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One percent of the Swedish population carries a PDE11A loss-of-function mutation which is associated with elevated BP, abdominal obesity, and risk of ischemic stroke.
Testicular germ cell tumors had 55 PDE11A variants: 20 missense (10 new, 9 in transcript variant 4, 1 in transcript variant 3), 4 splice-site, 2 nonsense, 7 synonymous, and 22 intronic. p.F258Y, p.G291R, p.V820M, p.R545X, and p.K568R were only in cases.
PDE11A genetic variants may increase predisposition to ACTH (show POMC ELISA Kits)-independent macronodular adrenal hyperplasia.
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
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 (show PRKAR1A ELISA Kits) mutation.
PDE11A SNP assocaited with allergic asthma.
PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected and is associated with adrenal hyperplasia and adenomas.
Variants in PDE11A are not associated with citalopram response in patient with depression.
PDE11A is expressed widely in adrenal cortex. Its expression appears to be increased in PPNAD but varies widely among other adrenocortical tumors.
PDE11A sequence defects predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia).
The data of this study suggest PDE11A is selectively required for the proper consolidation of recognition and associative social memories.
PDE11A knockout mice show subtle psychiatric-disease-related deficits, including hyperactivity in an open field, increased sensitivity to the glutamate N-methyl-D-aspartate receptor (show GRIN3A ELISA Kits) antagonist MK-801, as well as deficits in social behaviors
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.
, dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
, dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A-like
, phosphodiesterase 11a
, cAMP and cGMP cyclic nucleotide phosphodiesterase 11A
, cAMP and cGMP phosphodiesterase 11A