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Volumn 77, Issue 2, 2012, Pages 195-199

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

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; PHOSPHODIESTERASE; PHOSPHODIESTERASE 8 B; UNCLASSIFIED DRUG;

EID: 84863664769     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2012.04366.x     Document Type: Article
Times cited : (70)

References (16)
  • 1
    • 39049101528 scopus 로고    scopus 로고
    • Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia
    • Horvath, A., Mericq, V., &, Stratakis, C.A., (2008) Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. New England Journal of Medicine, 358, 750-752.
    • (2008) New England Journal of Medicine , vol.358 , pp. 750-752
    • Horvath, A.1    Mericq, V.2    Stratakis, C.A.3
  • 2
    • 53249142160 scopus 로고    scopus 로고
    • 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., et al,. (2008) 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. European Journal of Human Genetics 16, 1245-1253.
    • (2008) European Journal of Human Genetics , vol.16 , pp. 1245-1253
    • Horvath, A.1    Giatzakis, C.2    Tsang, K.3
  • 3
    • 79953012232 scopus 로고    scopus 로고
    • The high affinity cAMP-specific phosphodiesterase 8B (PDE8B) controls steroidogenesis in the mouse adrenal gland
    • Tsai, L.C., Shimizu-Albergine, M., &, Beavo, J.A., (2010) The high affinity cAMP-specific phosphodiesterase 8B (PDE8B) controls steroidogenesis in the mouse adrenal gland. Molecular Pharmacology, 79, 639-648.
    • (2010) Molecular Pharmacology , vol.79 , pp. 639-648
    • Tsai, L.C.1    Shimizu-Albergine, M.2    Beavo, J.A.3
  • 4
    • 33745548423 scopus 로고    scopus 로고
    • A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
    • Horvath, A., Boikos, S., Giatzakis, C., et al,. (2006) A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics 38, 794-800.
    • (2006) Nature Genetics , vol.38 , pp. 794-800
    • Horvath, A.1    Boikos, S.2    Giatzakis, C.3
  • 5
    • 33846242137 scopus 로고    scopus 로고
    • 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., et al,. (2006) Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Research 66, 11571-11575.
    • (2006) Cancer Research , vol.66 , pp. 11571-11575
    • Horvath, A.1    Giatzakis, C.2    Robinson-White, A.3
  • 6
    • 67650505040 scopus 로고    scopus 로고
    • Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors
    • Horvath, A., Korde, L., Greene, M.H., et al,. (2009) Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Research, 69, 5301-5306.
    • (2009) Cancer Research , vol.69 , pp. 5301-5306
    • Horvath, A.1    Korde, L.2    Greene, M.H.3
  • 7
    • 78650868311 scopus 로고    scopus 로고
    • Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer
    • Faucz, F.R., Horvath, A., Rothenbuhler, A., et al,. (2011) Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. Journal of Clinical Endocrinology and Metabolism, 96, 135-140.
    • (2011) Journal of Clinical Endocrinology and Metabolism , vol.96 , pp. 135-140
    • Faucz, F.R.1    Horvath, A.2    Rothenbuhler, A.3
  • 8
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I.A., Schmidt, S., Peshkin, L., et al,. (2010) A method and server for predicting damaging missense mutations. Nature Methods 7, 248-249.
    • (2010) Nature Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 9
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S., &, Ng, P.C., (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols 4, 1073-1081.
    • (2009) Nature Protocols , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 10
    • 34547559084 scopus 로고    scopus 로고
    • SplicePort-an interactive splice-site analysis tool
    • Dogan, R.I., Getoor, L., Wilbur, W.J., et al,. (2007) SplicePort-an interactive splice-site analysis tool. Nucleic Acids Research 35, 285-291.
    • (2007) Nucleic Acids Research , vol.35 , pp. 285-291
    • Dogan, R.I.1    Getoor, L.2    Wilbur, W.J.3
  • 11
    • 52449114622 scopus 로고    scopus 로고
    • Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors
    • Libe, R., Fratticci, A., Coste, J., et al,. (2008) Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clinical Cancer Research 14, 4016-4024.
    • (2008) Clinical Cancer Research , vol.14 , pp. 4016-4024
    • Libe, R.1    Fratticci, A.2    Coste, J.3
  • 12
    • 78650898282 scopus 로고    scopus 로고
    • 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
    • Libe, R., Horvath, A., Vezzosi, D., et al,. (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. Journal of Clinical Endocrinology and Metabolism, 96, 208-214.
    • (2011) Journal of Clinical Endocrinology and Metabolism , vol.96 , pp. 208-214
    • Libe, R.1    Horvath, A.2    Vezzosi, D.3
  • 13
    • 0027967028 scopus 로고
    • Clonal composition of human adrenocortical neoplasms
    • Beuschlein, F., Reincke, M., Karl, M., et al,. (1994) Clonal composition of human adrenocortical neoplasms. Cancer Research, 54, 4927-4932.
    • (1994) Cancer Research , vol.54 , pp. 4927-4932
    • Beuschlein, F.1    Reincke, M.2    Karl, M.3
  • 15
    • 0033812849 scopus 로고    scopus 로고
    • Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
    • Kirschner, L.S., Carney, J.A., Pack, S.D., et al,. (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nature Genetics, 26, 89-92.
    • (2000) Nature Genetics , vol.26 , pp. 89-92
    • Kirschner, L.S.1    Carney, J.A.2    Pack, S.D.3
  • 16
    • 0036907704 scopus 로고    scopus 로고
    • Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: Augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD
    • Groussin, L., Kirschner, L.S., Vincent-Dejean, C., et al,. (2002) Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. American Journal of Human Genetics, 71, 1433-1442.
    • (2002) American Journal of Human Genetics , vol.71 , pp. 1433-1442
    • Groussin, L.1    Kirschner, L.S.2    Vincent-Dejean, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.