SORL1 c.3738C>G ;(p.N1246K)

Variant ID: 11-121456962-C-G

NM_003105.5(SORL1):c.3738C>G;(p.N1246K)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1699102
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Endophenotypic effects of the SORL1 variant rs2298813 on regional brain volume in patients with late-onset Alzheimer's disease.

Frontiers In Aging Neuroscience
Chen, Chun-Yu CY; Lin, Yung-Shuan YS; Lee, Wei-Ju WJ; Liao, Yi-Chu YC; Kuo, Yu-Shan YS; Yang, Albert C AC; Fuh, Jong-Ling JL
Publication Date: 2022

Variant appearance in text: rs1699102
PubMed Link: 35992588
Variant Present in the following documents:
  • Main text
  • fnagi-14-885090.pdf
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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: rs1699102
PubMed Link: 35456392
Variant Present in the following documents:
  • Main text
  • genes-13-00587.pdf
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The relationship of early- and late-onset Alzheimer's disease genes with COVID-19.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Sirin, Seda S; Nigdelioglu Dolanbay, Serap S; Aslim, Belma B
Publication Date: 2022-07

Variant appearance in text: rs1699102
PubMed Link: 35429259
Variant Present in the following documents:
  • Main text
  • 702_2022_Article_2499.pdf
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Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.

International Journal Of Molecular Sciences
Benussi, Luisa L; Longobardi, Antonio A; Kocoglu, Cemile C; Carrara, Matteo M; Bellini, Sonia S; Ferrari, Clarissa C; Nicsanu, Roland R; Saraceno, Claudia C; Bonvicini, Cristian C; Fostinelli, Silvia S; Zanardini, Roberta R; Catania, Marcella M; Moisse, Matthieu M; Van Damme, Philip P; Di Fede, Giuseppe G; Binetti, Giuliano G; Van Broeckhoven, Christine C; van der Zee, Julie J; Ghidoni, Roberta R
Publication Date: 2021-12-20

Variant appearance in text: SORL1: N1246K; rs1699102
PubMed Link: 34948429
Variant Present in the following documents:
  • Main text
  • ijms-22-13633.pdf
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Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.

International Journal Of Molecular Sciences
Benussi, Luisa L; Longobardi, Antonio A; Kocoglu, Cemile C; Carrara, Matteo M; Bellini, Sonia S; Ferrari, Clarissa C; Nicsanu, Roland R; Saraceno, Claudia C; Bonvicini, Cristian C; Fostinelli, Silvia S; Zanardini, Roberta R; Catania, Marcella M; Moisse, Matthieu M; Van Damme, Philip P; Di Fede, Giuseppe G; Binetti, Giuliano G; Van Broeckhoven, Christine C; van der Zee, Julie J; Ghidoni, Roberta R
Publication Date: 2021-12-20

Variant appearance in text: SORL1: N1246K; rs1699102
PubMed Link: 34948429
Variant Present in the following documents:
  • Main text
  • ijms-22-13633.pdf
View BVdb publication page



Use of Deep-Learning Genomics to Discriminate Healthy Individuals from Those with Alzheimer's Disease or Mild Cognitive Impairment.

Behavioural Neurology
Li, Lanlan L; Yang, Yeying Y; Zhang, Qi Q; Wang, Jiao J; Jiang, Jiehui J; Neuroimaging Initiative, Alzheimer's Disease AD
Publication Date: 2021

Variant appearance in text: rs1699102
PubMed Link: 34336000
Variant Present in the following documents:
  • Main text
  • BN2021-3359103.pdf
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Genetic Variants behind Cardiovascular Diseases and Dementia.

Genes
Ho, Wei-Min WM; Wu, Yah-Yuan YY; Chen, Yi-Chun YC
Publication Date: 2020-12-18

Variant appearance in text: rs1699102
PubMed Link: 33352859
Variant Present in the following documents:
  • Main text
  • genes-11-01514.pdf
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1699102
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Case report of first-episode psychotic symptoms in a patient with early-onset Alzheimer's disease.

