CLU c.789T>G ;(p.H263Q)

Variant ID: 8-27462481-A-C

NM_001831.3(CLU):c.789T>G;(p.H263Q)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Association study of selenium-related gene polymorphisms with geriatric depression in China.

Medicine
Liu, Yu Y; Wang, Liqun L; Wang, Zhizhong Z; He, Shulan S
Publication Date: 2023-04-25

Variant appearance in text: rs7982
PubMed Link: 37115082
Variant Present in the following documents:
  • Main text
  • medi-102-e33594.pdf
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Examining SNP-SNP interactions and risk of clinical outcomes in colorectal cancer using multifactor dimensionality reduction based methods.

Frontiers In Genetics
Curtis, Aaron A; Yu, Yajun Y; Carey, Megan M; Parfrey, Patrick P; Yilmaz, Yildiz E YE; Savas, Sevtap S
Publication Date: 2022

Variant appearance in text: rs7982
PubMed Link: 35991579
Variant Present in the following documents:
  • Main text
  • fgene-13-902217.pdf
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Allele-specific analysis reveals exon- and cell-type-specific regulatory effects of Alzheimer's disease-associated genetic variants.

Translational Psychiatry
He, Liang L; Loika, Yury Y; Kulminski, Alexander M AM
Publication Date: 2022-04-18

Variant appearance in text: rs7982
PubMed Link: 35436980
Variant Present in the following documents:
  • Main text
  • 41398_2022_Article_1913.pdf
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Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease.

Translational Psychiatry
He, Liang L; Loika, Yury Y; Park, Yongjin Y; , ; Bennett, David A DA; Kellis, Manolis M; Kulminski, Alexander M AM; ,
Publication Date: 2021-02-26

Variant appearance in text: rs7982
PubMed Link: 33637690
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1263.pdf
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Screening for functional transcriptional and splicing regulatory variants with GenIE.

Nucleic Acids Research
Cooper, Sarah E SE; Schwartzentruber, Jeremy J; Bello, Erica E; Coomber, Eve L EL; Bassett, Andrew R AR
Publication Date: 2020-12-16

Variant appearance in text: rs7982
PubMed Link: 33152068
Variant Present in the following documents:
  • gkaa960.pdf
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Alternative Splicing Regulation of an Alzheimer's Risk Variant in CLU.

International Journal Of Molecular Sciences
Han, Seonggyun S; Nho, Kwangsik K; Lee, Younghee Y
Publication Date: 2020-09-25

Variant appearance in text: rs7982
PubMed Link: 32992916
Variant Present in the following documents:
  • Main text
  • ijms-21-07079.pdf
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Circulating Glutamine and Alzheimer's Disease: A Mendelian Randomization Study.

Clinical Interventions In Aging
Adams, Charleen D CD
Publication Date: 2020

Variant appearance in text: rs7982
PubMed Link: 32103921
Variant Present in the following documents:
  • Main text
  • cia-15-185.pdf
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Clusterin in Alzheimer's Disease: Mechanisms, Genetics, and Lessons From Other Pathologies.

Frontiers In Neuroscience
Foster, Evangeline M EM; Dangla-Valls, Adrià A; Lovestone, Simon S; Ribe, Elena M EM; Buckley, Noel J NJ
Publication Date: 2019

Variant appearance in text: rs7982
PubMed Link: 30872998
Variant Present in the following documents:
  • Main text
  • fnins-13-00164.pdf
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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs7982
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.

Neurobiology Of Aging
Katsumata, Yuriko Y; Nelson, Peter T PT; Estus, Steven S; , ; Fardo, David W DW
Publication Date: 2019-02

Variant appearance in text: rs7982
PubMed Link: 30448613
Variant Present in the following documents:
  • Main text
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Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Frontiers In Molecular Neuroscience
Sun, Qiying Q; Xie, Nina N; Tang, Beisha B; Li, Rena R; Shen, Yong Y
Publication Date: 2017

Variant appearance in text: rs7982
PubMed Link: 29056900
Variant Present in the following documents:
  • Main text
  • fnmol-10-00319.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7982
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Association between clusterin gene polymorphism rs11136000 and late-onset Alzheimer's disease susceptibility: A review and meta-analysis of case-control studies.

