| Single-cell transcriptomic analysis identifies downregulated phosphodiesterase 8B as a novel oncogene in IDH-mutant glioma. | Single-cell transcriptomic analysis identifies downregulated phosphodiesterase 8B as a novel oncogene in IDH-mutant glioma.
He Z, Peng Y, Wang D, Yang C, Zhou C, Gong B, Song S, Wang Y., Free PMC Article | 08/1/2024 |
| cAMP-specific phosphodiesterase 8A and 8B isoforms are differentially expressed in human testis and Leydig cell tumor. | cAMP-specific phosphodiesterase 8A and 8B isoforms are differentially expressed in human testis and Leydig cell tumor.
Campolo F, Capponi C, Tarsitano MG, Tenuta M, Pozza C, Gianfrilli D, Magliocca F, Venneri MA, Vicini E, Lenzi A, Isidori AM, Barbagallo F., Free PMC Article | 10/29/2022 |
| Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders. | Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders.
Ni J, Yi X, Liu Z, Sun W, Yuan Y, Yang J, Jiang H, Shen L, Tang B, Liu Y, Wang J. | 09/5/2020 |
| Study shows that PDE8B may not play a major role in familial and early-onset Parkinson disease without distinctive lesions of the striatum on brain MRI in this Taiwanese population. | PDE8B mutation is not associated with Parkinson's disease in a Taiwanese population.
Fan TS, Wu RM, Lin HI, Cheng C, Lin CH. | 09/14/2019 |
| Single-nucleotide polymorphism in PDE8B gene is associated with Hashimoto's thyroiditis. | Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis.
Barić A, Brčić L, Gračan S, Torlak Lovrić V, Gunjača I, Šimunac M, Brekalo M, Boban M, Polašek O, Barbalić M, Zemunik T, Punda A, Boraska Perica V. | 08/4/2018 |
| replication confirmed at genome-wide significance the association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB and PDE10A with serum TSH. A total of 12 SNPs seemed to explain nearly 7% of the serum TSH variation | Replication confirms the association of loci in FOXE1, PDE8B, CAPZB and PDE10A with thyroid traits: a Genetics of Diabetes Audit and Research Tayside study (GoDARTS).
Soto-Pedre E, Siddiqui MK, Doney AS, Palmer CNA, Pearson ER, Leese GP. | 03/10/2018 |
| a heterozygous nonsense mutation in the first exon of cyclic nucleotide phosphodiesterase 8B gene, which is predicted to disrupt all important functional domains of the cyclic nucleotide phosphodiesterase 8B protein, in two members of family with autosomal-dominant striatal degeneration | A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S. | 03/11/2017 |
| Genetic variation of the PDE8B gene may be involved in the etiology of subclinical hypothyroidism in pregnant women. | Genetic association study of phosphodiesterase 8B gene with subclinical hypothyroidism in pregnant women.
Yang S, Tao J, Zhang J, Fan J, Qian W, Shu K. | 08/13/2016 |
| A prevalence of the minor allele of PDE8B gene polymorphism associated with elevated serum levels of TSH was demonstrated in patients affected by sporadic nonautoimmune subclinical hypothyroidism. | Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism.
Agretti P, De Marco G, Di Cosmo C, Bagattini B, Ferrarini E, Montanelli L, Vitti P, Tonacchera M. | 11/22/2014 |
| rs4704397 is associated with thyroid function, risk of MI, and body height. | The phosphodiesterase 8B gene rs4704397 is associated with thyroid function, risk of myocardial infarction, and body height: the Tromsø study.
Jorde R, Schirmer H, Wilsgaard T, Joakimsen RM, Mathiesen EB, Njølstad I, Løchen ML, Figenschau Y, Svartberg J, Hutchinson MS, Kjærgaard M, Jørgensen L, Grimnes G. | 10/25/2014 |
| rs4704397 in phosphodiesterase 8B is associated with thyrotropin and thyroid hormone concentrations | Associations of rs4704397 in phosphodiesterase 8B with thyrotropin and thyroid hormone concentrations.
