Trends Cardiovasc Med; 2011 May; 21(4):97-104. PubMed ID: 22681964
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
    Pandit B; Sarkozy A; Pennacchio LA; Carta C; Oishi K; Martinelli S; Pogna EA; Schackwitz W; Ustaszewska A; Landstrom A; Bos JM; Ommen SR; Esposito G; Lepri F; Faul C; Mundel P; López Siguero JP; Tenconi R; Selicorni A; Rossi C; Mazzanti L; Torrente I; Marino B; Digilio MC; Zampino G; Ackerman MJ; Dallapiccola B; Tartaglia M; Gelb BD
    Nat Genet; 2007 Aug; 39(8):1007-12. PubMed ID: 17603483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 17(13):2018-29. PubMed ID: 18372317
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
    Ogata T; Yoshida R
    Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.
    Laux D; Kratz C; Sauerbrey A
    J Pediatr Hematol Oncol; 2008 Aug; 30(8):602-4. PubMed ID: 18799937
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.
    Zheng H; Yu WM; Waclaw RR; Kontaridis MI; Neel BG; Qu CK
    Sci Signal; 2018 Mar; 11(522):. PubMed ID: 29559584
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.