Genomes and Genes
Maria Christina Zennaro
- Mineralocorticoid receptors in the metabolic syndromeMaria Christina Zennaro
INSERM, U970, Paris Cardiovascular Research Center PARCC, 75015 Paris, France
Trends Endocrinol Metab 20:444-51. 2009....
- A network perspective on metabolic inconsistencyNikolaus Sonnenschein
School of Engineering and Science, Jacobs University Bremen, Campus Ring 1, 28759 Bremen, Germany
BMC Syst Biol 6:41. 2012..A network-driven interpretation of gene expression data has the potential of suggesting novel classifiers for pathological cellular states and of contributing to a general theoretical understanding of gene regulation...
- Aldosterone resistance: structural and functional considerations and new perspectivesMaria Christina Zennaro
INSERM U970, Paris Cardiovascular Research Center, Paris, France
Mol Cell Endocrinol 350:206-15. 2012..We will also discuss genotype-phenotype correlations and new clinical and genetic entities that may prove relevant for patient's care in neonates with renal salt losing syndromes and/or failure to thrive...
- KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodelingSheerazed Boulkroun
Institut National de la Sante et de la Recherche Medicale INSERM, U970, Paris Cardiovascular Research Center, Paris, France Université Paris Descartes, Sorbonne Paris Cité, Paris, France
Mol Cell Endocrinol 371:221-7. 2013..The cell composition of APA was not significantly different between groups. These results indicate that KCNJ5 mutations are not correlated with adrenal cortex remodeling in APA...
- Aldosterone-producing adenoma formation in the adrenal cortex involves expression of stem/progenitor cell markersSheerazed Boulkroun
Institut National de la Santé et de la Recherche Médicale Unité 970, PARCC, 56 rue Leblanc, 75015 Paris, France
Endocrinology 152:4753-63. 2011..Our data suggest that both APA and adjacent ZG present characteristics of stem/precursor cells; the reexpression of genes involved in fetal adrenal development could underlie excessive ZG cell proliferation and APA formation...
- Genetics of mineralocorticoid excess: an update for cliniciansMaria Christina Zennaro
INSERM, UMRS_970, Paris Cardiovascular Research Center, 56 rue Leblanc, 75015 Paris, France
Eur J Endocrinol 169:R15-25. 2013..Finally, we outline the cardiovascular, renal, and metabolic consequences of mineralocorticoid excess beyond blood pressure regulation...
- Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutationsBrigitte Escoubet
Assistance Publique Hopitaux de Paris, Hopital Bichat Claude Bernard, Paris, France
Circ Cardiovasc Genet 6:381-90. 2013..We aimed to assess the cardiovascular outcomes in adults carrying NR3C2 mutations...
- Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1Edwige Ludiwyne Hubert
INSERM, U970, Paris Cardiovascular Research Center PARCC, 56, rue Leblanc, 75015 Paris, France
J Am Soc Nephrol 22:1997-2003. 2011..This might prove relevant for patient's care in neonatal salt losing disorders and may affect renal salt handling and blood pressure in the general population...
- Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronismSheerazed Boulkroun
Institut National de la Sante et de la Recherche Medicale, Unité Mixte de Recherche Scientifique 970, Paris Cardiovascular Research Center, Paris, France
Hypertension 59:592-8. 2012..KCNJ5 mutation carriers are more likely to be females; younger age and higher aldosterone levels at diagnosis suggest that KCNJ5 mutations may be associated with a more florid phenotype of primary aldosteronism...
- Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1Fabio L Fernandes-Rosa
Department of Puericulture and Pediatrics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14040 900, Brazil
J Clin Endocrinol Metab 96:E519-27. 2011..Type 1 pseudohypoaldosteronism (PHA1), a primary form of mineralocorticoid resistance, is due to inactivating mutations of the NR3C2 gene, coding for the mineralocorticoid receptor (MR)...
- Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronismPaola Sartorato
Institut National de la Sante et de la Recherche Medicale, Unité 478, Faculte de Medecine Xavier Bichat, 75018 Paris, France
J Clin Endocrinol Metab 88:2508-17. 2003..Their absence in some families underscores the importance of an extensive investigation of the hMR gene and the role of precise diagnostic procedures to allow for identification of other genes potentially involved in the disease...
- Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenomaFábio Luiz Fernandes-Rosa
From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France F L F R, S B, L A, T M, X J, M C Z University Paris Descartes, Sorbonne Paris Cité, Paris, France F L F R, S B, L A, T M, X J, M C Z Service de Génétique F L F R, X J, M C Z, Unité Hypertension artérielle L A, and Service d Anatomie Pathologique T M, Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France Divisions of Internal Medicine and Hypertension, Department of Medical Sciences T A W, S M, P M and Endocrinology, Diabetes, and Metabolism, Department of Medical Sciences M M, University of Torino, Torino, Italy Medizinische Klinik und Poliklinik IV
Hypertension 64:354-61. 2014..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. ..
- Protein inhibitor of activated signal transducer and activator of transcription 1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity: implication of small ubiquitin-related modifier 1 modificationLaurent Pascual Le Tallec
Institut National de la Sante et de la Recherche Medicale, U478, Faculte de Medecine Xavier Bichat, 16 rue Henri Huchard, 75870 Paris Cedex 18, France
Mol Endocrinol 17:2529-42. 2003..Taken together, our results identify a novel function for PIAS1 which interacts with the N-terminal domain of hMR and represses its ligand-dependent transcriptional activity, at least in part, through SUMO modifications...
- Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronismLucie Pujo
Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Department of Genetics, Paris, France
Hum Mutat 28:33-40. 2007..The other patients without MR mutations might have different diseases resembling to PHA1 in the neonatal period, which could be identified by extensive clinical and functional exploration...
- Increased arterial stiffness in systemic lupus erythematosus (SLE) patients at low risk for cardiovascular disease: a cross-sectional controlled studyKarim Sacre
Departement de Medecine Interne, Hopital Bichat, Universite Paris Diderot, PRES Sorbonne Paris Cité, Assistance Publique Hopitaux de Paris, Paris, France INSERM U1149, Paris, France Département Hospitalo Universitaire FIRE Fibrosis, Inflammation and Remodelling in Renal and Respiratory Diseases, Paris, France
PLoS ONE 9:e94511. 2014..In conclusion, arterial stiffness is increased in SLE patients despite a low risk for CVD according to Framingham score and is associated with systolic blood pressure and glucocorticoid therapy. ..
- Adrenal cortex remodeling and functional zona glomerulosa hyperplasia in primary aldosteronismSheerazed Boulkroun
INSERM U970, Paris Cardiovascular Research Center, Paris, France
Hypertension 56:885-92. 2010..Transcriptional phenotyping is not in favor of this being an intermediate step toward the formation of aldosterone-producing adenoma...
- Brown adipocytes are novel sites of expression and regulation of adiponectin and resistinSay Viengchareun
INSERM U478, Institut Fédératif de Recherche Claude Bernard, Faculte de Medecine Xavier Bichat, 16 rue Henri Huchard, 75018, Paris, France
FEBS Lett 532:345-50. 2002....
- Mineralocorticoid resistanceMaria Christina Zennaro
Institut National de la Sante et de la Recherche Medicale, Unité 478, Faculte de Medecine, Xavier Bichat, B P 416, 16 rue H Huchard, 75870 Paris 18, France
Trends Endocrinol Metab 15:264-70. 2004..Precise clinical diagnosis and establishment of intermediate phenotypes should be helpful for identifying other genes involved in PHA1 and gaining new insight into the regulation of sodium homeostasis...