The cAMP-dependent protein kinase (PKA) system represents a primary cell-signaling
pathway throughout systems and across species. PKA facilitates the actions of hormones …

Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by
pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and …

Disclaimer: The practice guidelines of the American College of Medical Genetics and
Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed …

This volume covers tumors of the pituary, the thyroid and parathyroid, the adrenal gland, the
endocrine pancreas, and inherited tumor syndromes. Each entity is extensively discussed …

Upstream ORFs (uORFs) are mRNA elements defined by a start codon in the 5′ UTR that is
out-of-frame with the main coding sequence. Although uORFs are present in approximately …

Background: The “complex of myxomas, spotty skin pigmentation, and endocrine
overactivity,” or “Carney complex”(CNC), is caused by inactivating mutations of the …

Translation regulation plays important roles in both normal physiological conditions and
diseases states. This regulation requires cis‐regulatory elements located mostly in 5′ and …

Adrenocortical cancer is a rare cancer with a very poor prognosis. The genetic alterations
identified to date in adrenocortical tumors are limited. Activating mutations of the Wnt …

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 …

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 …