K
Karine Perlemoine
Researcher at University of Paris
Publications - 52
Citations - 3287
Karine Perlemoine is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 24, co-authored 35 publications receiving 2795 citations. Previous affiliations of Karine Perlemoine include Paris Descartes University & French Institute of Health and Medical Research.
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Journal ArticleDOI
Integrated genomic characterization of adrenocortical carcinoma
Guillaume Assié,Eric Letouzé,Martin Fassnacht,Anne Jouinot,W. Luscap,Olivia Barreau,H. Omeiri,S. Rodriguez,Karine Perlemoine,Fernande René-Corail,Nabila Elarouci,Silviu Sbiera,Matthias Kroiss,Bruno Allolio,Jens Waldmann,Marcus Quinkler,Massimo Mannelli,Franco Mantero,Thomas G. Papathomas,Ronald R. de Krijger,Antoine Tabarin,Véronique Kerlan,Eric Baudin,Frédérique Tissier,Bertrand Dousset,Lionel Groussin,Laurence Amar,Eric Clauser,Xavier Bertagna,Bruno Ragazzon,Felix Beuschlein,Rossella Libé,Aurélien de Reyniès,Jérôme Bertherat +33 more
TL;DR: Aggressive and indolent ACCs correspond to two distinct molecular entities driven by different oncogenic alterations, which are validated in an independent cohort of 77 ACCs.
Journal ArticleDOI
Mutations of β-Catenin in Adrenocortical Tumors: Activation of the Wnt Signaling Pathway Is a Frequent Event in both Benign and Malignant Adrenocortical Tumors
Frédérique Tissier,Catherine Cavard,Lionel Groussin,Karine Perlemoine,Gwladys Fumey,Anne-Marie Hagnere,Fernande René-Corail,E. Jullian,Christine Gicquel,Xavier Bertagna,Marie-Cécile Vacher-Lavenu,Christine Perret,Jérôme Bertherat +12 more
TL;DR: Functional studies showed that the activating Ser45 beta-catenin mutation found in the adrenocortical cancer H295R cell line leads to constitutive activation of T-cell factor-dependent transcription, the first molecular defect to be reported with the same prevalence in both benign and malignant adrenOCortical tumors.
Journal ArticleDOI
ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome
Guillaume Assié,Rossella Libé,Stéphanie Espiard,Marthe Rizk-Rabin,Anne Guimier,W. Luscap,Olivia Barreau,Lucile Lefèvre,Mathilde Sibony,Laurence Guignat,Stéphanie Rodriguez,Karine Perlemoine,Fernande René-Corail,Franck Letourneur,Bilal Trabulsi,Alix Poussier,Nathalie Chabbert-Buffet,Françoise Borson-Chazot,Lionel Groussin,Xavier Bertagna,Constantine A. Stratakis,Bruno Ragazzon,Jérôme Bertherat +22 more
TL;DR: In this paper, the effects of armadillo repeat containing 5 (ARMC5) inactivation and overexpression were tested in cell-culture models and the most frequent somatic chromosome alteration was loss of heterozygosity at 16p (in 8 of 33 patients for whom data were available [24%]).
Journal Article
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity
Jérôme Bertherat,Lionel Groussin,Fabiano Sandrini,Ludmila Matyakhina,Thalia Bei,Sotirios Stergiopoulos,Theocharis Papageorgiou,Isabelle Bourdeau,Lawrence S. Kirschner,Caroline Vincent-Dejean,Karine Perlemoine,Christine Gicquel,Xavier Bertagna,Constantine A. Stratakis +13 more
TL;DR: It is concluded that somatic allelic losses of the 17q22-24 region, PRKAR1A-inactivating mutations or down-regulation, and corresponding PKA activity changes are present in at least some sporadic adrenocortical tumors, especially those with a PPNAD-like clinical presentation of CS.
Journal ArticleDOI
Mutations of the PRKAR1A Gene in Cushing's Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease
Lionel Groussin,E. Jullian,Karine Perlemoine,Albert Louvel,Bruno Leheup,Jean Pierre Luton,Xavier Bertagna,Jérôme Bertherat +7 more
TL;DR: Genetic analysis can be of help to the clinician in the diagnosis of this difficult form of adrenal Cushing's syndrome, and the wild-type allele can be inactivated by somatic mutations, consistent with the hypothesis of the gene being a tumor suppressor gene.