Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: PRKAR1A[original query] |
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Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. European journal of endocrinology / European Federation of Endocrine Societies 2009 Jul 161 (1): 153-61. Bimpaki Eirini I, Nesterova Maria, Stratakis Constantine |
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. The Journal of clinical endocrinology and metabolism 2009 Jun 94 (6): 2085-91. Bertherat Jérôme, Horvath Anélia, Groussin Lionel, Grabar Sophie, Boikos Sosipatros, Cazabat Laure, Libe Rosella, René-Corail Fernande, Stergiopoulos Sotirios, Bourdeau Isabelle, Bei Thalia, Clauser Eric, Calender Alain, Kirschner Lawrence S, Bertagna Xavier, Carney J Aidan, Stratakis Constantine |
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clinical genetics 2010 Nov 78 (5): 457-63. Stratakis C A, Tichomirowa M A, Boikos S, Azevedo M F, Lodish M, Martari M, Verma S, Daly A F, Raygada M, Keil M F, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang K M, Nesterova M, Franklin S, Vanbellinghen J-F, Bours V, Salvatori R, Beckers |
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. The Journal of clinical endocrinology and metabolism 2011 Jan 96 (1): E208-14. Libé Rossella, Horvath Anelia, Vezzosi Delphine, Fratticci Amato, Coste Joel, Perlemoine Karine, Ragazzon Bruno, Guillaud-Bataille Marine, Groussin Lionel, Clauser Eric, Raffin-Sanson Marie-Laure, Siegel Jennifer, Moran Jason, Drori-Herishanu Limor, Faucz Fabio Rueda, Lodish Maya, Nesterova Maria, Bertagna Xavier, Bertherat Jerome, Stratakis Constantine |
Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. The Journal of clinical endocrinology and metabolism 2011 Nov 96 (11): E1888-95. Gaujoux Sébastien, Tissier Frédérique, Ragazzon Bruno, Rebours Vinciane, Saloustros Emmanouil, Perlemoine Karine, Vincent-Dejean Caroline, Meurette Guillaume, Cassagnau Elisabeth, Dousset Bertrand, Bertagna Xavier, Horvath Anelia, Terris Benoit, Carney J Aidan, Stratakis Constantine A, Bertherat Jérô |
Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications. The Journal of clinical endocrinology and metabolism 2014 Feb 99 (2): E303-10. London Edra, Rothenbuhler Anya, Lodish Maya, Gourgari Evgenia, Keil Meg, Lyssikatos Charalampos, de la Luz Sierra Maria, Patronas Nicolas, Nesterova Maria, Stratakis Constantine |
Not all glucocorticoid-induced obesity is the same: differences in adiposity among various diagnostic groups of Cushing syndrome. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2014 Nov 46 (12): 897-903. London E, Lodish M, Keil M, Lyssikatos C, de la Luz Sierra M, Nesterova M, Stratakis C |
SNP Regulation of microRNA Expression and Subsequent Colon Cancer Risk. PloS one 0 10 (12): e0143894. Mullany Lila E, Wolff Roger K, Herrick Jennifer S, Buas Matthew F, Slattery Martha |
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures. Hormones (Athens, Greece) 2016 Jan 15 (1): 129-35. Papanastasiou Labrini, Fountoulakis Stelios, Voulgaris Nikos, Kounadi Theodora, Choreftaki Theodosia, Kostopoulou Akrivi, Zografos George, Lyssikatos Charalampos, Stratakis Constantine A, Piaditis Geor |
Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas. European journal of endocrinology / European Federation of Endocrine Societies 2016 May . Peculis Raitis, Balcere Inga, Rovite Vita, Megnis Kaspars, Valtere Andra, Stukens Janis, Arnicane Ligita, Nikitina-Zake Liene, Lejnieks Aivars, Pirags Valdis, Klovins Jan |
A network of synaptic genes associated with schizophrenia and bipolar disorder. Schizophrenia research 2016 Feb . Forero Diego A, Herteleer Liesbet, De Zutter Sonia, Norrback Karl-Fredrik, Nilsson Lars-Göran, Adolfsson Rolf, Callaerts Patrick, Del-Favero Jurg |
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 |
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. European journal of endocrinology 2017 Feb . De Sousa Sunita Mc, McCabe Mark J, Wu Kathy, Roscioli Tony, Gayevskiy Velimir, Brook Katelyn, Rawlings Lesley, Scott Hamish S, Thompson Tanya J, Earls Peter, Gill Anthony J, Cowley Mark J, Dinger Marcel E, McCormack Ann |
Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers. NPJ breast cancer 2018 4 19. Yap Yoon-Sim, Singh Angad P, Lim John H C, Ahn Jin-Hee, Jung Kyung-Hae, Kim Jeongeun, Dent Rebecca A, Ng Raymond C H, Kim Sung-Bae, Chiang Derek |
