Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: EPOR[original query] |
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Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count. American journal of hematology 2004 Sep 77 (1): 12-21. Zeng She Min, Murray Jeffrey C, Widness John A, Strauss Ronald G, Yankowitz Jero |
Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood 2008 Mar 111 (5): 2785-9. Pardanani Animesh, Fridley Brooke L, Lasho Terra L, Gilliland D Gary, Tefferi Ayal |
FLT3 internal tandem duplication associates with adverse outcome and gene- and microRNA-expression signatures in patients 60 years of age or older with primary cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. Blood 2010 Nov 116 (18): 3622-6. Whitman Susan P, Maharry Kati, Radmacher Michael D, Becker Heiko, Mrózek Krzysztof, Margeson Dean, Holland Kelsi B, Wu Yue-Zhong, Schwind Sebastian, Metzeler Klaus H, Wen Jing, Baer Maria R, Powell Bayard L, Carter Thomas H, Kolitz Jonathan E, Wetzler Meir, Moore Joseph O, Stone Richard M, Carroll Andrew J, Larson Richard A, Caligiuri Michael A, Marcucci Guido, Bloomfield Clara |
Common variants of the genes encoding erythropoietin and its receptor modulate cognitive performance in schizophrenia. Molecular medicine (Cambridge, Mass.) 2012 18 1029-40. Kästner Anne, Grube Sabrina, El-Kordi Ahmed, Stepniak Beata, Friedrichs Heidi, Sargin Derya, Schwitulla Judith, Begemann Martin, Giegling Ina, Miskowiak Kamilla W, Sperling Swetlana, Hannke Kathrin, Ramin Anna, Heinrich Ralf, Gefeller Olaf, Nave Klaus-Armin, Rujescu Dan, Ehrenreich Hannelo |
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2 positive polycythemia vera: a case report. BMC cancer 2018 3 18 (1): 286. Pang Ying, Gupta Garima, Yang Chunzhang, Wang Herui, Huynh Thanh-Truc, Abdullaev Ziedulla, Pack Svetlana D, Percy Melanie J, Lappin Terence R J, Zhuang Zhengping, Pacak Kar |
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. International journal of laboratory hematology 2018 12 41 (2): 162-167. Vo?anec Danijela, Prijatelj Tinkara, Debeljak Nataša, Kunej Tan |
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Communications biology 2018 1 49. Oskarsson Gudjon R, Kristjansson Ragnar P, Lee Amy L, Sveinbjornsson Gardar, Magnusson Magnus K, Ivarsdottir Erna V, Benonisdottir Stefania, Oddsson Asmundur, Davidsson Olafur B, Saemundsdottir Jona, Halldorsson Gisli H, Arthur Joseph, Arnadottir Gudny A, Masson Gisli, Jensson Brynjar O, Holm Hilma, Olafsson Isleifur, Onundarson Pall T, Gudbjartsson Daniel F, Norddahl Gudmundur L, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Ka |
Genetic basis of unexplained erythrocytosis in Indian patients. European journal of haematology 2019 May . Mallik Nabhajit, Sharma Prashant, Kaur Hira Jasbir, Chhabra Sanjeev, Sreedharanunni Sreejesh, Kumar Narender, Naseem Shano, Sachdeva Man Updesh Singh, Ahluwalia Jasmina, Malhotra Pankaj, Varma Neelam, Varma Subhash, Das Ree |
Juvenile erythrocytosis in children after liver transplantation: prevalence, risk factors and outcome. Scientific reports 2020 6 10 (1): 9683. Casale Maddalena, Roberti Domenico, Mandato Claudia, Iorio Raffaele, Caropreso Maria, Scianguetta Saverio, Picariello Stefania, Perrotta Silverio, Vajro Piet |
