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Phosphodiesterase 11A

PDE11A, phosphodiesterase 11A
The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Phosphodiesterase, PDE, PDE8B, CAN, HAD
Papers on PDE11A
Active 3'-5' cyclic nucleotide phosphodiesterases are present in detergent-resistant membranes of mural granulosa cells.
New
Richard et al., In Reprod Fertil Dev, Feb 2016
PDE6C, PDE8A and PDE11A were detected by dot blot in the DRMs and the Triton-soluble fraction of the mural granulosa cells membrane and the cytosol.
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
New
Mirabello et al., Rockville, United States. In Endocr Relat Cancer, Dec 2015
Germline inactivating mutations of isoform 4 of phosphodiesterase (PDE) 11A (coded by the PDE11A gene) have been associated with familial adrenocortical tumors and familial testicular cancer.
Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
Review
New
Bertherat et al., Paris, France. In Eur J Endocrinol, Oct 2015
Rare variants of the phosphodiesterases PDE11A have been associated with PBMAH.
Phosphodiesterase 8B and cyclic AMP signaling in the adrenal cortex.
Review
New
Stratakis et al., Bethesda, United States. In Endocrine, Sep 2015
Bilateral adrenocortical hyperplasia (BAH) in humans and mice has been recently linked to phosphodiesterase (PDE) 8B (PDE8B) and 11 (PDE11A) defects.
Phosphodiesterases in the rat ovary: effect of cAMP in primordial follicles.
New
Andersen et al., Ballerup, Denmark. In Reproduction, Jul 2015
Immunoreactive PDE11A was found in the oocytes and PDE2A in the corpora lutea.
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
New
Chen et al., Taipei, Taiwan. In Hum Reprod, Jul 2015
SUMMARY ANSWER: OR4M2 (olfactory receptor, family 4, subfamily M, member 2) and PDE11A (phosphodiesterase 11A) gene loss-of-function variants as well as deletions at 15q11.2, 19q13.31,
Clinicopathological correlates of adrenal Cushing's syndrome.
Review
New
Mete et al., Toronto, Canada. In Postgrad Med J, Jun 2015
Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH.
p54nrb/NONO regulates cyclic AMP-dependent glucocorticoid production by modulating phosphodiesterase mRNA splicing and degradation.
New
Sewer et al., San Diego, United States. In Mol Cell Biol, Apr 2015
Interestingly, the expression of multiple phosphodiesterase (PDE) isoforms, including PDE2A, PDE3A, PDE3B, PDE4A, PDE4D, and PDE11A, was induced in p54(nrb)/NONO knockdown cells.
Distribution and function of 3',5'-Cyclic-AMP phosphodiesterases in the human ovary.
New
Andersen et al., Copenhagen, Denmark. In Mol Cell Endocrinol, Apr 2015
We found that PDE3, PDE4, PDE7 and PDE8 are the major families present while PDE11A was not detected.
Clinicopathological correlates of adrenal Cushing's syndrome.
Review
New
Mete et al., Toronto, Canada. In J Clin Pathol, Mar 2015
Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH.
Does phosphodiesterase 11A (PDE11A) hold promise as a future therapeutic target?
Review
Kelly, Saint Kitts and Nevis. In Curr Pharm Des, 2014
Phosphodiesterase 11A (PDE11A) is the most recently discovered 3', 5'-cyclic nucleotide phosphodiesterase.
Phosphodiesterases and adrenal Cushing in mice and humans.
Review
Stratakis et al., Bethesda, United States. In Horm Metab Res, 2014
A Genome Wide Association study, in 2006, led to the identification of mutations in 2 PDE genes: PDE8B and PDE11A; mutations in these 2 genes modulate steroidogenesis.
Phosphodiesterase isoenzymes in the human urethra: a molecular biology and functional study.
Ückert et al., Hannover, Germany. In Eur J Pharmacol, 2014
RT-PCR analysis revealed the expression of PDE1B, PDE1C, PDE4A, PDE4C, PDE4D, PDE5A and PDE11A.
Copy number variants in short children born small for gestational age.
Ruivenkamp et al., Leiden, Netherlands. In Horm Res Paediatr, 2013
Bioinformatic analysis of the de novo and segregating CNVs suggested that HOXD4, AGPS, PDE11A, OSBPL6, PRKRA and PLEKHA3, and possibly DGKB and TNFRSF11B are potential candidate genes.
Expression and distribution of key enzymes of the cyclic GMP signaling in the human clitoris: relation to phosphodiesterase type 5 (PDE5).
GeneRIF
Hedlund et al., Hannover, Germany. In Int J Impot Res, 2011
found in single nerve trunks in the clitoral stroma
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
GeneRIF
Stratakis et al., Bethesda, United States. In J Clin Endocrinol Metab, 2011
Our data suggest that, like in the adrenal cortex and the testicular germ cells, PDE11A-inactivating genetic alterations may play a role in susceptibility to prostate cancer
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.
GeneRIF
Stratakis et al., Paris, France. In J Clin Endocrinol Metab, 2011
We demonstrate, in a large cohort of Carney Complex patients, a high frequency of PDE11A variants, suggesting that PDE11A is a genetic modifying factor for the development of testicular and adrenal tumors in patients with germline PRKAR1A mutation.
PDE11A associations with asthma: results of a genome-wide association scan.
GeneRIF
Bracken et al., In J Allergy Clin Immunol, 2010
PDE11A SNP assocaited with allergic asthma.
Binding of cyclic nucleotides to phosphodiesterase 10A and 11A GAF domains does not stimulate catalytic activity.
GeneRIF
Nielsen et al., Copenhagen, Denmark. In Biochem J, 2009
Binding of cyclic nucleotides to phosphodiesterase 10A and 11A GAF domains does not stimulate catalytic activity.
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Impact
Stratakis et al., Bethesda, United States. In Nat Genet, 2006
We identified mutations disrupting the expression of the PDE11A isoform-4 gene (PDE11A) in three kindreds.
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