Experimental And Therapeutic Medicine
Du, Wenjin W; Tan, Jiping J; Xu, Wei W; Chen, Jinwen J; Wang, Luning L
Publication Date: 2016-11

Variant appearance in text: rs7982
PubMed Link: 27882096
Variant Present in the following documents:
  • Main text
  • etm-12-05-2915.pdf
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Effect of CLU genetic variants on cerebrospinal fluid and neuroimaging markers in healthy, mild cognitive impairment and Alzheimer's disease cohorts.

Scientific Reports
Tan, Lin L; Wang, Hui-Fu HF; Tan, Meng-Shan MS; Tan, Chen-Chen CC; Zhu, Xi-Chen XC; Miao, Dan D; Yu, Wan-Jiang WJ; Jiang, Teng T; Tan, Lan L; Yu, Jin-Tai JT; ,
Publication Date: 2016-05-27

Variant appearance in text: rs7982
PubMed Link: 27229352
Variant Present in the following documents:
  • Main text
  • srep26027.pdf
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A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.

Neurobiology Of Aging
Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Holmans, Peter P; Bertelsen, Sarah S; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Kauwe, John J; Goate, Alison A; Cruchaga, Carlos C; ,
Publication Date: 2016-01

Variant appearance in text: rs7982
PubMed Link: 26545630
Variant Present in the following documents:
  • Main text
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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: rs7982
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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Alzheimer's disease risk genes and mechanisms of disease pathogenesis.

Biological Psychiatry
Karch, Celeste M CM; Goate, Alison M AM
Publication Date: 2015-01-01

Variant appearance in text: rs7982
PubMed Link: 24951455
Variant Present in the following documents:
  • Main text
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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs7982
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs7982
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains.

Plos One
Karch, Celeste M CM; Jeng, Amanda T AT; Nowotny, Petra P; Cady, Janet J; Cruchaga, Carlos C; Goate, Alison M AM
Publication Date: 2012

Variant appearance in text: rs7982
PubMed Link: 23226438
Variant Present in the following documents:
  • Main text
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dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes.

Bmc Bioinformatics
Li, Hua H; Su, Xiao X; Gallegos, Juan J; Lu, Yue Y; Ji, Yuan Y; Molldrem, Jeffrey J JJ; Liang, Shoudan S
Publication Date: 2012-10-19

Variant appearance in text: rs7982
PubMed Link: 23083219
Variant Present in the following documents:
  • Main text
  • 1471-2105-13-271.pdf
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Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.

Molecular Neurodegeneration
Bettens, Karolien K; Brouwers, Nathalie N; Engelborghs, Sebastiaan S; Lambert, Jean-Charles JC; Rogaeva, Ekaterina E; Vandenberghe, Rik R; Le Bastard, Nathalie N; Pasquier, Florence F; Vermeulen, Steven S; Van Dongen, Jasper J; Mattheijssens, Maria M; Peeters, Karin K; Mayeux, Richard R; St George-Hyslop, Peter P; Amouyel, Philippe P; De Deyn, Peter P PP; Sleegers, Kristel K; Van Broeckhoven, Christine C
Publication Date: 2012-01-16

Variant appearance in text: rs7982
PubMed Link: 22248099
Variant Present in the following documents:
  • Main text
  • 1750-1326-7-3.pdf
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Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

