Search Results - "Stratakis, C. A"

The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney–Stratakis syndrome): molecular genetics and clinical implications by Stratakis, C. A., Carney, J. A.

“… Carney triad (CT) describes the association of paragangliomas (PGLs) with gastrointestinal stromal tumours (GISTs) and pulmonary chondromas (PCH). A number…”
Get full text

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes by Pasini, B., Stratakis, C. A.

“… A genetic predisposition for paragangliomas and adrenal or extra‐adrenal phaeochromocytomas was recognized years ago. Beside the well‐known syndromes…”
Get full text

Functional screen analysis reveals miR-26b and miR-128 as central regulators of pituitary somatomammotrophic tumor growth through activation of the PTEN–AKT pathway by Palumbo, T, Faucz, F R, Azevedo, M, Xekouki, P, Iliopoulos, D, Stratakis, C A

“…MicroRNAs (miRNAs) have been involved in the pathogenesis of different types of cancer; however, their function in pituitary tumorigenesis remains poorly…”
Get full text

Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature by Chatzikonstantinou, S, Kazis, D, Giannakopoulou, P, Poulios, P, Pikou, O, Geroukis, T, Lyssikatos, C, Stratakis, C A, Bostanjopoulou, S

“…"Carney Complex (CNC) is a familial lentiginosis syndrome, caused by mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway…”
Get full text

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 by Stratakis, CA, Tichomirowa, MA, Boikos, S, Azevedo, MF, Lodish, M, Martari, M, Verma, S, Daly, AF, Raygada, M, Keil, MF, Papademetriou, J, Drori-Herishanu, L, Horvath, A, Tsang, KM, Nesterova, M, Franklin, S, Vanbellinghen, J-F, Bours, V, Salvatori, R, Beckers, A

“…Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori‐Herishanu L, Horvath A,…”
Get full text

Vandetanib Successfully Controls Medullary Thyroid Cancer-Related Cushing Syndrome in an Adolescent Patient by Nella, A. A, Lodish, M. B, Fox, E, Balis, F. M, Quezado, M. M, Whitcomb, P. O, Derdak, J, Kebebew, E, Widemann, B. C, Stratakis, C. A

“…Context: Ectopic Cushing syndrome due to ACTH secretion from metastatic medullary thyroid cancer (MTC) is associated with significant morbidity and mortality…”
Get full text

Lipoprotein Particles in Adolescents and Young Women With PCOS Provide Insights Into Their Cardiovascular Risk by Gourgari, E, Lodish, M, Shamburek, R, Keil, M, Wesley, R, Walter, M, Sampson, M, Bernstein, S, Khurana, D, Lyssikatos, C, Ten, S, Dobs, A, Remaley, A. T, Stratakis, C. A

“…Context: Adult women with polycystic ovarian syndrome (PCOS) have an increased risk for cardiovascular disease, but the evidence for this is controversial in…”
Get full text

Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion by Guillaud Bataille, M, Rhayem, Y, Sousa, S B, Libé, R, Dambrun, M, Chevalier, C, Nigou, M, Auzan, C, North, M O, Sa, J, Gomes, L, Salpea, P, Horvath, A, Stratakis, C A, Hamzaoui, N, Bertherat, J, Clauser, E

“…BackgroundPoint mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in…”
Get full text

Dependence of the Excitability of Pituitary Cells on Cyclic Nucleotides by Stojilkovic, S. S., Kretschmannova, K., Tomić, M., Stratakis, C. A.

“…Cyclic 3′,5′‐adenosine monophosphate and cyclic 3′,5′‐guanosine monophosphate are intracellular (second) messengers that are produced from the nucleotide…”
Get full text

Multiple endocrine neoplasias: advances and challenges for the future by Alevizaki, M., Stratakis, C. A.

“… Several important advances have been made over the last 2 years, since the last international workshop on multiple endocrine neoplasias (MENs) that was held…”
Get full text

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency by Castinetti, F, Daly, A F, Stratakis, C A, Caberg, J-H, Castermans, E, Trivellin, G, Rostomyan, L, Saveanu, A, Jullien, N, Reynaud, R, Barlier, A, Bours, V, Brue, T, Beckers, A

“…Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone…”
Get more information

Threat bias in mice with inactivating mutations of Prkar1a by Keil, M.F, Briassoulis, G, Nesterova, M, Miraftab, N, Gokarn, N, Wu, T.J, Stratakis, C.A

“…Highlights • Prkar1a mice exhibit an anxiety-like phenotype associated with increased protein kinase A (PKA) activity in the amygdala. • Prkar1a mice are a…”
Get full text

Protein kinase A and its role in human neoplasia: the Carney complex paradigm by Bossis, I, Voutetakis, A, Bei, T, Sandrini, F, Griffin, K J, Stratakis, C A

“…The type 1 alpha regulatory subunit (R1alpha) of cAMP-dependent protein kinase A (PKA) (PRKAR1A) is an important regulator of the serine-threonine kinase…”
Get full text

Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits by Tilkeridis, C, Bei, T, Garantziotis, S, Stratakis, C A

“…Background: Lumbar disc disease (LDD), one of the most common conditions for which patients seek medical care, has been associated with sequence changes of the…”
Get full text

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005 by Brooks, BP, Kleta, R, Stuart, C, Tuchman, M, Jeong, A, Stergiopoulos, SG, Bei, T, Bjornson, B, Russell, L, Chanoine, J-P, Tsagarakis, S, Kalsner, LR, Stratakis, CA

“…Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and…”
Get full text

Pituitary macroadenoma in a 5-year-old : An early expression of multiple endocrine neoplasia type 1 by STRATAKIS, Constantine A, SCHUSSHEIM, Debra H, OLDFIELD, Edward H, MARX, Stephen J, FREEDMAN, Samuel M, KEIL, Margaret F, PACK, Svetlana D, AGARWAL, Sunita K, SKARULIS, Monica C, WEIL, Robert J, LUBENSKY, Irina A, ZHENGPING ZHUANG

“…Multiple endocrine neoplasia type 1 (MEN 1) is associated with parathyroid, enteropancreatic, pituitary, and other tumors. The MEN1 gene, a tumor suppressor,…”
Get full text

Multiple Endocrine Neoplasia – Introduction by MARX, S. J., STRATAKIS, C. A.

“… Each multiple endocrine neoplasia (MEN) syndrome expresses striking features of hormone oversecretion from its own characteristic group of tissues…”
Get full text

Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function by Berthon, A, Faucz, F R, Espiard, S, Drougat, L, Bertherat, J, Stratakis, C A

“…Inactivating mutations in the Armadillo repeat-containing 5 (ARMC5) gene have recently been discovered in primary macronodular adrenal hyperplasia (PMAH), a…”
Get full text

The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis by Bauer, A J, Stratakis, C A

“…Familial lentiginosis syndromes cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous lentigines unassociated…”
Get full text

Molecular mechanisms of medullary thyroid carcinoma: current approaches in diagnosis and treatment by Boikos, S A, Stratakis, C A

“…Medullary thyroid carcinoma is the most common cause of death among patients with multiple endocrine neoplasia (MEN) 2. Dominant-activating mutations in the…”
Get full text