Associated Papers
REECAP: Contrastive learning of retinal aging reveals genetic loci linking morphology to eye disease.
Shilova L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.
Vaduva P et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
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
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
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA et al.
Human Molecular Genetics, 2022
Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.
Jones SE et al.
Nature Communications, 2019
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Tedja MS et al.
Nature Genetics, 2018
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
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