Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: PRKACA[original query] |
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Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication]. Endocrine journal 2014 61 (8): 825-32. Nakajima Yasuyo, Okamura Takashi, Gohko Tamae, Satoh Tetsurou, Hashimoto Koshi, Shibusawa Nobuyuki, Ozawa Atsushi, Ishii Sumiyasu, Tomaru Takuya, Horiguchi Kazuhiko, Okada Shuichi, Takata Daisuke, Rokutanda Nana, Horiguchi Jun, Tsushima Yoshito, Oyama Tetsunari, Takeyoshi Izumi, Yamada Masano |
Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study. The Journal of clinical endocrinology and metabolism 2014 Oct 99 (10): E2093-100. Di Dalmazi Guido, Kisker Caroline, Calebiro Davide, Mannelli Massimo, Canu Letizia, Arnaldi Giorgio, Quinkler Marcus, Rayes Nada, Tabarin Antoine, Laure Jullié Marie, Mantero Franco, Rubin Beatrice, Waldmann Jens, Bartsch Detlef K, Pasquali Renato, Lohse Martin, Allolio Bruno, Fassnacht Martin, Beuschlein Felix, Reincke Mart |
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science (New York, N.Y.) 2014 May 344 (6186): 913-7. Cao Yanan, He Minghui, Gao Zhibo, Peng Ying, Li Yanli, Li Lin, Zhou Weiwei, Li Xiangchun, Zhong Xu, Lei Yiming, Su Tingwei, Wang Hang, Jiang Yiran, Yang Lin, Wei Wei, Yang Xu, Jiang Xiuli, Liu Li, He Juan, Ye Junna, Wei Qing, Li Yingrui, Wang Weiqing, Wang Jun, Ning Gua |
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. The New England journal of medicine 2014 Mar 370 (11): 1019-28. Beuschlein Felix, Fassnacht Martin, Assié Guillaume, Calebiro Davide, Stratakis Constantine A, Osswald Andrea, Ronchi Cristina L, Wieland Thomas, Sbiera Silviu, Faucz Fabio R, Schaak Katrin, Schmittfull Anett, Schwarzmayr Thomas, Barreau Olivia, Vezzosi Delphine, Rizk-Rabin Marthe, Zabel Ulrike, Szarek Eva, Salpea Paraskevi, Forlino Antonella, Vetro Annalisa, Zuffardi Orsetta, Kisker Caroline, Diener Susanne, Meitinger Thomas, Lohse Martin J, Reincke Martin, Bertherat Jérome, Strom Tim M, Allolio Bru |
Genomic spectra of biliary tract cancer. Nature genetics 2015 Sep 47 (9): 1003-10. Nakamura Hiromi, Arai Yasuhito, Totoki Yasushi, Shirota Tomoki, Elzawahry Asmaa, Kato Mamoru, Hama Natsuko, Hosoda Fumie, Urushidate Tomoko, Ohashi Shoko, Hiraoka Nobuyoshi, Ojima Hidenori, Shimada Kazuaki, Okusaka Takuji, Kosuge Tomoo, Miyagawa Shinichi, Shibata Tatsuhi |
PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases. European journal of endocrinology / European Federation of Endocrine Societies 2015 Mar . Thiel Anne, Reis Anna-Carinna, Haase Matthias, Goh Gerald, Schott Matthias, Willenberg Holger S, Scholl Ute Ingr |
Unique genomic profile of fibrolamellar hepatocellular carcinoma. Gastroenterology 2015 1 148 (4): 806-18.e10. Cornella Helena, Alsinet Clara, Sayols Sergi, Zhang Zhongyang, Hao Ke, Cabellos Laia, Hoshida Yujin, Villanueva Augusto, Thung Swan, Ward Stephen C, Rodriguez-Carunchio Leonardo, Vila-Casadesús Maria, Imbeaud Sandrine, Lachenmayer Anja, Quaglia Alberto, Nagorney David M, Minguez Beatriz, Carrilho Flair, Roberts Lewis R, Waxman Samuel, Mazzaferro Vincenzo, Schwartz Myron, Esteller Manel, Heaton Nigel D, Zucman-Rossi Jessica, Llovet Josep |
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
Clinical characteristics of PRKACA mutations in Chinese patients with adrenal lesions: a single-centre study. Clinical endocrinology 2016 Jun . Li Xintao, Wang Baojun, Tang Lu, Lang Bin, Zhang Yu, Zhang Fan, Chen Luyao, Ouyang Jinzhi, Zhang |
Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma. The Journal of pathology 2017 Mar . Tseng I-Ching, Huang Wei-Ju, Jhuang Yu-Ling, Chang Ya-Yun, Hsu Hung-Pin, Jeng Yung-Mi |
Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome. The Journal of clinical endocrinology and metabolism 2019 7 104 (11): 5651-5657. Di Dalmazi Guido, Timmers Henri J L M, Arnaldi Giorgio, Küsters Benno, Scarpelli Marina, Bathon Kerstin, Calebiro Davide, Beuschlein Felix, Hermus Ad, Reincke Mart |
BAP1 mutations define a homogeneous subgroup of hepatocellular carcinoma with fibrolamellar-like features and activated PKA. Journal of hepatology 2019 Dec . Hirsch Théo Z, Negulescu Ana, Gupta Barkha, Caruso Stefano, Noblet Bénédicte, Couchy Gabrielle, Bayard Quentin, Meunier Léa, Morcrette Guillaume, Scoazec Jean-Yves, Blanc Jean-Frédéric, Amaddeo Giuliana, Nault Jean-Charles, Bioulac-Sage Paulette, Ziol Marianne, Beaufrère Aurélie, Paradis Valérie, Calderaro Julien, Imbeaud Sandrine, Zucman-Rossi Jessi |
Recurrent Rearrangements in PRKACA and PRKACB in Intraductal Oncocytic Papillary Neoplasms of the Pancreas and Bile Duct. Gastroenterology 2019 11 158 (3): 573-582.e2. Singhi Aatur D, Wood Laura D, Parks Emma, Torbenson Michael S, Felsenstein Matthäus, Hruban Ralph H, Nikiforova Marina N, Wald Abigail I, Kaya Cihan, Nikiforov Yuri E, Favazza Laura, He Jin, McGrath Kevin, Fasanella Kenneth E, Brand Randall E, Lennon Anne Marie, Furlan Alessandro, Dasyam Anil K, Zureikat Amer H, Zeh Herbert J, Lee Kenneth, Bartlett David L, Slivka Ad |
KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma. PloS one 2020 9 15 (9): e0238477. Saglam Ozlen, Tang Zhenya, Tang Guilin, Medeiros L Jeffrey, Toruner Gokce |
Intratumoral heterogeneity of the tumor cells based on in situ cortisol excess in cortisol-producing adenomas; ?An association among morphometry, genotype and cellular senescence?. The Journal of steroid biochemistry and molecular biology 2020 10 204 105764. Gao Xin, Yamazaki Yuto, Tezuka Yuta, Pieroni Jacopo, Ishii Kae, Atsumi Nanako, Ono Yoshikiyo, Omata Kei, Morimoto Ryo, Nakamura Yasuhiro, Satoh Fumitoshi, Sasano Hirono |
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics 2022 8 . Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, , Cormier-Daire Valer |
Cortisol-producing adenoma-related somatic mutations in unilateral primary aldosteronism with concurrent autonomous cortisol secretion: their prevalence and clinical characteristics. European journal of endocrinology 2022 Oct 187 (4): 519-530. Wu Wan-Chen, Peng Kang-Yung, Lu Jin-Ying, Chan Chieh-Kai, Wang Chih-Yuan, Tseng Fen-Yu, Yang Wei-Shiung, Lin Yen-Hung, Lin Po-Chih, Chen Ting-Chu, Huang Kuo-How, Chueh Jeff S, Wu Vin-Ce |
Association of DNA methylation with steroidogenic enzymes in Cushing's adenoma. Endocrine-related cancer 2022 6 29 (8): 495-502. Kodama Takaya, Oki Kenji, Otagaki Yu, Baba Ryuta, Okada Akira, Itcho Kiyotaka, Kobuke Kazuhiro, Nagano Gaku, Ohno Haruya, Hinata Nobuyuki, Arihiro Koji, Gomez-Sanchez Celso E, Yoneda Masayasu, Hattori Nobo |
Examining the role of mitochondrial genetic variation in nicotine dependence. Psychiatry research 2022 3 310 114452. Giannoulis Stavroula V, Chenoweth Meghan J, Saquilayan Paulo, Tyndale Rachel F, Lerman Caryn, Kennedy James L, Zawertailo Laurie, Gonçalves Vanes |
Cardiovascular risk assessments in patients with cortisol-producing adenoma: impact of clinical features and genetic characteristics. Heart and vessels 2023 9 . Daisuke Watanabe, Satoshi Morimoto, Noriko Morishima, Atsuhiro Ichiha |
Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
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- Page last updated:Apr 22, 2024
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