Literature DB >> 23485729

cAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse.

Constantine A Stratakis1.   

Abstract

In the last few years, bench and clinical studies led to significant new insight into how cyclic adenosine monophosphate (cAMP) signaling, the molecular pathway that had been identified in the early 2000s as the one involved in most benign cortisol-producing adrenal hyperplasias, affects adrenocortical growth and development, as well as tumor formation. A major discovery was the identification of tissue-specific pluripotential cells (TSPCs) as the culprit behind tumor formation not only in the adrenal, but also in bone. 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. Published by Elsevier Ireland Ltd.

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Year:  2013        PMID: 23485729      PMCID: PMC3625474          DOI: 10.1016/j.mce.2013.01.015

Source DB:  PubMed          Journal:  Mol Cell Endocrinol        ISSN: 0303-7207            Impact factor:   4.102


  187 in total

1.  Neural crest-specific loss of Prkar1a causes perinatal lethality resulting from defects in intramembranous ossification.

Authors:  Georgette N Jones; Daphne R Pringle; Zhirong Yin; Michelle M Carlton; Kimerly A Powell; Michael B Weinstein; Ramiro E Toribio; Krista M D La Perle; Lawrence S Kirschner
Journal:  Mol Endocrinol       Date:  2010-06-09

2.  Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Authors:  Ute I Scholl; Carol Nelson-Williams; Peng Yue; Roger Grekin; Robert J Wyatt; Michael J Dillon; Robert Couch; Lisa K Hammer; Frances L Harley; Anita Farhi; Wen-Hui Wang; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-30       Impact factor: 11.205

3.  Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

Authors:  Rossella Libé; Anelia Horvath; Delphine Vezzosi; Amato Fratticci; Joel Coste; Karine Perlemoine; Bruno Ragazzon; Marine Guillaud-Bataille; Lionel Groussin; Eric Clauser; Marie-Laure Raffin-Sanson; Jennifer Siegel; Jason Moran; Limor Drori-Herishanu; Fabio Rueda Faucz; Maya Lodish; Maria Nesterova; Xavier Bertagna; Jerome Bertherat; Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2010-11-03       Impact factor: 5.958

4.  Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Authors:  Katherine A Janeway; Su Young Kim; Maya Lodish; Vânia Nosé; Pierre Rustin; José Gaal; Patricia L M Dahia; Bernadette Liegl; Evan R Ball; Margarita Raygada; Angela H Lai; Lorna Kelly; Jason L Hornick; Maureen O'Sullivan; Ronald R de Krijger; Winand N M Dinjens; George D Demetri; Cristina R Antonescu; Jonathan A Fletcher; Lee Helman; Constantine A Stratakis
Journal:  Proc Natl Acad Sci U S A       Date:  2010-12-20       Impact factor: 11.205

Review 5.  Hereditary paragangliomas.

Authors:  Margarita Raygada; Barbara Pasini; Constantine A Stratakis
Journal:  Adv Otorhinolaryngol       Date:  2011-02-24

6.  Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

Authors:  Delphine Vezzosi; Rossella Libé; Camille Baudry; Marthe Rizk-Rabin; Anelia Horvath; Isaac Levy; Fernande René-Corail; Bruno Ragazzon; Constantine A Stratakis; Grégoire Vandecasteele; Jérôme Bertherat
Journal:  J Clin Endocrinol Metab       Date:  2012-09-20       Impact factor: 5.958

7.  Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

Authors:  Fabio Rueda Faucz; Anelia Horvath; Anya Rothenbuhler; Madson Q Almeida; Rossella Libé; Marie-Laure Raffin-Sanson; Jerome Bertherat; Dirce Maria Carraro; Fernando Augusto Soares; Gustavo de Campos Molina; Antonio H Campos; Rodrigo B Alexandre; Marcelo Luiz Bendhack; Maria Nesterova; Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2010-09-29       Impact factor: 5.958

8.  Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.

