Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update-Reference-Cited by-同舟云学术

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

Published:2010-03-26 Issue:4 Volume:31 Page:369-379
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Horvath Anélia,Bertherat Jérôme,Groussin Lionel,Guillaud-Bataille Marine,Tsang Kitman,Cazabat Laure,Libé Rosella,Remmers Elaine,René-Corail Fernande,Faucz Fabio Rueda,Clauser Eric,Calender Alain,Bertagna Xavier,Carney J. Aidan,Stratakis Constantine A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. [Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X.];Almeida;Arq Bras Endocrinol Metabol,2008

2. The essential role of RI alpha in the maintenance of regulated PKA activity;Amieux;Ann NY Acad Sci,2002

3. Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity;Bertherat;Cancer Res,2003

4. Mutations in regulatory subunit type 1A of cyclic AMP-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes;Bertherat;J Clin Endocrinol Metab,2009

5. A 2.3 Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’;Blyth;Eur J Med Genet,2008

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