BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 24169525)

  • 1. HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.
    Beukers W; Hercegovac A; Zwarthoff EC
    Eur J Hum Genet; 2014 Jun; 22(6):837-9. PubMed ID: 24169525
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
    Gripp KW; Sol-Church K; Smpokou P; Graham GE; Stevenson DA; Hanson H; Viskochil DH; Baker LC; Russo B; Gardner N; Stabley DL; Kolbe V; Rosenberger G
    Am J Med Genet A; 2015 Sep; 167A(9):2085-97. PubMed ID: 25914166
    [TBL] [Abstract][Full Text] [Related]  

  • 3. FGFR3, HRAS, KRAS, NRAS and PIK3CA mutations in bladder cancer and their potential as biomarkers for surveillance and therapy.
    Kompier LC; Lurkin I; van der Aa MN; van Rhijn BW; van der Kwast TH; Zwarthoff EC
    PLoS One; 2010 Nov; 5(11):e13821. PubMed ID: 21072204
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.
    Liang J; Guo Y; Lu Z; Yu H; Wu L; Yao Z
    J Dermatol; 2022 Jan; 49(1):161-164. PubMed ID: 34601768
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
    Bertola D; Buscarilli M; Stabley DL; Baker L; Doyle D; Bartholomew DW; Sol-Church K; Gripp KW
    Am J Med Genet A; 2017 May; 173(5):1309-1318. PubMed ID: 28371260
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
    Lorenz S; Lissewski C; Simsek-Kiper PO; Alanay Y; Boduroglu K; Zenker M; Rosenberger G
    Hum Mol Genet; 2013 Apr; 22(8):1643-53. PubMed ID: 23335589
    [TBL] [Abstract][Full Text] [Related]  

  • 7. HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
    Niihori T; Aoki Y; Okamoto N; Kurosawa K; Ohashi H; Mizuno S; Kawame H; Inazawa J; Ohura T; Arai H; Nabatame S; Kikuchi K; Kuroki Y; Miura M; Tanaka T; Ohtake A; Omori I; Ihara K; Mabe H; Watanabe K; Niijima S; Okano E; Numabe H; Matsubara Y
    J Hum Genet; 2011 Oct; 56(10):707-15. PubMed ID: 21850009
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
    Gripp KW; Kolbe V; Brandenstein LI; Rosenberger G
    Clin Genet; 2017 Sep; 92(3):332-337. PubMed ID: 28139825
    [TBL] [Abstract][Full Text] [Related]  

  • 9. C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
    Klüppel M; Samavarchi-Tehrani P; Liu K; Wrana JL; Hinek A
    Eur J Hum Genet; 2012 Aug; 20(8):870-7. PubMed ID: 22317973
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
    Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.
    Xu F; Wang HJ; Lin ZM; Yu B
    Clin Exp Dermatol; 2015 Jun; 40(4):404-7. PubMed ID: 25677562
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The mutational spectrum of HRAS, KRAS, NRAS and FGFR3 genes in bladder cancer.
    Ouerhani S; Elgaaied AB
    Cancer Biomark; 2011-2012; 10(6):259-66. PubMed ID: 22820081
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.
    Leoni C; Paradiso FV; Foschi N; Tedesco M; Pierconti F; Silvaroli S; Diego MD; Birritella L; Pantaleoni F; Rendeli C; Onesimo R; Viscogliosi G; Bassi P; Nanni L; Genuardi M; Tartaglia M; Zampino G
    Clin Genet; 2022 Apr; 101(4):454-458. PubMed ID: 35038173
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Keratinocytic epidermal nevi are associated with mosaic RAS mutations.
    Hafner C; Toll A; Gantner S; Mauerer A; Lurkin I; Acquadro F; Fernández-Casado A; Zwarthoff EC; Dietmaier W; Baselga E; Parera E; Vicente A; Casanova A; Cigudosa J; Mentzel T; Pujol RM; Landthaler M; Real FX
    J Med Genet; 2012 Apr; 49(4):249-53. PubMed ID: 22499344
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
    Girisha KM; Lewis LE; Phadke SR; Kutsche K
    Am J Med Genet A; 2010 Nov; 152A(11):2861-4. PubMed ID: 20979192
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
    Giannoulatou E; McVean G; Taylor IB; McGowan SJ; Maher GJ; Iqbal Z; Pfeifer SP; Turner I; Burkitt Wright EM; Shorto J; Itani A; Turner K; Gregory L; Buck D; Rajpert-De Meyts E; Looijenga LH; Kerr B; Wilkie AO; Goriely A
    Proc Natl Acad Sci U S A; 2013 Dec; 110(50):20152-7. PubMed ID: 24259709
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
    Quélin C; Loget P; Rozel C; D'Hervé D; Fradin M; Demurger F; Odent S; Pasquier L; Cavé H; Marcorelles P
    Eur J Med Genet; 2017 Jul; 60(7):395-398. PubMed ID: 28455154
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
    Robbins KM; Stabley DL; Holbrook J; Sahraoui R; Sadreameli A; Conard K; Baker L; Gripp KW; Sol-Church K
    Am J Med Genet A; 2016 Dec; 170(12):3197-3206. PubMed ID: 27589201
    [TBL] [Abstract][Full Text] [Related]  

  • 19. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
    Estep AL; Tidyman WE; Teitell MA; Cotter PD; Rauen KA
    Am J Med Genet A; 2006 Jan; 140(1):8-16. PubMed ID: 16372351
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
    Rosenberger G; Meien S; Kutsche K
    Hum Mutat; 2009 Mar; 30(3):352-62. PubMed ID: 19035362
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.