Carney complex: an update

R Correa, P Salpea, CA Stratakis - European Journal of …, 2015 - academic.oup.com
Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by
pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and …

[HTML][HTML] Carney complex

CDC Kamilaris, FR Faucz, A Voutetakis… - Experimental and …, 2019 - thieme-connect.com
Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and
lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which …

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

J Bertherat, A Horvath, L Groussin… - 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 …

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

S Espiard, L Drougat, R Libé, G Assié… - The Journal of …, 2015 - academic.oup.com
Context: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of
primary adrenal Cushing's syndrome (CS). ARMC5 germline mutations have been identified …

Adrenocortical cancer: pathophysiology and clinical management

R Libe, A Fratticci, J Bertherat - Endocrine-related cancer, 2007 - erc.bioscientifica.com
Adrenocortical cancer (ACC) is a rare tumor with a poor prognosis. By contrast, benign
adrenocortical tumors are frequent, underlying the importance of a correct diagnosis of …

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

A Horvath, J Bertherat, L Groussin… - Human …, 2010 - Wiley Online Library
PRKAR1A encodes the regulatory subunit type 1‐alpha (RIα) of the cyclic adenosine
monophosphate (cAMP)‐dependent protein kinase (PKA). Inactivating PRKAR1A mutations …

What did we learn from the molecular biology of adrenal cortical neoplasia? From histopathology to translational genomics

CC Juhlin, J Bertherat, TJ Giordano, GD Hammer… - Endocrine …, 2021 - Springer
Approximately one-tenth of the general population exhibit adrenal cortical nodules, and the
incidence has increased. Afflicted patients display a multifaceted symptomatology …

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene

L Bouys, J Bertherat - European Journal of Endocrinology, 2021 - academic.oup.com
Described for the first time in 1985, Carney complex (CNC) is a rare dominantly inherited
multiple neoplasia syndrome with almost full penetrance and characterized by both …

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics

P Salpea, CA Stratakis - Molecular and cellular endocrinology, 2014 - Elsevier
Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of
endocrine and non-endocrine organs associated with other clinical manifestations. This …

Aberrant G‐protein coupled receptor expression in relation to adrenocortical overfunction

A Lacroix, I Bourdeau, A Lampron… - Clinical …, 2010 - Wiley Online Library
The aberrant adrenal expression and function of one or several G‐protein coupled receptors
can lead to cell proliferation and abnormal regulation of steroidogenesis in unilateral …