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 *

143 related articles for article (PubMed ID: 32499600)

  • 1. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
    Gripp KW; Baker L; Robbins KM; Stabley DL; Bellus GA; Kolbe V; Nauth T; Rosenberger G
    Eur J Hum Genet; 2020 Nov; 28(11):1548-1554. PubMed ID: 32499600
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
    Gremer L; De Luca A; Merbitz-Zahradnik T; Dallapiccola B; Morlot S; Tartaglia M; Kutsche K; Ahmadian MR; Rosenberger G
    Hum Mol Genet; 2010 Mar; 19(5):790-802. PubMed ID: 19995790
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
    Nagai K; Niihori T; Okamoto N; Kondo A; Suga K; Ohhira T; Hayabuchi Y; Homma Y; Nakagawa R; Ifuku T; Abe T; Mizuguchi T; Matsumoto N; Aoki Y
    Hum Mutat; 2022 Jan; 43(1):3-15. PubMed ID: 34618388
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
    Lindsey-Temple S; Edwards M; Rickassel V; Nauth T; Rosenberger G
    Eur J Hum Genet; 2022 Sep; 30(9):1088-1093. PubMed ID: 35764878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
    Frey T; Ivanovski I; Bahr A; Zweier M; Laube J; Luchsinger I; Steindl K; Rauch A
    Am J Med Genet A; 2023 Aug; 191(8):2074-2082. PubMed ID: 37194190
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
    Chiu AT; Leung GK; Chu YW; Gripp KW; Chung BH
    Am J Med Genet A; 2017 Apr; 173(4):1109-1114. PubMed ID: 28328122
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
    Hiippala A; Vasilescu C; Tallila J; Alastalo TP; Paetau A; Tyni T; Suomalainen A; Euro L; Ojala T
    Am J Med Genet A; 2016 Jun; 170(6):1433-8. PubMed ID: 26888048
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.
    Qian W; Zhang M; Huang H; Chen Y; Park G; Zeng N; Li Y; Lu Q; Luo D
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1690. PubMed ID: 33932139
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
    Hartung AM; Swensen J; Uriz IE; Lapin M; Kristjansdottir K; Petersen US; Bang JM; Guerra B; Andersen HS; Dobrowolski SF; Carey JC; Yu P; Vaughn C; Calhoun A; Larsen MR; Dyrskjøt L; Stevenson DA; Andresen BS
    PLoS Genet; 2016 May; 12(5):e1006039. PubMed ID: 27195699
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Craniofacial and dental development in Costello syndrome.
    Goodwin AF; Oberoi S; Landan M; Charles C; Massie JC; Fairley C; Rauen KA; Klein OD
    Am J Med Genet A; 2014 Jun; 164A(6):1425-30. PubMed ID: 24668879
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.
    Goodwin AF; Tidyman WE; Jheon AH; Sharir A; Zheng X; Charles C; Fagin JA; McMahon M; Diekwisch TG; Ganss B; Rauen KA; Klein OD
    Hum Mol Genet; 2014 Feb; 23(3):682-92. PubMed ID: 24057668
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
    Gripp KW; Hopkins E; Sol-Church K; Stabley DL; Axelrad ME; Doyle D; Dobyns WB; Hudson C; Johnson J; Tenconi R; Graham GE; Sousa AB; Heller R; Piccione M; Corsello G; Herman GE; Tartaglia M; Lin AE
    Am J Med Genet A; 2011 Apr; 155A(4):706-16. PubMed ID: 21438134
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.