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

The journal of clinical endocrinology and metabolism, 2015-06, Vol.100 (6), p.E926-E935

2015

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Molecular and Clinical Evidence for an ARMC5 Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma

The journal of clinical endocrinology and metabolism, 2015-01, Vol.100 (1), p.E119-E128

2015

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Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias

Nature clinical practice. Endocrinology & metabolism, 2007-11, Vol.3 (11), p.748-757

2007

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A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues : a novel PDE8B isoform in human adrenal cortex

European journal of human genetics : EJHG, 2008-10, Vol.16 (10), p.1245-1253

2008

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Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

The journal of clinical endocrinology and metabolism, 2009-06, Vol.94 (6), p.2085-2091

2009

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Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review

Archives of Endocrinology and Metabolism, 2024-01, Vol.68, p.e220491

2024

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

Human molecular genetics, 2014-10, Vol.23 (20), p.5418-5428

2014

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Detection of somatic β-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD)

Clinical endocrinology (Oxford), 2008-09, Vol.69 (3), p.367-373

2008

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Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy

Internal Medicine, 2022/01/15, Vol.61(2), pp.205-211

2022

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Parathyroid Hormone Resistance and Bilateral Macronodular Adrenocortical Disease: Does Partial Loss of Methylation at the GNAS Exon 1 Differentially Methylated Region (DMR) Play a Role?

Hormone and metabolic research, 2017-07, Vol.49 (7), p.558-560

Koch, Christian A

2017

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Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series

Hormone research in paediatrics, 2018-01, Vol.89 (6), p.423-433

2018

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Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease

Endocrine-related cancer, 2008-06, Vol.15 (2), p.465-474

2008

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Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings

The American journal of surgical pathology, 2014-09, Vol.38 (9), p.1266-1273

2014

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MicroRNA signature in massive macronodular adrenocortical disease and implications for adrenocortical tumourigenesis

Clinical endocrinology (Oxford), 2010-06, Vol.72 (6), p.744-751

2010

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MicroRNA Signature of Primary Pigmented Nodular Adrenocortical Disease: Clinical Correlations and Regulation of Wnt Signaling

Cancer research (Chicago, Ill.), 2009-04, Vol.69 (8), p.3278-3282

2009

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

The American journal of surgical pathology, 2010-04, Vol.34 (4), p.547-555

2010

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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 journal of clinical endocrinology and metabolism, 2009-07, Vol.94 (7), p.2406-2413

2009

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A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease

Internal Medicine, 2016/09/01, Vol.55(17), pp.2433-2438

2016

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Depletion of type IA regulatory subunit (RIα) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency

Human molecular genetics, 2006-10, Vol.15 (19), p.2962-2971

2006

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Mutations of the PRKAR1A Gene in Cushing’s Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease

The journal of clinical endocrinology and metabolism, 2002-09, Vol.87 (9), p.4324-4329

2002

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New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors

Molecular and cellular endocrinology, 2009-03, Vol.300 (1-2), p.152-157

Stratakis, Constantine A.

2009

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Heterogeneity of skin manifestations in patients with Carney complex

Journal of the American Academy of Dermatology, 2008-11, Vol.59 (5), p.801-810

2008

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PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease

JCI insight, 2016-09, Vol.1 (15), p.e87958-e87958

2016

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A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions

Journal of medical genetics, 2004-12, Vol.41 (12), p.923-931

2004

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Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

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

Molecular and Clinical Evidence for an ARMC5 Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma

Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues : a novel PDE8B isoform in human adrenal cortex

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review

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

Detection of somatic β-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD)

Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy

Parathyroid Hormone Resistance and Bilateral Macronodular Adrenocortical Disease: Does Partial Loss of Methylation at the GNAS Exon 1 Differentially Methylated Region (DMR) Play a Role?

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series

Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease

Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings

MicroRNA signature in massive macronodular adrenocortical disease and implications for adrenocortical tumourigenesis

MicroRNA Signature of Primary Pigmented Nodular Adrenocortical Disease: Clinical Correlations and Regulation of Wnt Signaling

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

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

A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease

Depletion of type IA regulatory subunit (RIα) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency

Mutations of the PRKAR1A Gene in Cushing’s Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease

New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors

Heterogeneity of skin manifestations in patients with Carney complex

PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease

A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions

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