Ras pathway mutation feature in the same individuals at diagnosis and relapse of childhood acute lymphoblastic leukemia. Translational pediatrics 2020 Feb 9 (1): 4-12. Zhang Hong-Hong, Wang Hong-Sheng, Qian Xiao-Wen, Zhu Xiao-Hua, Miao Hui, Yu Yi, Meng Jian-Hua, Le Jun, Jiang Jun-Ye, Cao Ping, Jiang Wen-Jing, Wang Ping, Fu Yang, Li Jun, Qian Mao-Xiang, Zhai Xiao-W |
Philadelphia chromosome-negative B-cell acute lymphoblastic leukaemia with kinase fusions in Taiwan. Scientific reports 2021 3 11 (1): 5802. Hsu Yin-Chen, Yu Chih-Hsiang, Chen Yan-Ming, Roberts Kathryn G, Ni Yu-Ling, Lin Kai-Hsin, Jou Shiann-Tarng, Lu Meng-Yao, Chen Shu-Huey, Wu Kang-Hsi, Chang Hsiu-Hao, Lin Dong-Tsamn, Lin Shu-Wha, Lin Ze-Shiang, Chiu Wei-Tzu, Chang Chia-Ching, Ho Bing-Ching, Mullighan Charles G, Yu Sung-Liang, Yang Yung- |
Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia. Blood cancer discovery 2022 7 3 (5): 410-427. Takeda June, Yoshida Kenichi, Nakagawa Masahiro M, Nannya Yasuhito, Yoda Akinori, Saiki Ryunosuke, Ochi Yotaro, Zhao Lanying, Okuda Rurika, Qi Xingxing, Mori Takuto, Kon Ayana, Chiba Kenichi, Tanaka Hiroko, Shiraishi Yuichi, Kuo Ming-Chung, Kerr Cassandra M, Nagata Yasunobu, Morishita Daisuke, Hiramoto Nobuhiro, Hangaishi Akira, Nakazawa Hideyuki, Ishiyama Ken, Miyano Satoru, Chiba Shigeru, Miyazaki Yasushi, Kitano Toshiyuki, Usuki Kensuke, Sezaki Nobuo, Tsurumi Hisashi, Miyawaki Shuichi, Maciejewski Jaroslaw P, Ishikawa Takayuki, Ohyashiki Kazuma, Ganser Arnold, Heuser Michael, Thol Felicitas, Shih Lee-Yung, Takaori-Kondo Akifumi, Makishima Hideki, Ogawa Seis |
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis. European journal of medical genetics 2022 4 65 (6): 104493. Echambadi Loganathan Samundeshwari, Kattaru Surekha, Chandrasekhar Chodimella, Vengamma B, Sarma Potukuchi Venkata Gurunadha Krish |
An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2 myeloproliferative neoplasms. British journal of haematology 2022 3 198 (1): 131-136. Rabadan Moraes Graciela, Pasquier Florence, Marzac Christophe, Deconinck Eric, Damanti Carlotta Caterina, Leroy Gwendoline, El-Khoury Mira, El Nemer Wassim, Kiladjian Jean-Jacques, Raslova Hana, Najman Albert, Vainchenker William, Marty Caroline, Bellanné-Chantelot Christine, Plo Isabel |
RNA N6-methyladenosine reader IGF2BP3 promotes acute myeloid leukemia progression by controlling stabilization of EPOR mRNA. PeerJ 2023 9 11 e15706. Jin Fan, Mengqi Zhuang, Wei Fan, Ming H |
Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis. Omics : a journal of integrative biology 2023 7 . Harshit Khurana, Babylakshmi Muthusamy, Uday Yanamandra, Kishore Garapati, Harikrishnan Premdeep, Shankar Subramanian, Akhilesh Pand |
Whole-exome sequencing analysis of patent ductus arteriosus in a Japanese macaque (Macaca fuscata). Journal of medical primatology 2023 11 . Young-Jin Jang, Byung-Yong Park, Hyun-Jin Tae, Jeoungha Sim, Dongchoon A |
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