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6. Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. Schreiber J; Grimbergen LA; Overwater I; Vaart TV; Stedehouder J; Schuhmacher AJ; Guerra C; Kushner SA; Jaarsma D; Elgersma Y Sci Rep; 2017 Apr; 7(1):1256. PubMed ID: 28455524 [TBL] [Abstract][Full Text] [Related]
7. Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. Wey M; Lee J; Jeong SS; Kim J; Heo J Biochemistry; 2013 Nov; 52(47):8465-79. PubMed ID: 24224811 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. García-Cruz R; Camats M; Calin GA; Liu CG; Volinia S; Taccioli C; Croce CM; Bach-Elias M BMC Med Genet; 2015 Jul; 16():46. PubMed ID: 26138095 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
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15. 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]
16. 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]
17. Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species. Carpentieri G; Leoni C; Pietraforte D; Cecchetti S; Iorio E; Belardo A; Pietrucci D; Di Nottia M; Pajalunga D; Megiorni F; Mercurio L; Tatti M; Camero S; Marchese C; Rizza T; Tirelli V; Onesimo R; Carrozzo R; Rinalducci S; Chillemi G; Zampino G; Tartaglia M; Flex E Hum Mol Genet; 2022 Feb; 31(4):561-575. PubMed ID: 34508588 [TBL] [Abstract][Full Text] [Related]
18. MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model. Tidyman WE; Goodwin AF; Maeda Y; Klein OD; Rauen KA Dis Model Mech; 2022 Feb; 15(2):. PubMed ID: 34553752 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]