ReviewMolecular and cellular endocrinology2014
Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
Review in Molecular and cellular endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 125 citations in OpenAlex.
- Fibrous dysplasia in a patient with Carney complex.Hormones (Athens, Greece) · 2026Review
- Intramuscular Myxoma: Results from the Largest European Single-Center Study-Clinical and Pathological Findings and Syndromal Associations.Diagnostics (Basel, Switzerland) · 2026Article
- The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.The Journal of clinical endocrinology and metabolism · 2025Article
- Protein kinase A and local signaling in cancer.The Biochemical journal · 2024Review
- Discovery and Synthesis of a Naturally Derived Protein Kinase Inhibitor that Selectively Inhibits Distinct Classes of Serine/Threonine Kinases.Journal of natural products · 2023Article
- Oncogenic PKA signaling increases c-MYC protein expression through multiple targetable mechanisms.eLife · 2023Article
- A Novel Missense PRKAR1A Variant Causes Carney Complex.Endocrinology and metabolism (Seoul, Korea) · 2022Article
- Genetic Basis of ACTH-Secreting Adenomas.International journal of molecular sciences · 2022Review
- Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- An Update on Pituitary Neuroendocrine Tumors Leading to Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- Unbiased Proteomic Profiling Uncovers a Targetable GNAS/PKA/PP2A Axis in Small Cell Lung Cancer Stem Cells.Cancer cell · 2020Article
- Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.American journal of hypertension · 2020Article
- Auxological and Endocrinological Features in Children With McCune Albright Syndrome: A Review.Frontiers in endocrinology · 2020Review
- Genetic and Epigenetic Causes of Pituitary Adenomas.Frontiers in endocrinology · 2020Review
- The Genetics of Pituitary Adenomas.Journal of clinical medicine · 2019Review
- Craniofacial fibrous dysplasia associated with McCune-Albright syndrome: challenges in diagnosis and treatment: case reports.BMC oral health · 2019Article
- SomaticJournal of the Endocrine Society · 2019Article
- A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone.BMC endocrine disorders · 2019Article
- Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.Frontiers in genetics · 2019Article
- Mystery behind labial and oral melanotic macules: Clinical, dermoscopic and pathological aspects of Laugier-Hunziker syndrome.World journal of clinical cases · 2018Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of endocrine and non-endocrine organs associated with other clinical manifestations. This study outlines the main clinical features, genetic basis, and molecular mechanisms behind two multiple endocrine neoplasia syndromes that share quite a bit of similarities, but one can be inherited whereas the other is always sporadic, Carney complex (CNC) and McCune-Albright (MAS), respectively. Spotty skin pigmentation, cardiac and other myxomas, and different types of endocrine tumors and other characterize Carney complex, which is caused largely by inactivating Protein kinase A, regulatory subunit, type I, Alpha (PRKAR1A) gene mutations. The main features of McCune-Albright are fibrous dysplasia of bone (FD), café-au-lait macules and precocious puberty; the disease is caused by activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating activity polypeptide (GNAS) gene which are always somatic. We review the clinical manifestations of the two syndromes and provide an update on their molecular genetics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.