Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 93 Records) |
Query Trace: SQSTM1[original query] |
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Association of autophagy status with amount of Fusobacterium nucleatum in colorectal cancer. The Journal of pathology 2019 12 250 (4): 397-408. Haruki Koichiro, Kosumi Keisuke, Hamada Tsuyoshi, Twombly Tyler S, Väyrynen Juha P, Kim Sun A, Masugi Yohei, Qian Zhi Rong, Mima Kosuke, Baba Yoshifumi, da Silva Annacarolina, Borowsky Jennifer, Arima Kota, Fujiyoshi Kenji, Lau Mai Chan, Li Peilong, Guo Chunguang, Chen Yang, Song Mingyang, Nowak Jonathan A, Nishihara Reiko, Yanaga Katsuhiko, Zhang Xuehong, Wu Kana, Bullman Susan, Garrett Wendy S, Huttenhower Curtis, Meyerhardt Jeffrey A, Giannakis Marios, Chan Andrew T, Fuchs Charles S, Ogino Shu |
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2020 9 97 149.e9-149.e15. Liu Xiaolu, He Ji, Chen Lu, Zhang Nan, Tang Lu, Liu Xiangyi, Ma Yan, Fan Dongshe |
Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone. Calcified tissue international 2020 9 108 (2): 159-164. Donáth Judit, Balla Bernadett, Pálinkás Márton, Rásonyi Rita, Vastag Gyula, Alonso Nerea, Prieto Beatriz Larraz, Vallet Mahéva, Ralston Stuart H, Poór Gyu |
Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. Neurobiology of aging 2020 Feb . Ramos-Campoy Oscar, Antonell Anna, Falgàs Neus, Balasa Mircea, Borrego-Écija Sergi, Rodríguez-Santiago Benjamín, Datta Debayan, Armengol Lluís, Fernández-Villullas Guadalupe, Bosch Beatriz, Olives Jaume, Muñoz-García Cristina, Castellví Magdalena, Tort-Merino Adrià, Sánchez-Valle Raquel, Lladó Albe |
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis. Neurology. Genetics 2020 3 6 (2): e406. Pytte Julia, Anderton Ryan S, Flynn Loren L, Theunissen Frances, Jiang Leanne, Pitout Ianthe, James Ian, Mastaglia Frank L, Saunders Ann M, Bedlack Richard, Siddique Teepu, Siddique Nailah, Akkari P Antho |
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway. Bone 2020 2 133 115265. Usategui-Martín Ricardo, Gestoso-Uzal Nerea, Calero-Paniagua Ismael, De Pereda José María, Del Pino-Montes Javier, González-Sarmiento Rogel |
Autophagy Genes for Wet Age-Related Macular Degeneration in a Finnish Case-Control Study. Genes 2020 Nov 11 (11): . Paterno Jussi J, Koskela Ali, Hyttinen Juha M T, Vattulainen Elina, Synowiec Ewelina, Tuuminen Raimo, Watala Cezary, Blasiak Janusz, Kaarniranta K |
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta neuropathologica communications 2020 Jan 8 (1): 5. Orme Tatiana, Hernandez Dena, Ross Owen A, Kun-Rodrigues Celia, Darwent Lee, Shepherd Claire E, Parkkinen Laura, Ansorge Olaf, Clark Lorraine, Honig Lawrence S, Marder Karen, Lemstra Afina, Rogaeva Ekaterina, St George-Hyslop Peter, Londos Elisabet, Zetterberg Henrik, Morgan Kevin, Troakes Claire, Al-Sarraj Safa, Lashley Tammaryn, Holton Janice, Compta Yaroslau, Van Deerlin Vivianna, Trojanowski John Q, Serrano Geidy E, Beach Thomas G, Lesage Suzanne, Galasko Douglas, Masliah Eliezer, Santana Isabel, Pastor Pau, Tienari Pentti J, Myllykangas Liisa, Oinas Minna, Revesz Tamas, Lees Andrew, Boeve Brad F, Petersen Ronald C, Ferman Tanis J, Escott-Price Valentina, Graff-Radford Neill, Cairns Nigel J, Morris John C, Pickering-Brown Stuart, Mann David, Halliday Glenda, Stone David J, Dickson Dennis W, Hardy John, Singleton Andrew, Guerreiro Rita, Bras Jo |
The role of genetics in neurodegenerative dementia: a large cohort study in South China. NPJ genomic medicine 2021 8 6 (1): 69. Jiao Bin, Liu Hui, Guo Lina, Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Zhou Lu, Wang Xin, Jiang Yaling, Yang Qijie, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Yan Xinxiang, Li Jinchen, Tang Beisha, Shen |
Correlation analysis of tumor mutation burden of hepatocellular carcinoma based on data mining. Journal of gastrointestinal oncology 2021 7 12 (3): 1117-1131. Zhou Weijie, Fang Dalang, He Yongfei, Wei J |