Roef GL, Rietzschel ER, De Meyer T, Bekaert S, De Buyzere ML, Kaufman JM, Taes YE. | 09/21/2013 |
| There is an association between homozygous A/A as well as homozygous G/G carriers of SNP rs 4704397 in PDE8B and recurrent miscarriage. | Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: a retrospective case control study.
Granfors M, Karypidis H, Hosseini F, Skjöldebrand-Sparre L, Stavreus-Evers A, Bremme K, Landgren BM, Sundström-Poromaa I, Wikström AK, Åkerud H., Free PMC Article | 03/23/2013 |
| PDE8B gene polymorphisms may be correlated with hyperthyroxinemia in the Chinese Han population. | [Association analysis of PDE8B gene polymorphisms with the susceptibility to Hyperthyroxinemia in Chinese Han population].
Zhan M, Zhao SX, Gu ZH, Guo CC, Song ZY, Song HD. | 03/23/2013 |
| PDE8B is another PDE gene in which variations may contribute to predisposition of adrenocortical tumours. | Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA., Free PMC Article | 11/17/2012 |
| In obese children, PDE8B is associated with TSH; the interaction between adiposity and PDE8B on TSH is not synergistic, but follows an additive model. | Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity.
Grandone A, Perrone L, Cirillo G, Di Sessa A, Corona AM, Amato A, Cresta N, Romano T, Miraglia del Giudice E. | 03/24/2012 |
| Common genetic variation in PDE8B is associated with reciprocal changes in thyroid hormone levels. | A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement.
Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, Beilby JP, Leedman PJ, Hattersley AT, Vaidya B, Frayling T, Evans J, Tobias JH, Timpson NJ, Walsh JP, Dayan CM., Free PMC Article | 06/25/2011 |
| 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 |
| Our analysis revealed separate segregation of an inactivating PDE8B allele from the high-TSH-allele and showed low TSH levels in persons who carry an inactivating PDE8B allele. These data suggest that PDE8B may be involved in regulation of TSH levels. | Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.
Horvath A, Faucz F, Finkielstain GP, Nikita ME, Rothenbuhler A, Almeida M, Mericq V, Stratakis CA., Free PMC Article | 06/28/2010 |
| phosphodiesterase 8B has a role in autosomal-dominant striatal degeneration | Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G., Free PMC Article | 03/1/2010 |
| Genetic variation in thyroid stimulating hormone levels in pregnancy associated with the PDE8B rs4704397 genotype has implications for the number of women treated for subclinical hypothyroidism under current guidelines | Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.
Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B, Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B. | 01/21/2010 |
| PDE8B is another PDE gene linked to isolated micronodular adrenocortical disease; it is a candidate causative gene for other adrenocortical lesions linked to the cAMP signaling pathway and possibly for tumors in other tissues. | A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA., Free PMC Article | 01/21/2010 |
| results suggest a primary effect of PDE8B variants on cAMP levels in the thyroid. This would affect production of T4 and T3 and feedback to alter TSH release by the pituitary. | Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S, Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S., Free PMC Articles: PMC2427267, PMC2427267 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesPhosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.
Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B, Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B. 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 8B gene variants are associated with serum TSH levels and thyroid function.
Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S, Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S. | 06/11/2008 |
| selective usage of exons produces three different PDE8B variants that exhibit a tissue-specific expression pattern | Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene.
Hayashi M, Shimada Y, Nishimura Y, Hama T, Tanaka T. | 01/21/2010 |
| Comparison of enzymatic characterization and gene organization of PDE8B and PDE8A. | Comparison of enzymatic characterization and gene organization of cyclic nucleotide phosphodiesterase 8 family in humans.
Gamanuma M, Yuasa K, Sasaki T, Sakurai N, Kotera J, Omori K. | 01/21/2010 |