Concepedia

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

Ludivine Drougat, Nikolaos Settas, Cristina L. Ronchi, Kerstin Bathon, Davide Calebiro, Andréa Gutierrez Maria, Sara Haydar, Antonios Voutetakis, Edra London, Fábio R. Faucz,

Genetics in Medicine · 2020 · 20 citations · 34 references

DOIFull text

Open access

Concepts

References

34

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

Lawrence S. Kirschner, J. Aidan Carney, Svetlana Pack et al. · Nature Genetics · 2000 · 1.1K citations

, , +6

Detection of a Recurrent <i>DNAJB1-PRKACA</i> Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma

Joshua N. Honeyman, Elana P. Simon, Nicolas Robine et al. · Science · 2014 · 493 citations

, , +17

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (<i>PRKAR1A</i>): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Jérôme Bertherat, Anélia Horvath, Lionel Groussin et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 441 citations · Full text

, , +16

Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

Felix Beuschlein, Guillaume Assié, Davide Calebiro et al. · New England Journal of Medicine · 2014 · 431 citations · Full text

, , +14

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

Anélia Horvath, Sosipatros A. Boikos, Christoforos Giatzakis et al. · Nature Genetics · 2006 · 346 citations

, , +12