NTRK Fusion Genes in Thyroid Carcinomas: Clinicopathological Characteristics and Their Impacts on Prognosis. Cancers 2021 4 13 (8): . Pekova Barbora, Sykorova Vlasta, Mastnikova Karolina, Vaclavikova Eliska, Moravcova Jitka, Vlcek Petr, Lastuvka Petr, Taudy Milos, Katra Rami, Bavor Petr, Kodetova Daniela, Chovanec Martin, Drozenova Jana, Astl Jaromir, Hrabal Petr, Vcelak Josef, Bendlova Be |
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of neurology 2021 Mar . Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
Whole-Exome Sequencing and C9orf72 Analysis in Primary Progressive Aphasia. Journal of Alzheimer's disease : JAD 2021 2 80 (3): 985-990. Pytel Vanesa, Hernández-Lorenzo Laura, Torre-Fuentes Laura, Sanz Raúl, González Nieves, Cabrera-Martín María Nieves, Delgado-Álvarez Alfonso, Gómez-Pinedo Ulises, Matías-Guiu Jorge, Matias-Guiu Jordi |
Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Frontiers in aging neuroscience 2021 11 13 745407. Sun Lin, Zhang Jianye, Su Ning, Zhang Shaowei, Yan Feng, Lin Xiang, Yu Jie, Li Wei, Li Xia, Xiao Shi |
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone. Frontiers in endocrinology 2022 3 13 850462. Tao Xiaohui, Liu Li, Yang Xingguang, Wei Zhe, Chen Zhongzhong, Zhang Ge, Zhang Zhenlin, Yue H |
Genetic and Molecular Evaluation of SQSTM1/p62 on the Neuropathologies of Alzheimer's Disease. Frontiers in aging neuroscience 2022 3 14 829232. Dong Wei, Cui Meng-Chao, Hu Wen-Zheng, Zeng Qi, Wang Yi-Long, Zhang Wei, Huang Y |
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
Predicting the prognosis of hepatocellular carcinoma based on the interaction between pyroptosis, apoptosis, and necroptosis. Clinical and experimental medicine 2022 Oct . Qian Fang, Kong Wei, Wang Shuaiqun, Wei K |
A novel signature of combing cuproptosis- with ferroptosis-related genes for prediction of prognosis, immunologic therapy responses and drug sensitivity in hepatocellular carcinoma. Frontiers in oncology 2022 12 1000993. Zhao Chuanbing, Zhang Zhengle, Jing T |
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687. Calcified tissue international 2023 9 . Yentl Huybrechts, Raphaël De Ridder, Ellen Steenackers, Jean-Pierre Devogelaer, Geert Mortier, Gretl Hendrickx, Wim Van H |
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurology. Genetics 2023 6 9 (4): e200077. Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, Gerrit Botha, Nicola J Mulder, Gang Wu, Evadnie Rampersaud, Jason Myers, Marka Van Blitterswijk, Rosa Rademakers, J Paul Taylor, Joanne Wuu, Michael Benatar, Melissa N |
Genetic analysis of dystonia-related genes in Parkinson's disease. Frontiers in aging neuroscience 2023 6 15 1207114. Yige Wang, Yuwen Zhao, Hongxu Pan, Qian Zeng, Xiaoxia Zhou, Yaqin Xiang, Zhou Zhou, Qian Xu, Qiying Sun, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jifeng Guo, Beisha Tang, Qiao Yu, Zhenhua L |
Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
Spitz Tumor With SQSTM1::NTRK2 Fusion: A Clinicopathological Study of 5 Cases. The American Journal of dermatopathology 2023 3 . Mansour Boulos, Vanecek Tomas, Kastnerova Liubov, Nosek Daniel, Kazakov Dmitry V, Donati Miche |
Pharmacogenetic Association between Allelic Variants of the Autophagy-Related Genes and Anti-Vascular Endothelial Growth Factor Treatment Response in Neovascular Age-Related Macular Degeneration. Biomedicines 2023 11 11 (11): . Oyuna S Kozhevnikova, Anzhella Zh Fursova, Anna S Derbeneva, Ida F Nikulich, Vasiliy A Devyatkin, Nataliya G Koloso |
RNF213 variant and autophagic impairment: A pivotal link to endothelial dysfunction in moyamoya disease. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2024 4 271678X241245557. Hee Sun Shin, Geun Hwa Park, Eun Sil Choi, So Young Park, Da Sol Kim, Jaerak Chang, Ji Man Ho |
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- Page last updated:Apr 22, 2024
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