Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Syndrome and 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 |
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 |
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 |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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