Search Results - "Stergiopoulos, S G"

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

A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions by Griffin, K J, Kirschner, L S, Matyakhina, L, Stergiopoulos, S G, Robinson-White, A, Lenherr, S M, Weinberg, F D, Claflin, E S, Batista, D, Bourdeau, I, Voutetakis, A, Sandrini, F, Meoli, E M, Bauer, A J, Cho-Chung, Y S, Bornstein, S R, Carney, J A, Stratakis, C A

“…Background: Inactivation of the human type Iα regulatory subunit (RIα) of cyclic AMP dependent protein kinase (PKA) (PRKAR1A) leads to altered kinase activity,…”
Get full text

Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease by Stergiopoulos, Sotirios G., Stratakis, Constantine A.

“…Carney complex (CNC) is a multiple neoplasia syndrome that consists of endocrine (thyroid, pituitary, adrenocortical and gonadal), non-endocrine (myxomas, nevi…”
Get full text

The function of protein kinase A (PKA) in visceral adipose tissue from patients with Cushing's syndrome by Stergiopoulos, S G, Weinberg, F, Bauer, A, Batista, D

Get full text

Protein kinase A activity in the pituitary gland of mice expressing the PRKAR1A antisense construct by Batista, D L, Stergiopoulos, S G, Griffin, K J, Weinberg, F, Stratakis, C A

Get full text

Hereditary Leiomyomatosis Associated with Bilateral, Massive, Macronodular Adrenocortical Disease and Atypical Cushing Syndrome: A Clinical and Molecular Genetic Investigation by Matyakhina, Ludmila, Freedman, Reneé J., Bourdeau, Isabelle, Wei, Ming-Hui, Stergiopoulos, Sotirios G., Chidakel, Aaron, Walther, McClellan, Abu-Asab, Mones, Tsokos, Maria, Keil, Meg, Toro, Jorge, Linehan, W. Marston, Stratakis, Constantine A.

“…Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder caused by mutations in the fumarate hydratase (FH) gene on chromosome…”
Get full text

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

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

A transgenic mouse bearing an antisense construct of regulatory subunit type 1 A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions by GRIFFIN, K. J, KIRSCHNER, L. S, VOUTETAKIS, A, SANDRINI, F, MEOLI, E. M, BAUER, A. J, CHO-CHUNG, Y. S, BORNSTEIN, S. R, CARNEY, J. A, STRATAKIS, C. A, MATYAKHINA, L, STERGIOPOULOS, S. G, ROBINSON-WHITE, A, LENHERR, S. M, WEINBERG, F. D, CLAFLIN, E. S, BATISTA, D, BOURDEAU, I

Get full text