Varaico: Literature-Extracted Genetic Variants

Gene:PDE8B
Variant:p.H305P
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PDE8B

NM_003719.5:p.H305P

Associated Papers

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Adrenal hyperplasias in childhood: An update.

Pitsava G et al.

Frontiers in Endocrinology, 2022

Disorders of the adrenal cortex: Genetic and molecular aspects.

Pitsava G et al.

Frontiers in Endocrinology, 2022

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

Alterations of Phosphodiesterases in Adrenocortical Tumors.

Hannah-Shmouni F et al.

Frontiers in Endocrinology, 2016

Phosphodiesterase 8B and cyclic AMP signaling in the adrenal cortex.

Leal LF et al.

Endocrine, 2015

Phosphodiesterases and adrenal Cushing in mice and humans.

Szarek E et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2014

A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement.

Taylor PN et al.

European Journal of Endocrinology, 2011

How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues?

Almeida MQ et al.

Molecular and Cellular Endocrinology, 2011

Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Almeida MQ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.

Horvath A et al.

Thyroid : Official Journal of the American Thyroid Association, 2010

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.

Horvath A et al.

European Journal of Human Genetics : Ejhg, 2008

Unraveling the molecular basis of micronodular adrenal hyperplasia.

Horvath A et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

The transcriptome that mediates increased cyclic adenosine monophosphate signaling in PRKAR1A defects and other settings.

Azevedo MF et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

Genetics of micronodular adrenal hyperplasia and Carney complex.

Tirosh A et al.

Presse Medicale (paris, France : 1983), 0

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