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ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndromeRole of ACTH in the Interactive/Paracrine Regulation of Adrenal Steroid Secretion in Physiological and Pathophysiological ConditionsAnalysis of the role of Igf2 in adrenal tumour development in transgenic mouse modelsA genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasiaPancreatic ductal and acinar cell neoplasms in Carney complex: a possible new associationNovel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisProtein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.The Warburg effect is genetically determined in inherited pheochromocytomasARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional ConsequencesACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH).Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout miceFamilial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A).SDHA is a tumor suppressor gene causing paraganglioma.Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome.mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.Adrenal incidentalomas.Carney complex (CNC).Silencing mutated β-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R.Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism.Primary Aldosteronism and ARMC5 Variants.Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.Pasireotide can induce sustained decreases in urinary cortisol and provide clinical benefit in patients with Cushing's disease: results from an open-ended, open-label extension trialThe Nelson's syndrome... revisited.Molecular genetics of adrenocortical tumours, from familial to sporadic diseases.Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumorsAn immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.PRKAR1A mutations in primary pigmented nodular adrenocortical disease.Adrenocortical cancer: pathophysiology and clinical management.Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafnessMolecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysioMutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits.Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.Pathogenesis of adrenocortical cancer.Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters.
P50
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P50
description
onderzoeker
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name
Jérôme Bertherat
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Jérôme Bertherat
@en
Jérôme Bertherat
@sl
type
label
Jérôme Bertherat
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Jérôme Bertherat
@en
Jérôme Bertherat
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prefLabel
Jérôme Bertherat
@ast
Jérôme Bertherat
@en
Jérôme Bertherat
@sl