List of works - Jérôme Bertherat

5th International ACC Symposium: Classification of Adrenocortical Cancers from Pathology to Integrated Genomics: Real Advances or Lost in Translation?

scientific article published on 16 December 2015

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

scientific article (publication date: July 2006)

ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma

scientific article

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

scientific article

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH).

scientific article

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome

scientific article

Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population

scientific article published on December 2006

Adrenal incidentalomas

scientific article

Adrenocortical cancer: pathophysiology and clinical management

scientific article published on March 2007

Adrenocortical growth and cancer

scientific article

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

scientific article

Analysis of the role of Igf2 in adrenal tumour development in transgenic mouse models

scientific article (publication date: 2012)

Carney complex

scientific article published on 19 March 2013

Carney complex (CNC).

scientific article

Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism

scientific article

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review

scientific article published on 06 May 2011

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

scientific article

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

article

Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice

scientific article

Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors

scientific article

EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progression

scientific article published on 5 May 2016

Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A).

scientific article

Health-related quality of life of patients with hypothalamic-pituitary-adrenal axis dysregulations: a cohort study

scientific article published on 12 April 2017

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

scientific article

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

scientific article published on 10 October 2013

Large deletions of the PRKAR1A gene in Carney complex

scientific article published on January 2008

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

scientific article published on May 2013

Molecular 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 pathophysio

scientific article

Molecular genetics of adrenocortical tumours, from familial to sporadic diseases

scientific article

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

scientific article

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

scientific article

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes

scientific article published on 17 March 2009

Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors

scientific article published on September 2005

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas

scientific article published on 03 February 2009

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

scientific article

Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome

scientific article

PRKAR1A mutations in primary pigmented nodular adrenocortical disease

scientific article published on January 2006

Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association

scientific article (publication date: November 2011)

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 trial

scientific article

Pathogenesis of adrenocortical cancer

scientific article published on April 2009

Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors

scientific article

Phosphodiesterases in endocrine physiology and disease

scientific article published on 20 May 2011

Primary Aldosteronism and ARMC5 Variants

scientific article published on 30 March 2015

Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors

scientific article

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

scientific article published on 17 November 2016

Role of ACTH in the Interactive/Paracrine Regulation of Adrenal Steroid Secretion in Physiological and Pathophysiological Conditions

scientific article

SDHA is a tumor suppressor gene causing paraganglioma

scientific article

Silencing mutated β-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R.

scientific article

TNF alpha signaling is associated with therapeutic responsiveness to vascular disrupting agents in endocrine tumors

scientific article published on 5 January 2016

The Nelson's syndrome... revisited

scientific article

The Warburg effect is genetically determined in inherited pheochromocytomas

scientific article

The genetics of adrenocortical tumors

scientific article published on June 2015

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

scientific article published on 21 April 2009

The pathophysiology, diagnosis and prognosis of adrenocortical tumors revisited by transcriptome analyses

scientific article published on 25 January 2010

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production

scientific article published on October 2013

Wnt/β-catenin signalling in adrenal physiology and tumour development

scientific article published on 10 September 2011

mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).

scientific article

List of works by Jérôme Bertherat

5th International ACC Symposium: Classification of Adrenocortical Cancers from Pathology to Integrated Genomics: Real Advances or Lost in Translation?

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH).

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome

Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population

Adrenal incidentalomas

Adrenocortical cancer: pathophysiology and clinical management

Adrenocortical growth and cancer

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

Analysis of the role of Igf2 in adrenal tumour development in transgenic mouse models

Carney complex

Carney complex (CNC).

Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice

Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors

EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progression

Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A).

Health-related quality of life of patients with hypothalamic-pituitary-adrenal axis dysregulations: a cohort study

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

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

Large deletions of the PRKAR1A gene in Carney complex

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

Molecular 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 pathophysio

Molecular genetics of adrenocortical tumours, from familial to sporadic diseases

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes

Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome

PRKAR1A mutations in primary pigmented nodular adrenocortical disease

Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association

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 trial

Pathogenesis of adrenocortical cancer

Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors

Phosphodiesterases in endocrine physiology and disease

Primary Aldosteronism and ARMC5 Variants

Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

Role of ACTH in the Interactive/Paracrine Regulation of Adrenal Steroid Secretion in Physiological and Pathophysiological Conditions

SDHA is a tumor suppressor gene causing paraganglioma

Silencing mutated β-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R.

TNF alpha signaling is associated with therapeutic responsiveness to vascular disrupting agents in endocrine tumors

The Nelson's syndrome... revisited

The Warburg effect is genetically determined in inherited pheochromocytomas

The genetics of adrenocortical tumors

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

The pathophysiology, diagnosis and prognosis of adrenocortical tumors revisited by transcriptome analyses

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production

Wnt/β-catenin signalling in adrenal physiology and tumour development

mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).