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Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J. Buffet A, et al. Cancer Res. 2018 Apr 15;78(8):1914-1922. doi: 10.1158/0008-5472.CAN-17-2463. Epub 2018 Feb 5. Cancer Res. 2018. PMID: 29431636
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334767
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ, Letouzé E, Burnichon N, Buffet A, Disderot PH, Khalifa E, Loriot C, Elarouci N, Morin A, Menara M, Lepoutre-Lussey C, Badoual C, Sibony M, Dousset B, Libé R, Zinzindohoue F, Plouin PF, Bertherat J, Amar L, de Reyniès A, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Nat Commun. 2015 Jan 27;6:6044. doi: 10.1038/ncomms7044. Nat Commun. 2015. PMID: 25625332 Free PMC article.
Deciphering the molecular basis of invasiveness in Sdhb-deficient cells.
Loriot C, Domingues M, Berger A, Menara M, Ruel M, Morin A, Castro-Vega LJ, Letouzé É, Martinelli C, Bemelmans AP, Larue L, Gimenez-Roqueplo AP, Favier J. Loriot C, et al. Oncotarget. 2015 Oct 20;6(32):32955-65. doi: 10.18632/oncotarget.5106. Oncotarget. 2015. PMID: 26460615 Free PMC article.
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Castro-Vega LJ, Kiando SR, Burnichon N, Buffet A, Amar L, Simian C, Berdelou A, Galan P, Schlumberger M, Bouatia-Naji N, Favier J, Bressac-de Paillerets B, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4764-4768. doi: 10.1210/jc.2016-2103. Epub 2016 Sep 28. J Clin Endocrinol Metab. 2016. PMID: 27680874
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Kiando SR, et al. PLoS Genet. 2016 Oct 28;12(10):e1006367. doi: 10.1371/journal.pgen.1006367. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27792790 Free PMC article.
Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma.
Job S, Draskovic I, Burnichon N, Buffet A, Cros J, Lépine C, Venisse A, Robidel E, Verkarre V, Meatchi T, Sibony M, Amar L, Bertherat J, de Reyniès A, Londoño-Vallejo A, Favier J, Castro-Vega LJ, Gimenez-Roqueplo AP. Job S, et al. Among authors: castro vega lj. Clin Cancer Res. 2019 Jan 15;25(2):760-770. doi: 10.1158/1078-0432.CCR-18-0139. Epub 2018 Oct 9. Clin Cancer Res. 2019. PMID: 30301828
27 results