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
The Sleep Quality- and Myopia-Linked PDE11A-Y727C Variant Impacts Neural Physiology by Reducing Catalytic Activity and Altering Subcellular Compartmentalization of the Enzyme.
Sbornova I et al.
Cells, 2023
The sleep quality- and myopia-linked PDE11A-Y727C variant impacts neural physiology by reducing catalytic activity and altering subcellular compartmentalization of the enzyme.
Sbornova I et al.
Biorxiv : the Preprint Server for Biology, 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
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
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
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay SF et al.
Orphanet Journal of Rare Diseases, 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
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
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