Archives Of Neurology
Jun, Gyungah G; Naj, Adam C AC; Beecham, Gary W GW; Wang, Li-San LS; Buros, Jacqueline J; Gallins, Paul J PJ; Buxbaum, Joseph D JD; Ertekin-Taner, Nilufer N; Fallin, M Daniele MD; Friedland, Robert R; Inzelberg, Rivka R; Kramer, Patricia P; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; , ; Cantwell, Laura B LB; Dombroski, Beth A BA; Saykin, Andrew J AJ; Reiman, Eric M EM; Bennett, David A DA; Morris, John C JC; Lunetta, Kathryn L KL; Martin, Eden R ER; Montine, Thomas J TJ; Goate, Alison M AM; Blacker, Deborah D; Tsuang, Debby W DW; Beekly, Duane D; Cupples, L Adrienne LA; Hakonarson, Hakon H; Kukull, Walter W; Foroud, Tatiana M TM; Haines, Jonathan J; Mayeux, Richard R; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD
Publication Date: 2010-12

Variant appearance in text: rs7982
PubMed Link: 20697030
Variant Present in the following documents:
  • Main text
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Genetic variability in CLU and its association with Alzheimer's disease.

Plos One
Guerreiro, Rita J RJ; Beck, John J; Gibbs, J Raphael JR; Santana, Isabel I; Rossor, Martin N MN; Schott, Jonathan M JM; Nalls, Michael A MA; Ribeiro, Helena H; Santiago, Beatriz B; Fox, Nick C NC; Oliveira, Catarina C; Collinge, John J; Mead, Simon S; Singleton, Andrew A; Hardy, John J
Publication Date: 2010-03-03

Variant appearance in text: rs7982
PubMed Link: 20209083
Variant Present in the following documents:
  • Main text
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Genome-wide association studies in Alzheimer's disease.

Human Molecular Genetics
Bertram, Lars L; Tanzi, Rudolph E RE
Publication Date: 2009-10-15

Variant appearance in text: rs7982
PubMed Link: 19808789
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Nature Genetics
Harold, Denise D; Abraham, Richard R; Hollingworth, Paul P; Sims, Rebecca R; Gerrish, Amy A; Hamshere, Marian L ML; Pahwa, Jaspreet Singh JS; Moskvina, Valentina V; Dowzell, Kimberley K; Williams, Amy A; Jones, Nicola N; Thomas, Charlene C; Stretton, Alexandra A; Morgan, Angharad R AR; Lovestone, Simon S; Powell, John J; Proitsi, Petroula P; Lupton, Michelle K MK; Brayne, Carol C; Rubinsztein, David C DC; Gill, Michael M; Lawlor, Brian B; Lynch, Aoibhinn A; Morgan, Kevin K; Brown, Kristelle S KS; Passmore, Peter A PA; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Holmes, Clive C; Mann, David D; Smith, A David AD; Love, Seth S; Kehoe, Patrick G PG; Hardy, John J; Mead, Simon S; Fox, Nick N; Rossor, Martin M; Collinge, John J; Maier, Wolfgang W; Jessen, Frank F; Schürmann, Britta B; Heun, Reinhard R; van den Bussche, Hendrik H; Heuser, Isabella I; Kornhuber, Johannes J; Wiltfang, Jens J; Dichgans, Martin M; Frölich, Lutz L; Hampel, Harald H; Hüll, Michael M; Rujescu, Dan D; Goate, Alison M AM; Kauwe, John S K JS; Cruchaga, Carlos C; Nowotny, Petra P; Morris, John C JC; Mayo, Kevin K; Sleegers, Kristel K; Bettens, Karolien K; Engelborghs, Sebastiaan S; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Livingston, Gill G; Bass, Nicholas J NJ; Gurling, Hugh H; McQuillin, Andrew A; Gwilliam, Rhian R; Deloukas, Panagiotis P; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Tsolaki, Magda M; Singleton, Andrew B AB; Guerreiro, Rita R; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Jöckel, Karl-Heinz KH; Klopp, Norman N; Wichmann, H-Erich HE; Carrasquillo, Minerva M MM; Pankratz, V Shane VS; Younkin, Steven G SG; Holmans, Peter A PA; O'Donovan, Michael M; Owen, Michael J MJ; Williams, Julie J
Publication Date: 2009-10

Variant appearance in text: rs7982
PubMed Link: 19734902
Variant Present in the following documents:
  • Main text
  • ukmss-27833.pdf
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