SORL1 c.939+163C>A

Variant ID: 11-121367921-C-A

NM_003105.5(SORL1):c.939+163C>A

This variant was identified in 30 publications

View GRCh38 version.




Publications:


SORL1 Polymorphisms in Mexican Patients with Alzheimer's Disease.

Genes
Toral-Rios, Danira D; Ruiz-Sánchez, Elizabeth E; Rodríguez, Nancy Lucero Martínez NLM; Maury-Rosillo, Marlene M; Rosas-Carrasco, Óscar Ó; Becerril-Pérez, Fernando F; Mena-Barranco, Francisco F; Carvajal-García, Rosa R; Silva-Adaya, Daniela D; Delgado-Namorado, Yair Y; Ramos-Palacios, Gerardo G; Sánchez-Torres, Carmen C; Campos-Peña, Victoria V
Publication Date: 2022-03-25

Variant appearance in text: rs668387
PubMed Link: 35456392
Variant Present in the following documents:
  • Main text
  • genes-13-00587.pdf
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Cognitive Processing Speed Is Strongly Related to Driving Skills, Financial Abilities, and Other Instrumental Activities of Daily Living in Persons With Mild Cognitive Impairment and Mild Dementia.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Wadley, Virginia G VG; Bull, Tyler P TP; Zhang, Yue Y; Barba, Cheyanne C; Bryan, R Nick RN; Crowe, Michael M; Desiderio, Lisa L; Deutsch, Georg G; Erus, Guray G; Geldmacher, David S DS; Go, Rodney R; Lassen-Greene, Caroline L CL; Mamaeva, Olga A OA; Marson, Daniel C DC; McLaughlin, Marianne M; Nasrallah, Ilya M IM; Owsley, Cynthia C; Passler, Jesse J; Perry, Rodney T RT; Pilonieta, Giovanna G; Steward, Kayla A KA; Kennedy, Richard E RE
Publication Date: 2021-09-13

Variant appearance in text: rs668387
PubMed Link: 33313639
Variant Present in the following documents:
  • Main text
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Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer's disease.

Molecular Neurodegeneration
Guo, Tiantian T; Zhang, Denghong D; Zeng, Yuzhe Y; Huang, Timothy Y TY; Xu, Huaxi H; Zhao, Yingjun Y
Publication Date: 2020-07-16

Variant appearance in text: rs668387
PubMed Link: 32677986
Variant Present in the following documents:
  • Main text
  • 13024_2020_Article_391.pdf
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A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study.

International Journal Of Geriatric Psychiatry
Driscoll, Ira I; Snively, Beverly M BM; Espeland, Mark A MA; Shumaker, Sally A SA; Rapp, Stephen R SR; Goveas, Joseph S JS; Casanova, Ramon L RL; Wactawski-Wende, Jean J; Manson, JoAnn E JE; Rossom, Rebecca R; Brooks, Janet J; Hernandez, Dena G DG; Singleton, Andrew B AB; Resnick, Susan M SM
Publication Date: 2019-05

Variant appearance in text: rs668387
PubMed Link: 30706571
Variant Present in the following documents:
  • Main text
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Genetic Risk for Age-Related Cognitive Impairment Does Not Predict Cognitive Performance in Middle Age.

Journal Of Alzheimer'S Disease : Jad
Korthauer, Laura E LE; Awe, Elizabeth E; Frahmand, Marijam M; Driscoll, Ira I
Publication Date: 2018

Variant appearance in text: rs668387
PubMed Link: 29865048
Variant Present in the following documents:
  • Main text
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Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China.

Plos One
Jiao, Bin B; Liu, Xiaoyan X; Zhou, Lin L; Wang, Maggie Haitian MH; Zhou, Yafang Y; Xiao, Tingting T; Zhang, Weiwei W; Sun, Rui R; Waye, Mary Miu Yee MM; Tang, Beisha B; Shen, Lu L
Publication Date: 2015

Variant appearance in text: rs668387
PubMed Link: 26680604
Variant Present in the following documents:
  • Main text
  • pone.0144898.pdf
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Early Life Epidemiology of Alzheimer's Disease--A Critical Review.

Neuroepidemiology
Seifan, Alon A; Schelke, Matthew M; Obeng-Aduasare, Yaa Y; Isaacson, Richard R
Publication Date: 2015

Variant appearance in text: rs668387
PubMed Link: 26501691
Variant Present in the following documents:
  • Main text
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The SORL1 gene and convergent neural risk for Alzheimer's disease across the human lifespan.

