Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production

Wu X, Azizan EAB*, Goodchild E*, Garg S*, Hagiyama M*, Cabrera CP*, Fernandes-Rosa FL*, Boulkroun S*, Kuan JL, Tiang Z, David A, Murakami M, Mein CA, Wozniak E, Zhao W, Marker A, Buss F, Saleeb RS, Salsbury J, Tezuka Y, Satoh F, Oki K, Udager AM, Cohen DL, Wachtel H, King PJ, Drake WM, Gurnell M, Ceral J, Ryska A, Mustangin M, Wong YP, Tan GC, Solar M, Reincke M, Rainey WE, Foo RS, Takaoka Y, Murray SA, Zennaro MC*, Beuschlein F*, Ito A*, Brown MJ*. *Equal contribution

Nature Genetics. 2023 Jun;55(6):1009-1021.

Machine learning for classification of hypertension subtypes using multi-omics: A multi-centre, retrospective, data-driven study

Reel PS, Reel S, van Kralingen JC, Langton K, Lang K, Erlic Z, Larsen CK, Amar L, Pamporaki C, Mulatero P, Blanchard A, Kabat M, Robertson S, MacKenzie SM, Taylor AE, Peitzsch M, Ceccato F, Scaroni C, Reincke M, Kroiss M, Dennedy MC, Pecori A, Monticone S, Deinum J, Rossi GP, Lenzini L, McClure JD, Nind T, Riddell A, Stell A, Cole C, Sudano I, Prehn C, Adamski J, Gimenez-Roqueplo AP, Assié G, Arlt W, Beuschlein F, Eisenhofer G, Davies E, Zennaro MC*, Jefferson E*. *Equal contribution

EBioMedicine. 2022 Oct;84:104276.

Identification of risk loci for primary aldosteronism in genome-wide association studies

Le Floch E*, Cosentino T,* Larsen CK, Beuschlein F, Reincke M, Amar L, Rossi GP, De Sousa K, Baron S, Chantalat S, Saintpierre B, Lenzini L, Frouin A, Giscos-Douriez I, Ferey M, Abdellatif AB, Meatchi T, Empana JP, Jouven X, Gieger C, Waldenberger M, Peters A, Cusi D, Salvi E, Meneton P, Touvier M, Deschasaux M, Druesne-Pecollo N, Boulkroun S, Fernandes-Rosa FL, Deleuze JF, Jeunemaitre X, Zennaro MC. *Equal contribution

Nature Communications. 2022 Sep 3;13(1):5198.

Colocalization of Wnt/β-Catenin and ACTH Signaling Pathways and Paracrine Regulation in Aldosterone-producing Adenoma

De Sousa K*, Abdellatif AB*, Giscos-Douriez I, Meatchi T, Amar L, Fernandes-Rosa FL, Boulkroun S, Zennaro MC. *Equal contribution

Journal of Clinical Endocrinology and Metabolism. 2022 Jan 18;107(2):419-434.

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause

Zhou J*, Azizan EAB*, Cabrera CP*, Fernandes-Rosa FL*, Boulkroun S*, Argentesi G, Cottrell E, Amar L, Wu X, O’Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL*, Zennaro MC*, Brown MJ*. *Equal contribution

Nature Genetics 2021 Sep;53(9):1360-1372.

Somatic mutations in adrenals from patients with primary aldosteronism not cured after adrenalectomy suggest common pathogenic mechanisms between unilateral and bilateral disease

Hacini I, De Sousa K, Boulkroun S, Meatchi T, Amar L, Zennaro MC*, Fernandes-Rosa FL*. *Equal contribution

European Journal of Endocrinology. 2021 Aug 3;185(3):405-412.

Genetic, cellular, and molecular heterogeneity in adrenals with aldosterone-producing adenoma

De Sousa K, Boulkroun S, Baron S, Nanba K, Wack M, Rainey WE, Rocha A, Giscos-Douriez I, Meatchi T, Amar L, Travers S, Fernandes-Rosa FL*, Zennaro MC*. *Equal contribution

Hypertension. 2020 Apr;75(4):1034-1044.

Retinoic acid receptor α as a novel contributor to adrenal cortex structure and function through interactions with Wnt and Vegfa signalling

El Zein RM, Soria AH, Golib Dzib JF, Rickard AJ, Fernandes-Rosa FL, Samson-Couterie B, Giscos-Douriez I, Rocha A, Poglitsch M, Gomez-Sanchez CE, Amar L, Ghyselinck NB, Benecke A, Zennaro MC, Boulkroun S.

Scientific Reports. 2019 Oct 11;9(1):14677.

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Selected review articles

New advances in endocrine hypertension: from genes to biomarkers

Fernandes-Rosa FL*, Boulkroun S*, Fedlaoui B, Hureaux M, Travers-Allard S, Drossart T, Favier J, Zennaro MC. *Equal contribution

Kidney International. 2023 Mar;103(3):485-500.

Vascular and hormonal interactions in the adrenal gland

Abdellatif AB, Fernandes-Rosa FL, Boulkroun S, Zennaro MC.

Frontiers in Endocrinology (Lausanne). 2022 Nov 24;13:995228.

Pathogenesis and treatment of primary aldosteronism

Zennaro MC, Boulkroun S, Fernandes-Rosa FL.

Nature Reviews Endocrinology. 2020 Oct;16(10):578-589.

Genetic and genomic mechanisms of primary aldosteronism

Fernandes-Rosa FL, Boulkroun S, Zennaro MC.

Trends in Molecular  Medicine. 2020 Sep;26(9):819-832.

Genetic causes of functional adrenocortical adenomas

Zennaro MC, Boulkroun S, Fernandes-Rosa F.

Endocrine Reviews. 2017 Dec 1;38(6):516-537.