Fabio L Fernandes-Rosa
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Explore the profile of Fabio L Fernandes-Rosa including associated specialties, affiliations and a list of published articles.
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24
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450
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Recent Articles
11.
De Sousa K, Boulkroun S, Baron S, Nanba K, Wack M, Rainey W, et al.
Hypertension
. 2020 Mar;
75(4):1034-1044.
PMID: 32114847
Aldosterone-producing adenoma (APA) cause primary aldosteronism-the most frequent form of secondary hypertension. Somatic mutations in genes coding for ion channels and ATPases are found in APA and in aldosterone-producing cell...
12.
Goppner C, Orozco I, Hoegg-Beiler M, Soria A, Hubner C, Fernandes-Rosa F, et al.
Nat Commun
. 2019 Oct;
10(1):4678.
PMID: 31615979
Human primary aldosteronism (PA) can be caused by mutations in several ion channel genes but mouse models replicating this condition are lacking. We now show that almost all known PA-associated...
13.
El Zein R, Soria A, Golib Dzib J, Rickard A, Fernandes-Rosa F, Samson-Couterie B, et al.
Sci Rep
. 2019 Oct;
9(1):14677.
PMID: 31605007
Primary aldosteronism (PA) is the most frequent form of secondary arterial hypertension. Mutations in different genes increase aldosterone production in PA, but additional mechanisms may contribute to increased cell proliferation...
14.
Zennaro M, Fernandes-Rosa F, Boulkroun S
Curr Opin Endocrinol Diabetes Obes
. 2018 Feb;
25(3):147-154.
PMID: 29432258
Purpose Of Review: Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic...
15.
Fernandes-Rosa F, Daniil G, Orozco I, Goppner C, El Zein R, Jain V, et al.
Nat Genet
. 2018 Feb;
50(3):355-361.
PMID: 29403012
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp...
16.
Daniil G, Fernandes-Rosa F, Chemin J, Blesneac I, Beltrand J, Polak M, et al.
EBioMedicine
. 2016 Oct;
13:225-236.
PMID: 27729216
Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). A...
17.
Paulo S, Fernandes-Rosa F, Turatti W, Coeli-Lacchini F, Martinelli Jr C, Nakiri G, et al.
Clin Endocrinol (Oxf)
. 2014 Jul;
82(4):562-9.
PMID: 25056824
Context And Objective: Sonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation. GLI2 variants have been found in patients...
18.
Martins C, Fernandes-Rosa F, Espineira A, Molina de Souza R, de Castro M, Barbieri M, et al.
Growth Horm IGF Res
. 2014 Jun;
24(4):123-9.
PMID: 24893921
Context: The GHR polymorphisms contribution to the interindividual variability in prenatal and postnatal growth as well as to metabolic traits is controversial. Objective: The aim of this study is to...
19.
Hubert E, Teissier R, Fernandes-Rosa F, Fay M, Rafestin-Oblin M, Jeunemaitre X, et al.
J Am Soc Nephrol
. 2011 Sep;
22(11):1997-2003.
PMID: 21903996
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a...
20.
Zennaro M, Hubert E, Fernandes-Rosa F
Mol Cell Endocrinol
. 2011 Jun;
350(2):206-15.
PMID: 21664233
Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron. Loss-of-function mutations in two key components of the aldosterone response, the mineralocorticoid receptor...