Molecular Psychiatry
Felsky, D D; Szeszko, P P; Yu, L L; Honer, W G WG; De Jager, P L PL; Schneider, J A JA; Malhotra, A K AK; Lencz, T T; Ikuta, T T; Pipitone, J J; Chakravarty, M M MM; Lobaugh, N J NJ; Mulsant, B H BH; Pollock, B G BG; Kennedy, J L JL; Bennett, D A DA; Voineskos, A N AN
Publication Date: 2014-10

Variant appearance in text: rs668387
PubMed Link: 24166411
Variant Present in the following documents:
  • Main text
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SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

Plos One
Miyashita, Akinori A; Koike, Asako A; Jun, Gyungah G; Wang, Li-San LS; Takahashi, Satoshi S; Matsubara, Etsuro E; Kawarabayashi, Takeshi T; Shoji, Mikio M; Tomita, Naoki N; Arai, Hiroyuki H; Asada, Takashi T; Harigaya, Yasuo Y; Ikeda, Masaki M; Amari, Masakuni M; Hanyu, Haruo H; Higuchi, Susumu S; Ikeuchi, Takeshi T; Nishizawa, Masatoyo M; Suga, Masaichi M; Kawase, Yasuhiro Y; Akatsu, Hiroyasu H; Kosaka, Kenji K; Yamamoto, Takayuki T; Imagawa, Masaki M; Hamaguchi, Tsuyoshi T; Yamada, Masahito M; Morihara, Takashi T; Moriaha, Takashi T; Takeda, Masatoshi M; Takao, Takeo T; Nakata, Kenji K; Fujisawa, Yoshikatsu Y; Sasaki, Ken K; Watanabe, Ken K; Nakashima, Kenji K; Urakami, Katsuya K; Ooya, Terumi T; Takahashi, Mitsuo M; Yuzuriha, Takefumi T; Serikawa, Kayoko K; Yoshimoto, Seishi S; Nakagawa, Ryuji R; Kim, Jong-Won JW; Ki, Chang-Seok CS; Won, Hong-Hee HH; Na, Duk L DL; Seo, Sang Won SW; Mook-Jung, Inhee I; , ; St George-Hyslop, Peter P; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Yoshida, Makiko M; Nishida, Nao N; Tokunaga, Katsushi K; Yamamoto, Ken K; Tsuji, Shoji S; Kanazawa, Ichiro I; Ihara, Yasuo Y; Schellenberg, Gerard D GD; Farrer, Lindsay A LA; Kuwano, Ryozo R
Publication Date: 2013

Variant appearance in text: rs668387
PubMed Link: 23565137
Variant Present in the following documents:
  • Main text
  • pone.0058618.pdf
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Sortilin receptor 1 predicts longitudinal cognitive change.

Neurobiology Of Aging
Reynolds, Chandra A CA; Zavala, Catalina C; Gatz, Margaret M; Vie, Loryana L; Johansson, Boo B; Malmberg, Bo B; Ingelsson, Erik E; Prince, Jonathan A JA; Pedersen, Nancy L NL
Publication Date: 2013-06

Variant appearance in text: rs668387
PubMed Link: 23318115
Variant Present in the following documents:
  • Main text
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The genetics and neuropathology of Alzheimer's disease.

Acta Neuropathologica
Schellenberg, Gerard D GD; Montine, Thomas J TJ
Publication Date: 2012-09

Variant appearance in text: rs668387
PubMed Link: 22618995
Variant Present in the following documents:
  • Main text
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Impact of SORL1 single nucleotide polymorphisms on Alzheimer's disease cerebrospinal fluid markers.

Dementia And Geriatric Cognitive Disorders
Alexopoulos, Panagiotis P; Guo, Liang-Hao LH; Kratzer, Martina M; Westerteicher, Christine C; Kurz, Alexander A; Perneczky, Robert R
Publication Date: 2011

Variant appearance in text: rs668387
PubMed Link: 21997402
Variant Present in the following documents:
  • Main text
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Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Braskie, Meredith N MN; Ringman, John M JM; Thompson, Paul M PM
Publication Date: 2011-03-31

Variant appearance in text: rs668387
PubMed Link: 21547229
Variant Present in the following documents:
  • Main text
  • IJAD2011-490140.pdf
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Meta-analysis of the association between variants in SORL1 and Alzheimer disease.

