F
Fabio L. Fernandes-Rosa
Researcher at University of Paris
Publications - 47
Citations - 1363
Fabio L. Fernandes-Rosa is an academic researcher from University of Paris. The author has contributed to research in topics: Aldosterone & Primary aldosteronism. The author has an hindex of 18, co-authored 34 publications receiving 1031 citations. Previous affiliations of Fabio L. Fernandes-Rosa include Paris Descartes University & French Institute of Health and Medical Research.
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Journal ArticleDOI
Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma
Fabio L. Fernandes-Rosa,Tracy Ann Williams,Anna Riester,Olivier Steichen,Felix Beuschlein,Sheerazed Boulkroun,Tim M. Strom,Silvia Monticone,Laurence Amar,Tchao Meatchi,Franco Mantero,Maria-Verena Cicala,Marcus Quinkler,Francesco Fallo,Bruno Allolio,Giampaolo Bernini,Mauro Maccario,Gilberta Giacchetti,Xavier Jeunemaitre,Paolo Mulatero,Martin Reincke,Maria-Christina Zennaro +21 more
TL;DR: Investigation of the prevalence of somatic mutations in aldosterone-producing adenomas in unselected patients with APA found that young women with APAs are more likely to be KCNJ5 mutation carriers; identification of specific characteristics or surrogate biomarkers of mutation status may lead to targeted treatment options.
Journal ArticleDOI
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
Fabio L. Fernandes-Rosa,Fabio L. Fernandes-Rosa,Georgios Daniil,Georgios Daniil,Ian J. Orozco,Corinna Göppner,Rami M El Zein,Rami M El Zein,Vandana Jain,Sheerazed Boulkroun,Sheerazed Boulkroun,Xavier Jeunemaitre,Xavier Jeunemaitre,Laurence Amar,Laurence Amar,Hervé Lefebvre,Thomas Schwarzmayr,Tim M. Strom,Thomas J. Jentsch,Maria-Christina Zennaro,Maria-Christina Zennaro +20 more
TL;DR: The data indicate that CLCN2 mutations cause primary aldosteronism, and highlight the important role of chloride in aldosterone biosynthesis and identify ClC-2 as the foremost chloride conductor of resting glomerulosa cells.
Journal ArticleDOI
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
Georgios Daniil,Georgios Daniil,Fabio L. Fernandes-Rosa,Fabio L. Fernandes-Rosa,Jean Chemin,Iulia Blesneac,Jacques Beltrand,Michel Polak,Xavier Jeunemaitre,Xavier Jeunemaitre,Sheerazed Boulkroun,Sheerazed Boulkroun,Laurence Amar,Laurence Amar,Tim M. Strom,Philippe Lory,Maria-Christina Zennaro,Maria-Christina Zennaro +17 more
TL;DR: Identification of CACNA1H mutations associated with early onset PA, FH, and APA suggests that CAC NA1H might be a susceptibility gene predisposing to PA with different phenotypic presentations, opening new perspectives for genetic diagnosis and management of patients with PA.
Journal ArticleDOI
Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma
Kelly De Sousa,Sheerazed Boulkroun,Stéphanie Baron,Kazutaka Nanba,Maxime Wack,William E. Rainey,Angélique Rocha,Isabelle Giscos-Douriez,Tchao Meatchi,Laurence Amar,Simon Travers,Fabio L. Fernandes-Rosa,Maria-Christina Zennaro +12 more
TL;DR: Investigation of genetic, cellular, and molecular heterogeneity of different aldosterone-producing structures in adrenals with APA suggests complex mechanisms underlying APA development.
Journal ArticleDOI
Genetic Causes of Functional Adrenocortical Adenomas
Maria-Christina Zennaro,Maria-Christina Zennaro,Sheerazed Boulkroun,Sheerazed Boulkroun,Fabio L. Fernandes-Rosa,Fabio L. Fernandes-Rosa +5 more
TL;DR: The Wnt/β-Catenin pathway appears to play an important role in adrenal tumorigenesis, because β-catenin mutations have been identified in both aldosterone- and cortisol-producing adenomas, raising the possibility that the two conditions share a certain degree of genetic susceptibility.