Associated Papers
Preventing Cushing Syndrome: Adrenalectomy in PDE11A-Positive Primary Pigmented Nodular Adrenocortical Disease.
Carling T et al.
Jcem Case Reports, 2026
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
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant
Olgun Çelebioğlu HB et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma.
Scatolini M et al.
European Journal of Cancer (oxford, England : 1990), 2024
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV et al.
International Journal of Molecular Sciences, 2024
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
Functional characteristics and research trends of PDE11A in human diseases (Review).
Kong G et al.
Molecular Medicine Reports, 2022
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Quaio CRD'C et al.
Scientific Reports, 2022
Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.
Pacheco Y et al.
Cells, 2021
Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.
Pinto EM et al.
Frontiers in Endocrinology, 2021
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.
Paprocka J et al.
Frontiers in Genetics, 2021
Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors.
Pinto EM et al.
Cancers, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.
Jones SE et al.
Nature Communications, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
Quezada Urban R et al.
Cancers, 2018
Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.
Ahlborn LB et al.
Oncotarget, 2018
Advances in the Genetics of Hypertension: The Effect of Rare Variants.
Russo A et al.
International Journal of Molecular Sciences, 2018
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Zarrei M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.
Kaartokallio T et al.
Scientific Reports, 2016
A stop-codon of the phosphodiesterase 11A gene is associated with elevated blood pressure and measures of obesity.
Ohlsson T et al.
Journal of Hypertension, 2016
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
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
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) 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
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