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

Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes

(2015) J. Aidan Carney et al.   HUMAN PATHOLOGY

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

(2014) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication]

(2014) Yasuyo Nakajima et al.   ENDOCRINE JOURNAL

Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas

(2014) Sarah J Larkin et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

E Pluribus Unum? The Main Protein Kinase A Catalytic Subunit (PRKACA), a Likely Oncogene, and Cortisol-Producing Tumors

(2014) Constantine A. Stratakis   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2014) Guido Di Dalmazi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

(2014) Gerald Goh et al.   NATURE GENETICS

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

(2014) Felix Beuschlein et al.   NEW ENGLAND JOURNAL OF MEDICINE

A unified cause for adrenal Cushing's syndrome

(2014) L. S. Kirschner   SCIENCE

Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome

(2014) Y. Cao et al.   SCIENCE

Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma

(2014) J. N. Honeyman et al.   SCIENCE

Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome

(2014) Y. Sato et al.   SCIENCE

cAMP/PKA signaling defects in tumors: Genetics and tissue-specific pluripotential cell-derived lesions in human and mouse

(2013) Constantine A. Stratakis   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Massive Neonatal Adrenal Enlargement Due to Cytomegaly, Persistence of the Transient Cortex, and Hyperplasia of the Permanent Cortex

(2012) J. Aidan Carney et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA)

(2012) Kristoffer Søberg et al.   PLoS One

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone

(2010) K. M. Tsang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Protein Kinase A Effects of an Expressed PRKAR1A Mutation Associated with Aggressive Tumors

(2008) E. Meoli et al.   CANCER RESEARCH