Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.A349T
Back to variants list

PDE11A

NM_016953.4:p.A349T

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

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

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.

Aslaksen S et al.

Journal of Translational Autoimmunity, 2019

32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."