Genomes and Genes
C A Stratakis
Affiliation: National Institutes of Health
- Stratakis C, Bossis I. Genetics of the adrenal gland. Rev Endocr Metab Disord. 2004;5:53-68 pubmed
- Stratakis C. cAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse. Mol Cell Endocrinol. 2013;371:208-20 pubmed publisher..Discoveries in animal studies complemented a number of clinical observations in patients. Gene identification continued in parallel with mouse and other studies on the cAMP signaling and other pathways. ..
- Stratakis C. An update on Cushing syndrome in pediatrics. Ann Endocrinol (Paris). 2018;79:125-131 pubmed publisher..This report reviews the state-of-the-art in diagnosing CS and provides an update on the most recent discoveries in its genetics and treatment. ..
- Stratakis C. Skin manifestations of Cushing's syndrome. Rev Endocr Metab Disord. 2016;17:283-286 pubmed..Typically, the severity of the manifestations does not correlate with the biochemical indices of the disease, pointing to age, gender, genetic and skin-type differences that determine the cutaneous manifestations of CS. ..
- Saloustros E, Salpea P, Starost M, Liu S, Faucz F, London E, et al. Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis. Endocr Relat Cancer. 2017;24:31-40 pubmed..In conclusion, this mouse model supports the role of prkar1a as a tumor suppressor gene in the pancreas and points to the PKA pathway as a possible therapeutic target for these lesions. ..
- Angelousi A, Zilbermint M, Berthon A, Espiard S, Stratakis C. Diagnosis and Management of Hereditary Adrenal Cancer. Recent Results Cancer Res. 2016;205:125-47 pubmed publisher..In these conditions, genetic counselling plays an important role for the early detection and follow-up of the patients and the affected family members. ..
- Hannah Shmouni F, Trivellin G, Stratakis C. Genetics of gigantism and acromegaly. Growth Horm IGF Res. 2016;30-31:37-41 pubmed publisher..In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. ..
- Stratakis C. Carney complex: A familial lentiginosis predisposing to a variety of tumors. Rev Endocr Metab Disord. 2016;17:367-371 pubmed..Other tumors associated with Carney complex include: 1) myxomas of the heart, breast and other sites; 2) psamommatous melanotic schwannomas which can become malignant; 4) a predisposition to a variety of cancers. ..
- Stratakis C. Hereditary syndromes predisposing to endocrine tumors and their skin manifestations. Rev Endocr Metab Disord. 2016;17:381-388 pubmed..In this review, we present extensively the MEN-1, MEN-2 and PJS syndromes, and briefly refer to CD, NF-1, and TSC. CNC is discussed in another article in this journal issue. ..
- Papadakis G, Millo C, Stratakis C. Benign hormone-secreting adenoma within a larger adrenocortical mass showing intensely increased activity on 18F-FDG PET/CT. Endocrine. 2016;54:269-270 pubmed..Right adrenalectomy was performed and histology revealed a benign adenoma, indicating that functioning benign adenomas can show intensely increased metabolic activity on 18F-FDG mimicking malignancy. ..
- Bandettini W, Karageorgiadis A, Sinaii N, Rosing D, Sachdev V, Schernthaner Reiter M, et al. Growth hormone and risk for cardiac tumors in Carney complex. Endocr Relat Cancer. 2016;23:739-46 pubmed publisher..We speculate that treatment of GH excess in patients with CNC may reduce the likelihood of cardiac myxoma formation and/or recurrence of this tumor. ..
- Tatsi C, Stratakis C. Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease. Clin Perinatol. 2018;45:103-118 pubmed publisher..Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia. ..
- Stratakis C. Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics. Endocrinol Metab Clin North Am. 2016;45:311-28 pubmed publisher..CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup. ..
- Saloustros E, Liu S, Mertz E, Bhattacharyya N, Starost M, Salpea P, et al. Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects. Mol Cell Endocrinol. 2017;439:165-174 pubmed publisher..We speculate that COX-2 inhibitors offer an attractive alternative to current treatments for benign tumors such as OMX and FD that, apart from tumor suppression, may mechanically stabilize affected bones. ..
- Hernández Ramírez L, Gam R, Valdés N, Lodish M, Pankratz N, Balsalobre A, et al. Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. Endocr Relat Cancer. 2017;24:379-392 pubmed publisher..Further studies are needed to assess the prevalence of CABLES1 mutations among patients with other types of pituitary adenomas and to elucidate the pituitary-specific functions of this gene. ..
- Alrezk R, Hannah Shmouni F, Stratakis C. MEN4 and CDKN1B mutations: the latest of the MEN syndromes. Endocr Relat Cancer. 2017;24:T195-T208 pubmed publisher..In this review, we report on the genetic characterization and clinical features of MEN4. ..
- Saloustros E, Salpea P, Qi C, Gugliotti L, Tsang K, Liu S, et al. Hematopoietic neoplasms in Prkar2a-deficient mice. J Exp Clin Cancer Res. 2015;34:143 pubmed publisher..Prkar2a deficiency predisposes to hematopoietic malignancies in vivo. RIIÎ±'s likely association with HS and DLBCL was hitherto unrecognized and may lead to better understanding of these rare neoplasms. ..
- Stratakis C, Tichomirowa M, Boikos S, Azevedo M, Lodish M, Martari M, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78:457-63 pubmed publisher..Thus, germline AIP or MEN1 gene mutations are frequent among pediatric patients with GH- or PRL-secreting PA but are significantly rarer in pediatric CD; PRKAR1A mutations are not present in PA outside of Carney complex. ..
- Stratakis C. Cushing syndrome in pediatrics. Endocrinol Metab Clin North Am. 2012;41:793-803 pubmed publisher..Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. ..
- Trivellin G, Bjelobaba I, Daly A, Larco D, Palmeira L, Faucz F, et al. Characterization of GPR101 transcript structure and expression patterns. J Mol Endocrinol. 2016;57:97-111 pubmed publisher..These findings suggest an important role for GPR101 in brain and pituitary development and likely reflect the very different growth, development and maturation patterns among species. ..