Archives Of Neurology
Reitz, Christiane C; Cheng, Rong R; Rogaeva, Ekaterina E; Lee, Joseph H JH; Tokuhiro, Shinya S; Zou, Fanggeng F; Bettens, Karolien K; Sleegers, Kristel K; Tan, Eng King EK; Kimura, Ryo R; Shibata, Nobuto N; Arai, Heii H; Kamboh, M Ilyas MI; Prince, Jonathan A JA; Maier, Wolfgang W; Riemenschneider, Matthias M; Owen, Michael M; Harold, Denise D; Hollingworth, Paul P; Cellini, Elena E; Sorbi, Sandro S; Nacmias, Benedetta B; Takeda, Masatoshi M; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Younkin, Steven S; Williams, Julie J; van Broeckhoven, Christine C; Farrer, Lindsay A LA; St George-Hyslop, Peter H PH; Mayeux, Richard R; ,
Publication Date: 2011-01

Variant appearance in text: rs668387
PubMed Link: 21220680
Variant Present in the following documents:
  • Main text
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Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels.

Journal Of Alzheimer'S Disease : Jad
Kauwe, John S K JS; Cruchaga, Carlos C; Bertelsen, Sarah S; Mayo, Kevin K; Latu, Wayne W; Nowotny, Petra P; Hinrichs, Anthony L AL; Fagan, Anne M AM; Holtzman, David M DM; , ; Goate, Alison M AM
Publication Date: 2010

Variant appearance in text: rs668387
PubMed Link: 20634593
Variant Present in the following documents:
  • Main text
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Use of genetic variation as biomarkers for mild cognitive impairment and progression of mild cognitive impairment to dementia.

Journal Of Alzheimer'S Disease : Jad
Reitz, Christiane C; Mayeux, Richard R
Publication Date: 2010

Variant appearance in text: rs668387
PubMed Link: 20061642
Variant Present in the following documents:
  • Main text
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Use of genetic variation as biomarkers for Alzheimer's disease.

Annals Of The New York Academy Of Sciences
Reitz, Christiane C; Mayeux, Richard R
Publication Date: 2009-10

Variant appearance in text: rs668387
PubMed Link: 19906263
Variant Present in the following documents:
  • Main text
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Sequence variation in SORL1 and dementia risk in Swedes.

Neurogenetics
Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Gatz, Margaret M; Pedersen, Nancy L NL; Bennet, Anna M AM; Prince, Jonathan A JA
Publication Date: 2010-02

Variant appearance in text: rs668387
PubMed Link: 19653016
Variant Present in the following documents:
  • Main text
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Endophenotypes in normal brain morphology and Alzheimer's disease: a review.

Neuroscience
Reitz, C C; Mayeux, R R
Publication Date: 2009-11-24

Variant appearance in text: rs668387
PubMed Link: 19362127
Variant Present in the following documents:
  • Main text
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Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease.

Archives Of Neurology
T Cuenco, Karen K; Lunetta, Kathryn L KL; Baldwin, Clinton T CT; McKee, Ann C AC; Guo, Jianping J; Cupples, L Adrienne LA; Green, Robert C RC; St George-Hyslop, Peter H PH; Chui, Helena H; DeCarli, Charles C; Farrer, Lindsay A LA; ,
Publication Date: 2008-12

Variant appearance in text: rs668387
PubMed Link: 19064752
Variant Present in the following documents:
  • Main text
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Possible association between SORL1 and Alzheimer disease? Reanalysing the data of Shibata et al.

Dementia And Geriatric Cognitive Disorders
Lee, Joseph H JH; Shibata, Nobuto N; Cheng, Rong R; Mayeux, Richard R
Publication Date: 2008

Variant appearance in text: rs668387
PubMed Link: 18984959
Variant Present in the following documents:
  • Main text
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Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology
Kavvoura, Fotini K FK; McQueen, Matthew B MB; Khoury, Muin J MJ; Tanzi, Rudolph E RE; Bertram, Lars L; Ioannidis, John P A JP
Publication Date: 2008-10-15

Variant appearance in text: rs668387
PubMed Link: 18779388
Variant Present in the following documents:
  • Main text
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The neuronal sortilin-related receptor gene SORL1 and late-onset Alzheimer's disease.

Current Neurology And Neuroscience Reports
Lee, Joseph H JH; Barral, Sandra S; Reitz, Christiane C
Publication Date: 2008-09

Variant appearance in text: rs668387
PubMed Link: 18713574
Variant Present in the following documents:
  • Main text
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Association between SORL1 and Alzheimer's disease in a genome-wide study.

