Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 109 Records) |
| Query Trace: Disease and HTRA1[original query] |
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| Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration. Investigative ophthalmology & visual science 2020 12 61 (14): 32. Seddon Johanna M, Widjajahakim Rafael, Rosner Berna |
| Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease. Acta ophthalmologica 2020 Dec . Ula?czyk Zofia, Grabowicz Aleksandra, Mozolewska-Piotrowska Katarzyna, Safranow Krzysztof, Kawa Mi?osz Piotr, Pa?ucha Andrzej, Krawczyk Mariusz, Sikora Piotr, Matczy?ska Ewa, Machali?ski Bogus?aw, Machali?ska An |
| Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci. Human genomics 2021 9 15 (1): 60. Pappas Chris M, Zouache Moussa A, Matthews Stacie, Faust Caitlin D, Hageman Jill L, Williams Brandi L, Richards Burt T, Hageman Gregory |
| The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population. CNS neuroscience & therapeutics 2021 Sep . Xiao Xuewen, Guo Lina, Liao Xinxin, Zhou Yafang, Zhang Weiwei, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Xu Tianyan, Zhu Yuan, Yang Qijie, Hao Xiaoli, Liu Yingzi, Wang Junling, Li Jinchen, Jiao Bin, Shen |
| Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Molecular genetics & genomic medicine 2021 9 9 (10): e1799. Muthusamy Karthik, Ferrer Alejandro, Klee Eric W, Wierenga Klaas J, Gavrilova Ralitza |
| 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 |
| Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic. Brain : a journal of neurology 2021 Jul . Coste Thibault, Hervé Dominique, Neau Jean Philippe, Jouvent Eric, Ba Fatoumata, Bergametti Françoise, Lamy Matthias, Cogez Julien, Derache Nathalie, Schneckenburger Romain, Grelet Maude, Gollion Cédric, Lanotte Livia, Lauer Valérie, Layet Valérie, Urbanczyk Cédric, Didic Mira, Raynouard Igor, Delaval Laure, Dassa Jérémie, Florea Alexandru, Badiu Carmen, Nguyen Karine, Tournier-Lasserve Elisabe |
| Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review. Neurogenetics 2021 5 22 (3): 187-194. Zhang Haohan, Qin Xiaoming, Shi Yingying, Gao Xinya, Wang Fengyu, Wang Huayuan, Shang Junkui, Zhao Jingyi, Zhang Jiewen, Shao Fengm |
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
The Lancet. Neurology 2021 (5): 351-361. Traylor Matthew, Persyn Elodie, Tomppo Liisa, Klasson Sofia, Abedi Vida, Bakker Mark K, Torres Nuria, Li Linxin, Bell Steven, Rutten-Jacobs Loes, Tozer Daniel J, Griessenauer Christoph J, Zhang Yanfei, Pedersen Annie, Sharma Pankaj, Jimenez-Conde Jordi, Rundek Tatjana, Grewal Raji P, Lindgren Arne, Meschia James F, Salomaa Veikko, Havulinna Aki, Kourkoulis Christina, Crawford Katherine, Marini Sandro, Mitchell Braxton D, Kittner Steven J, Rosand Jonathan, Dichgans Martin, Jern Christina, Strbian Daniel, Fernandez-Cadenas Israel, Zand Ramin, Ruigrok Ynte, Rost Natalia, Lemmens Robin, Rothwell Peter M, Anderson Christopher D, Wardlaw Joanna, Lewis Cathryn M, Markus Hugh S, , , , |
| High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy. Frontiers in neurology 2021 12 631407. Chen Zhiyong, Tan Yi Jayne, Lian Michelle M, Tandiono Moses, Foo Jia Nee, Lim Weng Khong, Kandiah Nagaendran, Tan Eng-King, Ng Adeline S |