Genotyping and mRNA profiling reveal actionable molecular targets in biliary tract cancers. American journal of cancer research 2018 2 8 (1): 2-15. Papadopoulou Kyriaki, Murray Samuel, Manousou Kyriaki, Tikas Ioannis, Dervenis Christos, Sgouros Joseph, Rontogianni Dimitra, Lakis Sotirios, Bobos Mattheos, Poulios Christos, Pervana Stavroula, Lazaridis Georgios, Fountzilas George, Kotoula Vassili |
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. Journal of endocrinological investigation 2018 1 41 (8): 909-917. Fu J, Lai F, Chen Y, Wan X, Wei G, Li Y, Xiao H, Cao |
Identification of new candidate genes and signalling pathways associated with the development of neuroendocrine pancreatic tumours based on next generation sequencing data. Molecular biology reports 2020 5 47 (6): 4233-4243. Kit Oleg I, Trifanov Vladimir S, Petrusenko Nataliya A, Gvaldin Dmitry Y, Kutilin Denis S, Timoshkina Nataliya |
Genomic variation as a marker of response to neoadjuvant therapy in locally advanced rectal cancer. Molecular & cellular oncology 2020 7 (3): 1716618. Douglas Jason K, Callahan Rose E, Hothem Zachary A, Cousineau Craig S, Kawak Samer, Thibodeau Bryan J, Bergeron Shelli, Li Wei, Peeples Claire E, Wasvary Harry |
Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas. Endocrine-related cancer 2020 Apr . Tirosh Amit, Hamimi Ahmed, Faucz Fabio, Aharon-Hananel Genya, Zavras Phaedon D, Bonella Belen, Auerbach Adi, Gillis David, Lyssikatos Charalampos, Belyavskaya Elena, Stratakis Constantine A, Gharib Ahmed |
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant. PloS one 2020 4 15 (4): e0231665. Ikeya Akira, Nakashima Mitsuko, Yamashita Miho, Kakizawa Keisuke, Okawa Yuta, Saitsu Hirotomo, Sasaki Shigekazu, Sasano Hironobu, Suda Takafumi, Oki Yuta |
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape. BMC medical genomics 2020 11 13 (1): 165. Fojo Tito, Huff Lyn, Litman Thomas, Im Kate, Edgerly Maureen, Del Rivero Jaydira, Pittaluga Stefania, Merino Maria, Bates Susan E, Dean Micha |
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. BMC endocrine disorders 2020 1 20 (1): 18. De Sousa Sunita M C, Manavis Jim, Feng Jinghua, Wang Paul, Schreiber Andreas W, Scott Hamish S, Torpy David |
Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021 7 166 (2): 228-235. Dolina Jiri, Kunovsky Lumir, Kroupa Radek, Stary Karel, Jabandziev Petr, Nesporova Tereza, Maca Karel, Andrasina Tomas, Marek Filip, Kala Zdenek, Vaculova Jitka, Said David, Zapletalova Martina, Lochman Jan, Palova Noskova Hana, Slaby Ondrej, Izakovicova Holla Lydie, Borilova Linhartova Pet |
Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma. Frontiers in genetics 2022 9 13 947305. Wan Wei, Zeng Liang, Jiang Hongqun, Xia Yunyan, Xiong Yuanpi |
Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation. The oncologist 2022 May . Huang Richard S P, Tse Julie Y, Harries Lukas, Graf Ryon P, Lin Douglas I, Murugesan Karthikeyan, Hiemenz Matthew C, Parimi Vamsi, Janovitz Tyler, Decker Brennan, Severson Eric, Levy Mia A, Ramkissoon Shakti H, Elvin Julia A, Ross Jeffrey S, Williams Erik |
Multi-omic analysis reveals significantly mutated genes and DDX3X as a sex-specific tumor suppressor in cutaneous melanoma. Nature cancer 2022 2 1 (6): 635-652. Alkallas Rached, Lajoie Mathieu, Moldoveanu Dan, Hoang Karen Vo, Lefrançois Philippe, Lingrand Marine, Ahanfeshar-Adams Mozhdeh, Watters Kevin, Spatz Alan, Zippin Jonathan H, Najafabadi Hamed S, Watson Ian |
Mutational landscape of circulating tumor DNA identifies distinct molecular features associated with therapeutic response in patients with metastatic colorectal cancer. Therapeutic advances in medical oncology 2022 14 17588359211070643. Shi Min, Yuan Hong, Ji Jun, Zhang Shouwei, Li Qingyuan, Chen Yawei, Gong Xiaoli, Zhu Zhenggang, Zhang J |
Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors. Human pathology 2023 12 . Eman Abdulfatah, Khaleel I Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T Idrees, Thomas M Ulbright, Lakshmi Pryia Kunju, Angela |
Genetic variants of the beta-adrenergic receptor pathways as both risk and protective factors for retinopathy of prematurity. American journal of ophthalmology 2024 1 . Hélène Paradis, Salem Werdyani, Guangju Zhai, Robert L Gendron, Reza Tabrizchi, Margaret McGovern, J Michael Jumper, Daniel Brinton, William V Go |
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- Page last updated:Apr 16, 2024
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