Neuroreport
Meng, Yan Y; Lee, Joseph H JH; Cheng, Rong R; St George-Hyslop, Peter P; Mayeux, Richard R; Farrer, Lindsay A LA
Publication Date: 2007-11-19

Variant appearance in text: rs668387
PubMed Link: 18090307
Variant Present in the following documents:
  • Main text
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Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease.

Neurology
Lee, J H JH; Cheng, R R; Honig, L S LS; Vonsattel, J-P G JP; Clark, L L; Mayeux, R R
Publication Date: 2008-03-11

Variant appearance in text: rs668387
PubMed Link: 17978276
Variant Present in the following documents:
  • Main text
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SORL1 variants and risk of late-onset Alzheimer's disease.

Neurobiology Of Disease
Li, Yonghong Y; Rowland, Charles C; Catanese, Joseph J; Morris, John J; Lovestone, Simon S; O'Donovan, Michael C MC; Goate, Alison A; Owen, Michael M; Williams, Julie J; Grupe, Andrew A
Publication Date: 2008-02

Variant appearance in text: rs668387
PubMed Link: 17949987
Variant Present in the following documents:
  • Main text
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Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome.

Neuroscience Letters
Lee, Joseph H JH; Chulikavit, Maruit M; Pang, Deborah D; Zigman, Warren B WB; Silverman, Wayne W; Schupf, Nicole N
Publication Date: 2007-09-25

Variant appearance in text: rs668387
PubMed Link: 17826910
Variant Present in the following documents:
  • Main text
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The diploid genome sequence of an individual human.

Plos Biology
Levy, Samuel S; Sutton, Granger G; Ng, Pauline C PC; Feuk, Lars L; Halpern, Aaron L AL; Walenz, Brian P BP; Axelrod, Nelson N; Huang, Jiaqi J; Kirkness, Ewen F EF; Denisov, Gennady G; Lin, Yuan Y; MacDonald, Jeffrey R JR; Pang, Andy Wing Chun AW; Shago, Mary M; Stockwell, Timothy B TB; Tsiamouri, Alexia A; Bafna, Vineet V; Bansal, Vikas V; Kravitz, Saul A SA; Busam, Dana A DA; Beeson, Karen Y KY; McIntosh, Tina C TC; Remington, Karin A KA; Abril, Josep F JF; Gill, John J; Borman, Jon J; Rogers, Yu-Hui YH; Frazier, Marvin E ME; Scherer, Stephen W SW; Strausberg, Robert L RL; Venter, J Craig JC
Publication Date: 2007-09-04

Variant appearance in text: rs668387
PubMed Link: 17803354
Variant Present in the following documents:
  • pbio.0050254.pdf
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The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.

Archives Of Neurology
Lee, Joseph H JH; Cheng, Rong R; Schupf, Nicole N; Manly, Jennifer J; Lantigua, Rafael R; Stern, Yaakov Y; Rogaeva, Ekaterina E; Wakutani, Yosuke Y; Farrer, Lindsay L; St George-Hyslop, Peter P; Mayeux, Richard R
Publication Date: 2007-04

Variant appearance in text: rs668387
PubMed Link: 17420311
Variant Present in the following documents:
  • Main text
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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.

Nature Genetics
Rogaeva, Ekaterina E; Meng, Yan Y; Lee, Joseph H JH; Gu, Yongjun Y; Kawarai, Toshitaka T; Zou, Fanggeng F; Katayama, Taiichi T; Baldwin, Clinton T CT; Cheng, Rong R; Hasegawa, Hiroshi H; Chen, Fusheng F; Shibata, Nobuto N; Lunetta, Kathryn L KL; Pardossi-Piquard, Raphaelle R; Bohm, Christopher C; Wakutani, Yosuke Y; Cupples, L Adrienne LA; Cuenco, Karen T KT; Green, Robert C RC; Pinessi, Lorenzo L; Rainero, Innocenzo I; Sorbi, Sandro S; Bruni, Amalia A; Duara, Ranjan R; Friedland, Robert P RP; Inzelberg, Rivka R; Hampe, Wolfgang W; Bujo, Hideaki H; Song, You-Qiang YQ; Andersen, Olav M OM; Willnow, Thomas E TE; Graff-Radford, Neill N; Petersen, Ronald C RC; Dickson, Dennis D; Der, Sandy D SD; Fraser, Paul E PE; Schmitt-Ulms, Gerold G; Younkin, Steven S; Mayeux, Richard R; Farrer, Lindsay A LA; St George-Hyslop, Peter P
Publication Date: 2007-02

Variant appearance in text: rs668387
PubMed Link: 17220890
Variant Present in the following documents:
  • Main text
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