| Association of HTRA1 and CFH gene polymorphisms with age-related macular degeneration in Ningbo, China. International ophthalmology 2021 Jan . Gong Yan, Zhan Yu, Yuan Tao, Liao Yanhong, Zhang Lingyi, Liu Xiaotian, Zheng Yuanhao, Bao Yong |
| Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Brain : a journal of neurology 2021 10 144 (9): 2670-2682. Malik Rainer, Beaufort Nathalie, Frerich Simon, Gesierich Benno, Georgakis Marios K, Rannikmäe Kristiina, Ferguson Amy C, Haffner Christof, Traylor Matthew, Ehrmann Michael, Sudlow Cathie L M, Dichgans Mart |
| Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants. Neurology. Genetics 2022 8 8 (5): e200015. Ferguson Amy Christina, Thrippleton Sophie, Henshall David, Whittaker Ed, Conway Bryan, MacLeod Malcolm, Malik Rainer, Rawlik Konrad, Tenesa Albert, Sudlow Cathie, Rannikmae Kristii |
| Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease. Frontiers in genetics 2022 8 13 909131. Chen Mei-Jiao, Zhang Yi, Luo Wen-Jiao, Dong Hai-Lin, Wei Qiao, Zhang Juan, Ruan Qi-Qi, Ni Wang, Li Hong- |
| Common and rare genetic risk variants in age-related macular degeneration and genetic risk score in the Coimbra eye study. Acta ophthalmologica 2022 Aug . Farinha Cláudia, Barreto Patricia, Coimbra Rita, Cachulo Maria Luz, Melo Joana Barbosa, Cunha-Vaz José, Lechanteur Yara, Hoyng Carel B, Silva Rufi |
| Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients. PloS one 2022 6 17 (6): e0268795. Rim Priscila H H, de Vasconcellos José Paulo C, de Melo Mônica B, Medina Flavio M C, Sacconi Daniela P D, Lana Tamires P, Hirata Fabio E, Magna Luis A, Marques-de-Faria Antonia |
| Genetic Study of Cerebral Small Vessel Disease in Chinese Han Population. Frontiers in neurology 2022 4 13 829438. Wang Yunchao, Shi Changhe, Li Yusheng, Yu Wenkai, Wei Sen, Fan Yu, Mao Chengyuan, Yang Zhihua, Yu Lulu, Zhao Zichen, Li Shanshan, Gao Yuan, Xu Yumi |
| Genetic analysis reveals novel variants for vascular cognitive impairment. Acta neurologica Scandinavica 2022 3 146 (1): 42-50. Mönkäre Saana, Kuuluvainen Liina, Schleutker Johanna, Bras Jose, Roine Susanna, Pöyhönen Minna, Guerreiro Rita, Myllykangas Lii |
| Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32. Ophthalmology 2022 Dec . Agrón Elvira, Domalpally Amitha, Cukras Catherine A, Clemons Traci E, Chen Qingyu, Swaroop Anand, Lu Zhiyong, Chew Emily Y, Keenan Tiarnan D L, |
| The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain : a journal of neurology 2022 11 . Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia |
| High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease. Journal of neurology, neurosurgery, and psychiatry 2022 10 94 (1): 74-81. Uemura Masahiro, Hatano Yuya, Nozaki Hiroaki, Ando Shoichiro, Kondo Hajime, Hanazono Akira, Iwanaga Akira, Murota Hiroyuki, Osakada Yosuke, Osaki Masato, Kanazawa Masato, Kanai Mitsuyasu, Shibata Yoko, Saika Reiko, Miyatake Tadashi, Aizawa Hitoshi, Ikeuchi Takeshi, Tomimoto Hidekazu, Mizuta Ikuko, Mizuno Toshiki, Ishihara Tomohiko, Onodera Osa |
| Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 10 44 (2): 639-647. He Zheng, Wang Lijun, Zhang Yichi, Yin Chunmao, Niu Yanlia |
| Critical Dependence on Area in Relationship between ARMS2/HTRA1 Genotype and Faster Geographic Atrophy Enlargement: AREDS2 Report 33. Ophthalmology 2023 9 . Elvira Agrón, Amitha Domalpally, Catherine A Cukras, Emily Y Chew, Tiarnan D L Keenan, |
