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

LS Kirschner, JA Carney, SD Pack, SE Taymans… - Nature …, 2000 - nature.com
Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin
pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic …

Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation

CA Stratakis, LS Kirschner… - The Journal of Clinical …, 2001 - academic.oup.com
Carney complex is a multiple neoplasia syndrome featuring cardiac, endocrine, cutaneous,
and neural tumors, as well as a variety of pigmented lesions of the skin and mucosae. …

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and …

…, E Clauser, A Calender, LS Kirschner… - The Journal of …, 2009 - academic.oup.com
Background: The “complex of myxomas, spotty skin pigmentation, and endocrine overactivity,”
or “Carney complex” (CNC), is caused by inactivating mutations of the regulatory subunit …

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex

LS Kirschner, F Sandrini, J Monbo, JP Lin… - Human molecular …, 2000 - academic.oup.com
Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome, which has
been linked to loci on 2p16 and 17q22–24. We recently reported that PRKAR1A, which …

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

…, L Matyakhina, R Libe, A Fratticci, LS Kirschner… - Nature …, 2006 - nature.com
Phosphodiesterases (PDEs) regulate cyclic nucleotide levels. Increased cyclic AMP (cAMP)
signaling has been associated with PRKAR1A or GNAS mutations and leads to …

Molecular and Functional Analysis of PRKAR1A and its Locus (17q22–24) in Sporadic Adrenocortical Tumors: 17q Losses, Somatic Mutations, and Protein Kinase A …

…, T Papageorgiou, I Bourdeau, LS Kirschner… - Cancer research, 2003 - AACR
Germ-line protein kinase A (PKA) regulatory-subunit type-Iα (RIα; PRKAR1A)-inactivating
mutations and loss-of-heterozygosity (LOH) of its 17q22–24 locus have been found in Cushing …

Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease

CA Stratakis, N Sarlis, LS Kirschner… - Annals of internal …, 1999 - acpjournals.org
Background: Primary pigmented nodular adrenocortical disease causes the Cushing syndrome
in children and young adults and is most frequently associated with the Carney complex. …

Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent …

HP Hsiao, LS Kirschner, I Bourdeau… - The Journal of …, 2009 - academic.oup.com
Objective: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is often associated
with subclinical cortisol secretion or atypical Cushing’s syndrome (CS). We characterized …

Identification of a novel genetic locus for familial cardiac myxomas and Carney complex

M Casey, C Mah, AD Merliss, LS Kirschner… - Circulation, 1998 - Am Heart Assoc
Background—Intracardiac myxomas are significant causes of cardiovascular morbidity and
mortality through embolic stroke and heart failure. In the autosomal dominant syndrome …

A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP–responsive tissues

LS Kirschner, DF Kusewitt, L Matyakhina, WH Towns… - Cancer research, 2005 - AACR
Carney complex is an autosomal dominant neoplasia syndrome characterized by spotty skin
pigmentation, myxomatosis, endocrine tumors, and schwannomas. This condition may be …