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5. 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]
6. 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]
7. Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Nandi S; Chennappan S; Andrasch Y; Fidan M; Engler M; Ahmad M; Tuckermann JP; Zenker M; Cirstea IC Front Cell Dev Biol; 2022; 10():1000575. PubMed ID: 36330334 [TBL] [Abstract][Full Text] [Related]
8. Studying Metabolic Abnormalities in the Costello Syndrome HRAS G12V Mouse Model: Isolation of Mouse Embryonic Fibroblasts and Their In Vitro Adipocyte Differentiation. Fidan M; Chennappan S; Cirstea IC Methods Mol Biol; 2021; 2262():397-409. PubMed ID: 33977491 [TBL] [Abstract][Full Text] [Related]
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12. 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]
13. 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]
14. 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]
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19. 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]
20. 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] [Next] [New Search]