| Rare neurovascular genetic and imaging markers across neurodegenerative diseases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 6 . Allison A Dilliott, Stephanie A Berberian, Kelly M Sunderland, Malcolm A Binns, Julia Zimmer, Miracle Ozzoude, Christopher J M Scott, Fuqiang Gao, Anthony E Lang, David P Breen, Maria C Tartaglia, Brian Tan, Richard H Swartz, Ekaterina Rogaeva, Michael Borrie, Elizabeth Finger, Corinne E Fischer, Andrew Frank, Morris Freedman, Sanjeev Kumar, Stephen Pasternak, Bruce G Pollock, Tarek K Rajji, David F Tang-Wai, Agessandro Abrahao, John Turnbull, Lorne Zinman, Leanne Casaubon, Dar Dowlatshahi, Ayman Hassan, Jennifer Mandzia, Demetrios Sahlas, Gustavo Saposnik, David Grimes, Connie Marras, Thomas Steeves, Mario Masellis, Sali M K Farhan, Robert Bartha, Sean Symons, Robert A Hegele, Sandra E Black, Joel Ramirez, |
| CRISPR editing demonstrates rs10490924 raised oxidative stress in iPSC-derived retinal cells from patients with ARMS2/HTRA1-related AMD. Proceedings of the National Academy of Sciences of the United States of America 2023 5 120 (19): e2215005120. Ya-Ju Chang, Laura A Jenny, Yong-Shi Li, Xuan Cui, Yang Kong, Yao Li, Janet R Sparrow, Stephen H Tsa |
| NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. Stroke 2023 3 . Liao Yi-Chu, Wei Cheng-Yu, Chang Fu-Pang, Chou Ying-Tsen, Hsu Shao-Lun, Chung Chih-Ping, Mizuguchi Takeshi, Matsumoto Naomichi, Yet Shaw-Fang, Lee Yi-Chu |
| Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese.
Frontiers in genetics 2023 3 14 1064659. Shih Chien-Hung, Chuang Hao-Kai, Hsiao Tzu-Hung, Yang Yi-Ping, Gao Chong-En, Chiou Shih-Hwa, Hsu Chih-Chien, Hwang De-Kua |
| Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease. Research square 2023 11 . Martin Dichgans, Rainer Malik, Nathalie Beaufort, Koki Tanaka, Marios Georgakis, Yunye He, Masaru Koido, Chikashi Terao, Christopher Anderson, Yoichiro Kamata |
| Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease. Nature cardiovascular research 2024 8 3 (6): 701-713. Rainer Malik, Nathalie Beaufort, Jiang Li, Koki Tanaka, Marios K Georgakis, Yunye He, Masaru Koido, Chikashi Terao, BioBank Japan, Christopher D Anderson, Yoichiro Kamatani, Ramin Zand, Martin Dichga |
| Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement. medRxiv : the preprint server for health sciences 2024 10 . Samaneh Farashi, Carla J Abbott, Brendan Re Ansell, Zhichao Wu, Lebriz Altay, Ella Arnon, Louis Arnould, Yelena Bagdasarova, Konstantinos Balaskas, Fred K Chen, Emily Chew, Itay Chowers, Steven Clarke, Catherine Cukras, Cécile Delcourt, Marie-Noëlle Delyfer, Anneke I den Hollander, Sascha Fauser, Robert P Finger, Pierre-Henry Gabrielle, Jiru Han, Lauren Ab Hodgson, Ruth Hogg, Frank G Holz, Carel Hoyng, Himeesh Kumar, Eleonora M Lad, Aaron Lee, Ulrich Fo Luhmann, Matthias M Mauschitz, Amy J McKnight, Samuel McLenachan, Aniket Mishra, Ismail Moghul, Luz D Orozco, Danuta M Sampson, Liam W Scott, Vasilena Sitnilska, Scott Song, Amy Stockwell, Anand Swaroop, Jan H Terheyden, Liran Tiosano, Adnan Tufail, Brian L Yaspan, , , Alice Pébay, Erica L Fletcher, Robyn H Guymer, Melanie Bah |
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