Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.R804H
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PDE11A

NM_016953.4:p.R804H

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

Gene Mutations in Cushing's Syndrome.

Ojha U et al.

Molecular Syndromology, 2023

Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.

Cavalcante IP et al.

Nature Reviews. Endocrinology, 2022

Functional characteristics and research trends of PDE11A in human diseases (Review).

Kong G et al.

Molecular Medicine Reports, 2022

Alterations of Phosphodiesterases in Adrenocortical Tumors.

Hannah-Shmouni F et al.

Frontiers in Endocrinology, 2016

Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Pathak A et al.

Endocrine-related Cancer, 2015

Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

Azevedo MF et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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.

Vezzosi D et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Whole-genome analysis informs breast cancer response to aromatase inhibition.

Ellis MJ et al.

Nature, 2012

22722193 (PubMed )
Supplement: NIHMS370283-supplement-1.pdf

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

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

Faucz FR et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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.

Libé R et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.

Peverelli E et al.

European Journal of Endocrinology, 2009

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

Horvath A et al.

Cancer Research, 2009

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

Stratakis CA

Molecular and Cellular Endocrinology, 2009

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

Libé R et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions.

Boikos SA et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2008

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

Stratakis CA et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2007

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

Horvath A et al.

Cancer Research, 2006

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

Horvath A et al.

Nature Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."