PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A (original) (raw)

The American Journal of Human Genetics, 2002

A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer

The Journal of Clinical Endocrinology & Metabolism, 2012

Protein kinase A and its role in human neoplasia: the Carney complex paradigm

Endocrine Related Cancer, 2004

Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!

Sotirios Stergiopoulos

FEBS Letters, 2003

The Transcriptome that Mediates Increased Cyclic Adenosine Monophosphate Signaling in Prkar1a Defects and Other Settings

Endocrine Practice, 2011

E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors

The Journal of clinical endocrinology and metabolism, 2014

17Q22-24 Chromosomal Losses and Alterations of Protein Kinase a Subunit Expression and Activity in Adrenocorticotropin-Independent Macronodular Adrenal Hyperplasia

The Journal of clinical endocrinology and metabolism, 2006

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

Sotirios Stergiopoulos, Thalia Bei

Cancer research, 2003

Protein kinase A defects and cortisol-producing adrenal tumors

Current opinion in endocrinology, diabetes, and obesity, 2015

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

Edra London

Genetics in Medicine, 2020

Clinical and molecular genetics of primary pigmented nodular adrenocortical disease

Arquivos Brasileiros de Endocrinologia & Metabologia, 2004

atualiza��o Clinical and Molecular Genetics of Primary Pigmented Nodular Adrenocortical Disease

2004

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes

The Journal of clinical endocrinology and metabolism, 2009

Molecular and Functional Analysis of PRKAR1A and its Locus (17q2224) in Sporadic Adrenocortical Tumors

Cancer research, 2003

Novel Somatic Mutations in the Catalytic Subunit of the Protein Kinase A as a Cause of Adrenal Cushing's Syndrome: A European Multicentric Study

Giorgio Arnaldi

The Journal of Clinical Endocrinology & Metabolism, 2014

Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A

Adda Grimberg

Growth hormone & IGF research, 2007

PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex

Journal of Medical Genetics, 2002

Clinical and molecular genetics of Carney complex

Best Practice & Research Clinical Endocrinology & Metabolism, 2010

A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease

Objoon Trachoo

Case Reports in Oncology, 2017

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

Christoforos Giatzakis

Nature Genetics, 2000

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

Laura Mazzanti

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2016

Mutation of Prkar1a Causes Osteoblast Neoplasia Driven by Dysregulation of Protein Kinase A

Lawrence Kirschner

Molecular Endocrinology, 2008

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

Luciana Brito

Arquivos Brasileiros de Endocrinologia & Metabologia, 2008

Called and uncalled for functions of the main catalytic subunit of protein kinase A: one enzyme, many faces

Endocrinology, 2019

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

Glenn Braunstein

European Journal of Endocrinology, 2015