Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia

被引：138

作者：

Horvath, Anelia ^{[1
]}

Mericq, Veronica ^{[2
]}

Stratakis, Constantine A. ^{[1
]}

机构：

[1] NICHHD, Bethesda, MD 20892 USA

[2] Univ Chile, Santiago, Chile

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2008年 / 358卷 / 07期

关键词：

D O I：

10.1056/NEJMc0706182

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

引用

收藏

页码：750 / 752

页数：3

相关论文

共 5 条

[1]

Cyclic nucleotide phosphodiesterases: Molecular regulation to clinical use [J].

Bender, Andrew T. ;

Beavo, Joseph A. .

PHARMACOLOGICAL REVIEWS, 2006, 58 (03) :488-520

[2]

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia [J].

Horvath, Anelia ;

Boikos, Sosipatros ;

Giatzakis, Christoforos ;

Robinson-White, Audrey ;

Groussin, Lionel ;

Griffin, Kurt J. ;

Stein, Erica ;

Levine, Elizabeth ;

Delimpasi, Georgia ;

Hsiao, Hui Pin ;

Keil, Meg ;

Heyerdahl, Sarah ;

Matyakhina, Ludmila ;

Libe, Rossella ;

Fratticci, Amato ;

Kirschner, Lawrence S. ;

Cramer, Kevin ;

Gaillard, Rolf C. ;

Bertagna, Xavier ;

Carney, J. Aidan ;

Bertherat, Jerome ;

Bossis, Ioannis ;

Stratakis, Constantine A. .

NATURE GENETICS, 2006, 38 (07) :794-800

[3]

Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population [J].

Horvath, Anelia ;

Giatzakis, Christoforos ;

Robinson-White, Audrey ;

Boikos, Sosipatros ;

Levine, Elizabeth ;

Griffin, Kurt ;

Stein, Erica ;

Kamvissi, Virginia ;

Soni, Payal ;

Bossis, Ioannis ;

de Herder, Wouter ;

Carney, J. Aidan ;

Bertherat, Jerome ;

Gregersen, Peter K. ;

Remmers, Elaine F. ;

Stratakis, Constantine A. .

CANCER RESEARCH, 2006, 66 (24) :11571-11575

[4]

Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex [J].

Kirschner, LS ;

Carney, JA ;

Pack, SD ;

Taymans, SE ;

Giatzakis, C ;

Cho, YS ;

Cho-Chung, YS ;

Stratakis, CA .

NATURE GENETICS, 2000, 26 (01) :89-92

[5]

Genetics of adrenocortical tumors: gatekeepers, landscapers and conductors in symphony [J].

Stratakis, CA .

TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2003, 14 (09) :404-410