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    PDE11A phosphodiesterase 11A [ Homo sapiens (human) ]

    Gene ID: 50940, updated on 2-May-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

    Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
    Qin W, Zhou A, Zuo X, Jia L, Li F, Wang Q, Li Y, Wei Y, Jin H, Cruchaga C, Benitez BA, Jia J., Free PMC Article

    04/16/2022
    PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile.

    PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile.
    Faja F, Finocchi F, Carlini T, Rizzo F, Pallotti F, Spaziani M, Balercia G, Lenzi A, Paoli D, Lombardo F., Free PMC Article

    01/22/2022
    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.

    A stop-codon of the phosphodiesterase 11A gene is associated with elevated blood pressure and measures of obesity.
    Ohlsson T, Lindgren A, Engström G, Jern C, Melander O.

    09/24/2016
    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.

    Rare inactivating PDE11A variants associated with testicular germ cell tumors.
    Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L., Free PMC Article

    07/16/2016
    PDE11A genetic variants may increase predisposition to ACTH-independent macronodular adrenal hyperplasia.

    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, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J., Free PMC Article

    01/26/2013
    found in single nerve trunks in the clitoral stroma

    Expression and distribution of key enzymes of the cyclic GMP signaling in the human clitoris: relation to phosphodiesterase type 5 (PDE5).
    Ückert S, Oelke M, Albrecht K, Breitmeier D, Kuczyk MA, Hedlund P.

    01/21/2012
    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

    Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
    Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA, Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA., Free PMC Articles: PMC3038491, PMC3038491

    02/5/2011
    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.

    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, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA, Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA., Free PMC Articles: PMC3038483, PMC3038483

    02/5/2011
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    PDE11A associations with asthma: results of a genome-wide association scan.
    DeWan AT, Triche EW, Xu X, Hsu LI, Zhao C, Belanger K, Hellenbrand K, Willis-Owen SA, Moffatt M, Cookson WO, Himes BE, Weiss ST, Gauderman WJ, Baurley JW, Gilliland F, Wilk JB, O'Connor GT, Strachan DP, Hoh J, Bracken MB, DeWan AT, Triche EW, Xu X, Hsu LI, Zhao C, Belanger K, Hellenbrand K, Willis-Owen SA, Moffatt M, Cookson WO, Himes BE, Weiss ST, Gauderman WJ, Baurley JW, Gilliland F, Wilk JB, O'Connor GT, Strachan DP, Hoh J, Bracken MB., Free PMC Articles: PMC3133448, PMC3133448

    12/5/2010
    PDE11A SNP assocaited with allergic asthma.

    PDE11A associations with asthma: results of a genome-wide association scan.
    DeWan AT, Triche EW, Xu X, Hsu LI, Zhao C, Belanger K, Hellenbrand K, Willis-Owen SA, Moffatt M, Cookson WO, Himes BE, Weiss ST, Gauderman WJ, Baurley JW, Gilliland F, Wilk JB, O'Connor GT, Strachan DP, Hoh J, Bracken MB, DeWan AT, Triche EW, Xu X, Hsu LI, Zhao C, Belanger K, Hellenbrand K, Willis-Owen SA, Moffatt M, Cookson WO, Himes BE, Weiss ST, Gauderman WJ, Baurley JW, Gilliland F, Wilk JB, O'Connor GT, Strachan DP, Hoh J, Bracken MB., Free PMC Articles: PMC3133448, PMC3133448

    11/13/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Binding of cyclic nucleotides to phosphodiesterase 10A and 11A GAF domains does not stimulate catalytic activity.

    Binding of cyclic nucleotides to phosphodiesterase 10A and 11A GAF domains does not stimulate catalytic activity.
    Matthiesen K, Nielsen J.

    01/21/2010
    Immunohistochemistry revealed PDE11A expression higher in somatotropinomas than in normal somatotrophs, without significant difference between tumors with or without PDE11A variants.

    Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.
    Peverelli E, Ermetici F, Filopanti M, Elli FM, Ronchi CL, Mantovani G, Ferrero S, Bosari S, Beck-Peccoz P, Lania A, Spada A, Peverelli E, Ermetici F, Filopanti M, Elli FM, Ronchi CL, Mantovani G, Ferrero S, Bosari S, Beck-Peccoz P, Lania A, Spada A.

    01/21/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Association of PDE11A global haplotype with major depression and antidepressant drug response.
    Luo HR, Wu GS, Dong C, Arcos-Burgos M, Ribeiro L, Licinio J, Wong ML., Free PMC Article

    08/12/2009
    PDE11A-inactivating sequence variants may modify the risk of familial and bilateral testicular germ cell tumors.

    Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
    Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA, Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA., Free PMC Articles: PMC2734464, PMC2734464

    01/21/2010
    PDE11A, is unlikely to play an important role in antidepressant outcome in this sample

    Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sample.
    Cabanero M, Laje G, Detera-Wadleigh S, McMahon FJ, Cabanero M, Laje G, Detera-Wadleigh S, McMahon FJ., Free PMC Articles: PMC2819180, PMC2819180

    01/21/2010
    PDE11A sequence defects predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia).

    Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.
    Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J, Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J., Free PMC Articles: PMC3134879, PMC3134879

    01/21/2010
    PDE11A is expressed widely in adrenal cortex. Its expression appears to be increased in PPNAD but varies widely among other adrenocortical tumors.

    Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions.
    Boikos SA, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J, Carney JA, Stratakis CA., Free PMC Article

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (8) articles

    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, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA, Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA.

    Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
    Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA, Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA.

    Poor replication of candidate genes for major depressive disorder using genome-wide association data.
    Bosker FJ, Hartman CA, Nolte IM, Prins BP, Terpstra P, Posthuma D, van Veen T, Willemsen G, DeRijk RH, de Geus EJ, Hoogendijk WJ, Sullivan PF, Penninx BW, Boomsma DI, Snieder H, Nolen WA.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.
    Peverelli E, Ermetici F, Filopanti M, Elli FM, Ronchi CL, Mantovani G, Ferrero S, Bosari S, Beck-Peccoz P, Lania A, Spada A, Peverelli E, Ermetici F, Filopanti M, Elli FM, Ronchi CL, Mantovani G, Ferrero S, Bosari S, Beck-Peccoz P, Lania A, Spada A.

    Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
    Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA, Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA.

    Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.
    Bimpaki EI, Nesterova M, Stratakis CA.

    Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.
    Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J, Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J.

    07/2/2008
    N-terminal modifications strongly affect cGMP regulation of hPDE11A4

    The properties of phosphodiesterase 11A4 GAF domains are regulated by modifications in its N-terminal domain.
    Gross-Langenhoff M, Stenzl A, Altenberend F, Schultz A, Schultz JE.

    01/21/2010
    Observational study of genotype prevalence. (HuGE Navigator)

    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, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA, Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA.

    03/13/2008
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)See all PubMed (4) articles

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators.

    Failure to replicate genetic associations with antidepressant treatment response in duloxetine-treated patients.
    Perlis RH, Fijal B, Dharia S, Heinloth AN, Houston JP.

    Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sample.
    Cabanero M, Laje G, Detera-Wadleigh S, McMahon FJ, Cabanero M, Laje G, Detera-Wadleigh S, McMahon FJ.

    Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response.
    Wong ML, Whelan F, Deloukas P, Whittaker P, Delgado M, Cantor RM, McCann SM, Licinio J.

    03/13/2008
    Variants in PDE11A are not associated with citalopram response in patient with depression.

    Variants in PDE11A and PDE1A are not associated with citalopram response.
    Teranishi KS, Slager SL, Garriock H, Kraft JB, Peters EJ, Reinalda MS, Jenkins GD, McGrath PJ, Hamilton SP.

    01/21/2010
    we detected protein corresponding to PDE11A4, in human prostate, pituitary, heart and liver

    3',5'-cyclic nucleotide phosphodiesterase 11A: localization in human tissues.
    Loughney K, Taylor J, Florio VA.

    01/21/2010
    PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected and is associated with adrenal hyperplasia and adenomas.

    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, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA, Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA.

    01/21/2010
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