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 (Q36361438)

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English	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

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scholarly article

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Europe PubMed Central

PMC publication ID

13 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

adrenal hyperplasia

1 reference

based on heuristic

inferred from title

Cushing syndrome due to macronodular adrenal hyperplasia

1 reference

based on heuristic

inferred from title

Jérôme Bertherat

11

object named as

Jérôme Bertherat

0 references

Grégoire Vandecasteele

10

object named as

Grégoire Vandecasteele

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Marthe Rizk-Rabin

object named as

Marthe Rizk-Rabin

4

0 references

object named as

Bruno Ragazzon

8

0 references

object named as

Rossella Libé

2

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Constantine A Stratakis

9

object named as

Constantine A Stratakis

1 reference

Europe PubMed Central

13 August 2017

PMC publication ID

author name string

Delphine Vezzosi

1

1 reference

Europe PubMed Central

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13 August 2017

Camille Baudry

3

1 reference

Europe PubMed Central

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13 August 2017

Anelia Horvath

5

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Europe PubMed Central

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13 August 2017

Isaac Levy

6

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Europe PubMed Central

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13 August 2017

Fernande René-Corail

7

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13 August 2017

language of work or name

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publication date

20 September 2012

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13 August 2017

The Journal of Clinical Endocrinology and Metabolism

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Europe PubMed Central

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13 August 2017

97

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Europe PubMed Central

PMC publication ID

13 August 2017

11

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

E2063-9

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Europe PubMed Central

PMC publication ID

13 August 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

1 reference

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Identification of biologically active PDE11-selective inhibitors using a yeast-based high-throughput screen

1 reference

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Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease

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Association studies in thyroid cancer susceptibility: are we on the right track?

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Phosphodiesterases in endocrine physiology and disease

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The High-Affinity cAMP-Specific Phosphodiesterase 8B Controls Steroidogenesis in the Mouse Adrenal Gland

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Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype

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PDE11A associations with asthma: results of a genome-wide association scan

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Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer

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Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis.

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Inactivation of the Carney complex gene 1 (protein kinase A regulatory subunit 1A) inhibits SMAD3 expression and TGF beta-stimulated apoptosis in adrenocortical cells.

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Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors

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Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors

1 reference

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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

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Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors

1 reference

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30 September 2017

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

1 reference

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PDE4B polymorphisms and decreased PDE4B expression are associated with schizophrenia

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PDE4D gene in the STRK1 region on 5q12: susceptibility gene for ischemic stroke

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Familial adrenocorticotropin-independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors

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

1 reference

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Retinitis pigmentosa

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Association of phosphodiesterase 4D gene polymorphisms with chronic obstructive pulmonary disease: relationship to interleukin 13 gene polymorphism.

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Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response

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

1 reference

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Novel single chain cAMP sensors for receptor-induced signal propagation.

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cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors.

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Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

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Loss of expression of the ubiquitous transcription factor cAMP response element-binding protein (CREB) and compensatory overexpression of the activator CREMtau in the human adrenocortical cancer cell line H295R.

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Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas.

1 reference

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A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds

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In vivo and in vitro screening for illegitimate receptors in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome: identification of two cases of gonadotropin/gastric inhibitory polypeptide-dependent hypercorti

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Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease

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The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors.

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22 September 2018

Identifiers

10.1210/JC.2012-2275

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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