Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and EGLN1[original query] |
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| Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility. Endocrine-related cancer 2011 Feb 18 (1): 73-83. Astuti Dewi, Ricketts Christopher J, Chowdhury Rasheduzzaman, McDonough Michael A, Gentle Dean, Kirby Gail, Schlisio Susanne, Kenchappa Rajappa S, Carter Bruce D, Kaelin William G, Ratcliffe Peter J, Schofield Christopher J, Latif Farida, Maher Eamonn |
| EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Proceedings of the National Academy of Sciences of the United States of America 2010 Nov 107 (44): 18961-6. Aggarwal Shilpi, Negi Sapna, Jha Pankaj, Singh Prashant K, Stobdan Tsering, Pasha M A Qadar, Ghosh Saurabh, Agrawal Anurag, , Prasher Bhavana, Mukerji Mita |
| Combined genetic effects of EGLN1 and VWF modulate thrombotic outcome in hypoxia revealed by Ayurgenomics approach. Journal of translational medicine 2015 13 184. Aggarwal Shilpi, Gheware Atish, Agrawal Anurag, Ghosh Saurabh, Prasher Bhavana, Mukerji Mitali, |
| An EGLN1 mutation may regulate hypoxic response in cyanotic congenital heart disease through the PHD2/HIF-1A pathway. Genes & diseases 2019 3 6 (1): 35-42. Zhou Yuanlin, Ouyang Na, Liu Lingjuan, Tian Jie, Huang Xupei, Lu Tiew |
| Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson's Disease. Parkinson's disease 2020 5 2020 9582317. Chiang Han-Lin, Chen Chiung Mei, Chen Yi-Chun, Chao Chih-Ying, Wu Yih-Ru, Lee-Chen Guey-J |
| Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): . Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz |
| Sex differences in genotype frequency and the risk of polycythemia associated with rs13419896 and rs2790859 among Tibetan highlanders living in Tsarang, Mustang, Nepal. Journal of physiological anthropology 2024 10 43 (1): 25. Hiroaki Arima, Takayuki Nishimura, Sweta Koirala, Masayuki Nakano, Hiromu Ito, Tomo Ichikawa, Kishor Pandey, Basu Dev Pandey, Taro Yamamo |
| A Case-Control Study of the Associations between EGLN1 Gene Polymorphisms and COPD. Frontiers in bioscience (Landmark edition) 2024 1 29 (1): 18. Xin Li, Peng Zhang, Jing Yu, Chunyan Zhang, Yanli Shi, Xueyan Wei, Honge Li, Xuhui Zhang, Ao Lin, Zhen Yang, Yunchao Wang, Xinhua Wa |
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