Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: EIF2AK3[original query] |
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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Nature genetics 2011 Jul 43 (7): 699-705. Höglinger Günter U, Melhem Nadine M, Dickson Dennis W, Sleiman Patrick M A, Wang Li-San, Klei Lambertus, Rademakers Rosa, de Silva Rohan, Litvan Irene, Riley David E, van Swieten John C, Heutink Peter, Wszolek Zbigniew K, Uitti Ryan J, Vandrovcova Jana, Hurtig Howard I, Gross Rachel G, Maetzler Walter, Goldwurm Stefano, Tolosa Eduardo, Borroni Barbara, Pastor Pau, , Cantwell Laura B, Han Mi Ryung, Dillman Allissa, van der Brug Marcel P, Gibbs J Raphael, Cookson Mark R, Hernandez Dena G, Singleton Andrew B, Farrer Matthew J, Yu Chang-En, Golbe Lawrence I, Revesz Tamas, Hardy John, Lees Andrew J, Devlin Bernie, Hakonarson Hakon, Müller Ulrich, Schellenberg Gerard |
A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2012 Feb 27 (2): 331-41. Liu Jie, Hoppman Nicole, O'Connell Jeffrey R, Wang Hong, Streeten Elizabeth A, McLenithan John C, Mitchell Braxton D, Shuldiner Alan |
An exploratory study on STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease. Neurobiology of aging 2013 May 34 (5): 1519.e13-7. Liu Qiu-Yan, Yu Jin-Tai, Miao Dan, Ma Xiao-Ying, Wang Hui-Fu, Wang Wei, Tan L |
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease. Acta neuropathologica communications 2013 1 (1): 1. Stutzbach LD, Xie SX, Naj AC, Albin R, Gilman S, Lee VM, Trojanowski JQ, Devlin B, Schellenberg GD |
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Molecular genetics and metabolism 2014 Dec 113 (4): 315-20. Alkorta-Aranburu G, Carmody D, Cheng Y W, Nelakuditi V, Ma L, Dickens Jazzmyne T, Das S, Greeley S A W, del Gaudio |
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. European journal of endocrinology / European Federation of Endocrine Societies 2015 Jun 172 (6): 697-705. Demirbilek Huseyin, Arya Ved Bhushan, Ozbek Mehmet Nuri, Houghton Jayne A L, Baran Riza Taner, Akar Melek, Tekes Selahattin, Tuzun Heybet, Mackay Deborah J, Flanagan Sarah E, Hattersley Andrew T, Ellard Sian, Hussain Khal |
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China. Journal of diabetes research 2016 2016 6314368. Cao Bingyan, Gong Chunxiu, Wu Di, Lu Chaoxia, Liu Fang, Liu Xiaojing, Zhang Yingxian, Gu Yi, Qi Zhan, Li Xiaoqiao, Liu Min, Li Wenjing, Su Chang, Liang Xuejun, Feng M |
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. Molecular neurodegeneration 2018 Jul 13 (1): 37. Sanchez-Contreras Monica Y, Kouri Naomi, Cook Casey N, Serie Daniel J, Heckman Michael G, Finch NiCole A, Caselli Richard J, Uitti Ryan J, Wszolek Zbigniew K, Graff-Radford Neill, Petrucelli Leonard, Wang Li-San, Schellenberg Gerard D, Dickson Dennis W, Rademakers Rosa, Ross Owen |
EIF2AK3 variants in Dutch patients with Alzheimer's disease. Neurobiology of aging 2018 Aug . Wong Tsz Hang, van der Lee Sven J, van Rooij Jeroen G J, Meeter Lieke H H, Frick Petra, Melhem Shamiram, Seelaar Harro, Ikram M Arfan, Rozemuller Annemieke J, Holstege Henne, Hulsman Marc, Uitterlinden Andre, Neumann Manuela, Hoozemans Jeroen J M, van Duijn Cornelia M, Rademakers Rosa, van Swieten John |
Importance of prostate androgen-regulated mucin-like protein 1 in development of the bovine blastocyst. BMC developmental biology 2019 7 19 (1): 15. Zolini Adriana M, Negrón-Pérez Verónica M, Hansen Peter |
