Literature DB >> 25511311

Genetics of adrenal diseases in 2014: Genetics improves understanding of adrenocortical tumours.

Xavier Bertagna1.   

Abstract

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Year:  2014        PMID: 25511311     DOI: 10.1038/nrendo.2014.215

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN: 1759-5029            Impact factor:   43.330


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  10 in total

1.  Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.

Authors:  Yusuke Sato; Shigekatsu Maekawa; Ryohei Ishii; Masashi Sanada; Teppei Morikawa; Yuichi Shiraishi; Kenichi Yoshida; Yasunobu Nagata; Aiko Sato-Otsubo; Tetsuichi Yoshizato; Hiromichi Suzuki; Yusuke Shiozawa; Keisuke Kataoka; Ayana Kon; Kosuke Aoki; Kenichi Chiba; Hiroko Tanaka; Haruki Kume; Satoru Miyano; Masashi Fukayama; Osamu Nureki; Yukio Homma; Seishi Ogawa
Journal:  Science       Date:  2014-05-23       Impact factor: 47.728

2.  Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.

Authors:  Felix Beuschlein; Sheerazed Boulkroun; Andrea Osswald; Thomas Wieland; Hang N Nielsen; Urs D Lichtenauer; David Penton; Vivien R Schack; Laurence Amar; Evelyn Fischer; Anett Walther; Philipp Tauber; Thomas Schwarzmayr; Susanne Diener; Elisabeth Graf; Bruno Allolio; Benoit Samson-Couterie; Arndt Benecke; Marcus Quinkler; Francesco Fallo; Pierre-Francois Plouin; Franco Mantero; Thomas Meitinger; Paolo Mulatero; Xavier Jeunemaitre; Richard Warth; Bente Vilsen; Maria-Christina Zennaro; Tim M Strom; Martin Reincke
Journal:  Nat Genet       Date:  2013-02-17       Impact factor: 38.330

3.  Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.

Authors:  Fabio Luiz Fernandes-Rosa; Tracy Ann Williams; Anna Riester; Olivier Steichen; Felix Beuschlein; Sheerazed Boulkroun; Tim M Strom; Silvia Monticone; Laurence Amar; Tchao Meatchi; Franco Mantero; Maria-Verena Cicala; Marcus Quinkler; Francesco Fallo; Bruno Allolio; Giampaolo Bernini; Mauro Maccario; Gilberta Giacchetti; Xavier Jeunemaitre; Paolo Mulatero; Martin Reincke; Maria-Christina Zennaro
Journal:  Hypertension       Date:  2014-05-27       Impact factor: 10.190

4.  ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

Authors:  Guillaume Assié; Rossella Libé; Stéphanie Espiard; Marthe Rizk-Rabin; Anne Guimier; Windy Luscap; Olivia Barreau; Lucile Lefèvre; Mathilde Sibony; Laurence Guignat; Stéphanie Rodriguez; Karine Perlemoine; Fernande René-Corail; Franck Letourneur; Bilal Trabulsi; Alix Poussier; Nathalie Chabbert-Buffet; Françoise Borson-Chazot; Lionel Groussin; Xavier Bertagna; Constantine A Stratakis; Bruno Ragazzon; Jérôme Bertherat
Journal:  N Engl J Med       Date:  2013-11-28       Impact factor: 91.245

5.  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

6.  Integrated genomic characterization of adrenocortical carcinoma.

Authors:  Guillaume Assié; Eric Letouzé; Martin Fassnacht; Anne Jouinot; Windy Luscap; Olivia Barreau; Hanin Omeiri; Stéphanie Rodriguez; Karine Perlemoine; Fernande René-Corail; Nabila Elarouci; Silviu Sbiera; Matthias Kroiss; Bruno Allolio; Jens Waldmann; Marcus Quinkler; Massimo Mannelli; Franco Mantero; Thomas Papathomas; Ronald De Krijger; Antoine Tabarin; Véronique Kerlan; Eric Baudin; Frédérique Tissier; Bertrand Dousset; Lionel Groussin; Laurence Amar; Eric Clauser; Xavier Bertagna; Bruno Ragazzon; Felix Beuschlein; Rossella Libé; Aurélien de Reyniès; Jérôme Bertherat
Journal:  Nat Genet       Date:  2014-04-20       Impact factor: 38.330

7.  Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.

Authors:  Yanan Cao; Minghui He; Zhibo Gao; Ying Peng; Yanli Li; Lin Li; Weiwei Zhou; Xiangchun Li; Xu Zhong; Yiming Lei; Tingwei Su; Hang Wang; Yiran Jiang; Lin Yang; Wei Wei; Xu Yang; Xiuli Jiang; Li Liu; Juan He; Junna Ye; Qing Wei; Yingrui Li; Weiqing Wang; Jun Wang; Guang Ning
Journal:  Science       Date:  2014-04-03       Impact factor: 47.728

8.  Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

Authors:  Elena A B Azizan; Hanne Poulsen; Petronel Tuluc; Junhua Zhou; Michael V Clausen; Andreas Lieb; Carmela Maniero; Sumedha Garg; Elena G Bochukova; Wanfeng Zhao; Lalarukh Haris Shaikh; Cheryl A Brighton; Ada E D Teo; Anthony P Davenport; Tanja Dekkers; Bas Tops; Benno Küsters; Jiri Ceral; Giles S H Yeo; Sudeshna Guha Neogi; Ian McFarlane; Nitzan Rosenfeld; Francesco Marass; James Hadfield; Wojciech Margas; Kanchan Chaggar; Miroslav Solar; Jaap Deinum; Annette C Dolphin; I Sadaf Farooqi; Joerg Striessnig; Poul Nissen; Morris J Brown
Journal:  Nat Genet       Date:  2013-08-04       Impact factor: 38.330

9.  Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

Authors:  Ute I Scholl; Gerald Goh; Gabriel Stölting; Regina Campos de Oliveira; Murim Choi; John D Overton; Annabelle L Fonseca; Reju Korah; Lee F Starker; John W Kunstman; Manju L Prasad; Erum A Hartung; Nelly Mauras; Matthew R Benson; Tammy Brady; Jay R Shapiro; Erin Loring; Carol Nelson-Williams; Steven K Libutti; Shrikant Mane; Per Hellman; Gunnar Westin; Göran Åkerström; Peyman Björklund; Tobias Carling; Christoph Fahlke; Patricia Hidalgo; Richard P Lifton
Journal:  Nat Genet       Date:  2013-08-04       Impact factor: 38.330

10.  Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Authors:  Gerald Goh; Ute I Scholl; James M Healy; Murim Choi; Manju L Prasad; Carol Nelson-Williams; John W Kunstman; John W Kuntsman; Reju Korah; Anna-Carinna Suttorp; Dimo Dietrich; Matthias Haase; Holger S Willenberg; Peter Stålberg; Per Hellman; Göran Akerström; Peyman Björklund; Tobias Carling; Richard P Lifton
Journal:  Nat Genet       Date:  2014-04-20       Impact factor: 38.330

  10 in total
  1 in total

Review 1.  Protein kinase A defects and cortisol-producing adrenal tumors.

Authors:  Mihail Zilbermint; Constantine A Stratakis
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2015-06       Impact factor: 3.243

  1 in total

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