Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.D609N
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PDE11A

NM_016953.4:p.D609N

Associated Papers

Gene Mutations in Cushing's Syndrome.

Ojha U et al.

Molecular Syndromology, 2023

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

Kong G et al.

Molecular Medicine Reports, 2022

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

Shimada H et al.

Biomedicines, 2021

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

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

Faucz FR et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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

Horvath A et al.

Cancer Research, 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

Genetics of primary macronodular adrenal hyperplasia.

Candida Barisson Villares Fragoso M et al.

Presse Medicale (paris, France : 1983), 0

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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."