Condemned or Not to Die? Gene Polymorphisms Associated With Cell Death in Pemphigus Foliaceus. Frontiers in immunology 2019 10 2416. Bumiller-Bini Valéria, Cipolla Gabriel Adelman, Spadoni Mariana Basso, Augusto Danillo Gardenal, Petzl-Erler Maria Luiza, Beltrame Marcia Holsbach, Boldt Angelica Beate Wint |
Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes. Molecular medicine reports 2019 Oct . Glotov Oleg S, Serebryakova Elena A, Turkunova Mariia E, Efimova Olga A, Glotov Andrey S, Barbitoff Yury A, Nasykhova Yulia A, Predeus Alexander V, Polev Dmitrii E, Fedyakov Mikhail A, Polyakova Irina V, Ivashchenko Tatyana E, Shved Natalia Y, Shabanova Elena S, Tiselko Alena V, Romanova Olga V, Sarana Andrey M, Pendina Anna A, Scherbak Sergey G, Musina Ekaterina V, Petrovskaia-Kaminskaia Anastasiia V, Lonishin Liubov R, Ditkovskaya Liliya V, Zhelenina Liudmila ?, Tyrtova Ludmila V, Berseneva Olga S, Skitchenko Rostislav K, Suspitsin Evgenii N, Bashnina Elena B, Baranov Vladislav |
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey. Journal of clinical research in pediatric endocrinology 2020 8 13 (1): 80-87. Denkboy Öngen Yasemin, Eren Erdal, Demirba? Özgecan, Sobu Elif, Ellard Sian, De Franco Elisa, Tar?m Öm |
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta diabetologica 2021 8 58 (12): 1689-1700. Laimon Wafaa, El-Ziny Magdy, El-Hawary Amany, Elsharkawy Ashraf, Salem Nanees Abdel-Badie, Aboelenin Hadil Mohamed, Awad Mohammad Hosny, Flanagan Sarah E, De Franco Eli |
Gene-Environment Interactions in Progressive Supranuclear Palsy. Frontiers in neurology 2021 12 664796. Litvan Irene, Proudfoot James A, Martin Eden R, Standaert David, Riley David, Hall Deborah, Marras Connie, Bayram Ece, Dubinsky Richard M, Bordelon Yvette, Reich Stephen, Shprecher David, Kluger Benzi, Cunningham Christopher, Schellenberg Gerard D, Jankovic Jose |
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience. Hormone research in paediatrics 2021 1 93 (7-8): 423-432. Abali Zehra Yavas, De Franco Elisa, Karakilic Ozturan Esin, Poyrazoglu Sukran, Bundak Ruveyde, Bas Firdevs, Flanagan Sarah E, Darendeliler Fey |
ER Stress-Related Genes EIF2AK3, HSPA5, and DDIT3 Polymorphisms are Associated With Risk of Lung Cancer. Frontiers in genetics 2022 13 938787. Liu Yongshi, Liang Xiaohua, Zhang Hongpei, Dong Jiajia, Zhang Yan, Wang Juan, Li Chunmei, Xin Xiangbing, Li Y |
Genetics of progressive supranuclear palsy in a Chinese population. Neurobiology of disease 2022 Jul 172 105819. Xiao Xuewen, Yang Qijie, Wen Yafei, Jiao Bin, Liao Xinxin, Zhou Yafang, Weng Ling, Liu Hui, Xu Tianyan, Zhu Yuan, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Bi Xiangyun, Liu Yingzi, Zhang Sizhe, Zhang Weiwei, Li Jinchen, Tang Beisha, Shen |
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt. Annals of pediatric endocrinology & metabolism 2022 2 27 (3): 214-222. Abdelmeguid Yasmine, Mowafy Ehsan Wafa, Marzouk Iman, Franco Elisa De, ElSayed Shaym |
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality. Diabetic medicine : a journal of the British Diabetic Association 2022 11 e15013. Globa Evgenia, Zelinska Nataliya, Johnson Matthew B, Flanagan Sarah E, De Franco Eli |
Classification related to immunogenic cell death predicts prognosis, immune microenvironment characteristics, and response to immunotherapy in lower-grade gliomas. Frontiers in immunology 2023 5 14 1102094. Yirui Kuang, Bincan Jiang, Hecheng Zhu, Yi Zhou, Haoxuan Huang, Can Li, Wenlong Zhang, Xuewen Li, Yudong C |
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