C
Christoforos Giatzakis
Researcher at National Institutes of Health
Publications - 9
Citations - 1857
Christoforos Giatzakis is an academic researcher from National Institutes of Health. The author has contributed to research in topics: PRKAR1A & Mutation. The author has an hindex of 3, co-authored 9 publications receiving 1749 citations.
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Journal ArticleDOI
Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex
Lawrence S. Kirschner,J A Carney,Svetlana Pack,Susan E. Taymans,Christoforos Giatzakis,Y S Cho,Yoon S. Cho-Chung,Constantine A. Stratakis +7 more
TL;DR: It is concluded that germline mutations in PRKAR1A, an apparent tumour-suppressor gene, are responsible for the CNC phenotype in a subset of patients with this disease.
Journal ArticleDOI
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Anelia Horvath,Sosipatros Boikos,Christoforos Giatzakis,Audrey Robinson-White,Lionel Groussin,Kurt J. Griffin,Erica V. Stein,Elizabeth Levine,Georgia Delimpasi,Hui Pin Hsiao,Meg Keil,Sarah L. Heyerdahl,Ludmila Matyakhina,Rossella Libé,Amato Fratticci,Lawrence S. Kirschner,Kevin Cramer,Rolf C. Gaillard,Xavier Bertagna,J. Aidan Carney,Jérôme Bertherat,Ioannis Bossis,Constantine A. Stratakis +22 more
TL;DR: Tumor tissues showed 2q31–2q35 LOH, decreased protein expression and high cyclic nucleotide levels and cAMP-responsive element binding protein (CREB) phosphorylation, suggesting another means by which dysregulation of cAMP signaling causes endocrine tumors.
Journal ArticleDOI
Comparative genomic hybridization analysis of adrenocortical tumors of childhood.
Bonald C. Figueiredo,Bonald C. Figueiredo,Constantine A. Stratakis,Constantine A. Stratakis,Romolo Sandrini,Luiz DeLacerda,Mara A. D. Pianovsky,Christoforos Giatzakis,Hannah M. Young,Bassem R. Haddad +9 more
TL;DR: Both benign and malignant ACT from southern Brazil show multiple genetic aberrations, including a consistent gain of chromosomal region 9q34, which may harbor genetic defects that predispose to ACT formation and are shared by the patients who were investigated in this study.
Journal ArticleDOI
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Anelia Horvath,Christoforos Giatzakis,Audrey Robinson-White,Sosipatros Boikos,Elizabeth Levine,Kurt J. Griffin,Erica V. Stein,Virginia Kamvissi,Payal D. Soni,Ioannis Bossis,Wouter W. de Herder,J. Aidan Carney,Jérôme Bertherat,Peter K. Gregersen,Elaine F. Remmers,Constantine A. Stratakis +15 more
TL;DR: It is concluded that missense mutations of the PDE11A gene that affect enzymatic activity in vitro are present in the general population and may also contribute to a predisposition to other tumors, in addition to their association with adrenocortical hyperplasia.
Journal ArticleDOI
Large deletions of the PRKAR1A gene in Carney complex.
Anelia Horvath,Ioannis Bossis,Christoforos Giatzakis,Elizabeth Levine,Frank Weinberg,Elise Meoli,Audrey Robinson-White,Jennifer Siegel,Payal D. Soni,Lionel Groussin,Ludmila Matyakhina,Somya Verma,Elaine F. Remmers,M Nesterova,J A Carney,Jérôme Bertherat,C. A. Stratakis +16 more
TL;DR: Large PRKar1A deletions may be responsible for Carney complex in patients that do not have PRKAR1A gene defects identifiable by sequencing, and preliminary data indicate that these patients may have a different phenotype especially if their defect results in an expressed, abnormal version of the PRK AR1A protein.