Authors:  Anya Rothenbuhler; Anelia Horvath; Rossella Libé; Fabio R Faucz; Amato Fratticci; Marie L Raffin Sanson; Delphine Vezzosi; Monalisa Azevedo; Isaak Levy; Madson Q Almeida; Maya Lodish; Maria Nesterova; Jérôme Bertherat; Constantine A Stratakis
Journal:  Clin Endocrinol (Oxf)       Date:  2012-08       Impact factor: 3.478

9.  K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Authors:  Murim Choi; Ute I Scholl; Peng Yue; Peyman Björklund; Bixiao Zhao; Carol Nelson-Williams; Weizhen Ji; Yoonsang Cho; Aniruddh Patel; Clara J Men; Elias Lolis; Max V Wisgerhof; David S Geller; Shrikant Mane; Per Hellman; Gunnar Westin; Göran Åkerström; Wenhui Wang; Tobias Carling; Richard P Lifton
Journal:  Science       Date:  2011-02-11       Impact factor: 47.728

10.  Hippocampal long-term depression and depotentiation are defective in mice carrying a targeted disruption of the gene encoding the RI beta subunit of cAMP-dependent protein kinase.

Authors:  E P Brandon; M Zhuo; Y Y Huang; M Qi; K A Gerhold; K A Burton; E R Kandel; G S McKnight; R L Idzerda
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-12       Impact factor: 11.205

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  18 in total

Review 1.  Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Authors:  Paraskevi Salpea; Constantine A Stratakis
Journal:  Mol Cell Endocrinol       Date:  2013-09-05       Impact factor: 4.102

Review 2.  The G protein Gαs acts as a tumor suppressor in sonic hedgehog signaling-driven tumorigenesis.

Authors:  Rohit Rao; Ralph Salloum; Mei Xin; Q Richard Lu
Journal:  Cell Cycle       Date:  2016-05-18       Impact factor: 4.534

Review 3.  Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics.

Authors:  Constantine A Stratakis
Journal:  Endocrinol Metab Clin North Am       Date:  2016-06       Impact factor: 4.741

Review 4.  Phosphodiesterases and adrenal Cushing in mice and humans.

Authors:  E Szarek; C A Stratakis
Journal:  Horm Metab Res       Date:  2014-09-18       Impact factor: 2.936

5.  Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function.

Authors:  A Berthon; F R Faucz; S Espiard; L Drougat; J Bertherat; C A Stratakis
Journal:  Hum Mol Genet       Date:  2017-09-15       Impact factor: 6.150

6.  Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

Authors:  Maya B Lodish; Bo Yuan; Isaac Levy; Glenn D Braunstein; Charalampos Lyssikatos; Paraskevi Salpea; Eva Szarek; Alexander S Karageorgiadis; Elena Belyavskaya; Margarita Raygada; Fabio Rueda Faucz; Louise Izzat; Caroline Brain; James Gardner; Martha Quezado; J Aidan Carney; James R Lupski; Constantine A Stratakis
Journal:  Eur J Endocrinol       Date:  2015-06       Impact factor: 6.664

Review 7.  Adrenal cancer in 2013: Time to individualize treatment for adrenocortical cancer?

Authors:  Constantine A Stratakis
Journal:  Nat Rev Endocrinol       Date:  2014-01-07       Impact factor: 43.330

8.  E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors.

Authors:  Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2014-10       Impact factor: 5.958

9.  Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

Authors:  Felix Beuschlein; Martin Fassnacht; Guillaume Assié; Davide Calebiro; Constantine A Stratakis; Andrea Osswald; Cristina L Ronchi; Thomas Wieland; Silviu Sbiera; Fabio R Faucz; Katrin Schaak; Anett Schmittfull; Thomas Schwarzmayr; Olivia Barreau; Delphine Vezzosi; Marthe Rizk-Rabin; Ulrike Zabel; Eva Szarek; Paraskevi Salpea; Antonella Forlino; Annalisa Vetro; Orsetta Zuffardi; Caroline Kisker; Susanne Diener; Thomas Meitinger; Martin J Lohse; Martin Reincke; Jérome Bertherat; Tim M Strom; Bruno Allolio
Journal:  N Engl J Med       Date:  2014-02-26       Impact factor: 91.245

10.  cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.

Authors:  Graeme B Bolger; Mariana F Bizzi; Sergio V Pinheiro; Giampaolo Trivellin; Lisa Smoot; Mary-Ann Accavitti; Márta Korbonits; Antonio Ribeiro-Oliveira
Journal:  Endocr Relat Cancer       Date:  2016-05       Impact factor: 5.678

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