Bmc Psychiatry
Li, Xiao X; Xiong, Zhenzhen Z; Liu, Yaya Y; Yuan, Yiwen Y; Deng, Junfeng J; Xiang, Weiyi W; Li, Zhe Z
Publication Date: 2020-03-17

Variant appearance in text: rs1699102
PubMed Link: 32183776
Variant Present in the following documents:
  • 12888_2020_Article_2537.pdf
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Mutant Huntingtin Affects Diabetes and Alzheimer's Markers in Human and Cell Models of Huntington's Disease.

Cells
Chaves, Gepoliano G; Stanley, John J; Pourmand, Nader N
Publication Date: 2019-08-23

Variant appearance in text: rs1699102
PubMed Link: 31450785
Variant Present in the following documents:
  • cells-08-00962-s001.pdf
  • cells-08-00962.pdf
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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1699102
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
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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: rs1699102
PubMed Link: 29865048
Variant Present in the following documents:
  • Main text
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The role of melatonin in the onset and progression of type 3 diabetes.

Molecular Brain
Song, Juhyun J; Whitcomb, Daniel J DJ; Kim, Byeong C BC
Publication Date: 2017-08-01

Variant appearance in text: rs1699102
PubMed Link: 28764741
Variant Present in the following documents:
  • 13041_2017_Article_315.pdf
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Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

European Journal Of Human Genetics : Ejhg
Holstege, Henne H; van der Lee, Sven J SJ; Hulsman, Marc M; Wong, Tsz Hang TH; van Rooij, Jeroen Gj JG; Weiss, Marjan M; Louwersheimer, Eva E; Wolters, Frank J FJ; Amin, Najaf N; Uitterlinden, André G AG; Hofman, Albert A; Ikram, M Arfan MA; van Swieten, John C JC; Meijers-Heijboer, Hanne H; van der Flier, Wiesje M WM; Reinders, Marcel Jt MJ; van Duijn, Cornelia M CM; Scheltens, Philip P
Publication Date: 2017-08

Variant appearance in text: rs1699102
PubMed Link: 28537274
Variant Present in the following documents:
  • ejhg201787x2.xlsx, sheet 1
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A Bayesian group sparse multi-task regression model for imaging genetics.

Bioinformatics (Oxford, England)
Greenlaw, Keelin K; Szefer, Elena E; Graham, Jinko J; Lesperance, Mary M; Nathoo, Farouk S FS; ,
Publication Date: 2017-08-15

Variant appearance in text: rs1699102
PubMed Link: 28419235
Variant Present in the following documents:
  • Main text
View BVdb publication page



SORL1 gene, plasma biomarkers, and the risk of Alzheimer's disease for the Han Chinese population in Taiwan.

Alzheimer'S Research & Therapy
Chou, Cheng-Ta CT; Liao, Yi-Chu YC; Lee, Wei-Ju WJ; Wang, Shuu-Jiun SJ; Fuh, Jong-Ling JL
Publication Date: 2016-12-30

Variant appearance in text: rs1699102
PubMed Link: 28034305
Variant Present in the following documents:
  • Main text
  • 13195_2016_Article_222.pdf
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SORL1 rs1699102 polymorphism modulates age-related cognitive decline and gray matter volume reduction in non-demented individuals.

European Journal Of Neurology
Li, He H; Lv, Chenlong C; Yang, Caishui C; Wei, Dongfeng D; Chen, Kewei K; Li, Shaowu S; Zhang, Zhanjun Z
Publication Date: 2017-01

Variant appearance in text: rs1699102
PubMed Link: 27779372
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: rs1699102
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: rs1699102
PubMed Link: 23318115
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1699102
PubMed Link: 21997402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.

International Journal Of Molecular Epidemiology And Genetics
Webster, Jennifer J; Reiman, Eric M EM; Zismann, Victoria L VL; Joshipura, Keta D KD; Pearson, John V JV; Hu-Lince, Diane D; Huentelman, Matthew J MJ; Craig, David W DW; Coon, Keith D KD; Beach, Thomas T; Rohrer, Kristen C KC; Zhao, Alice S AS; Leung, Doris D; Bryden, Leslie L; Marlowe, Lauren L; Kaleem, Mona M; Mastroeni, Diego D; Grover, Andrew A; Rogers, Joseph J; Heun, Reinhard R; Jessen, Frank F; Kölsch, Heike H; Heward, Christopher B CB; Ravid, Rivka R; Hutton, Michael L ML; Melquist, Stacey S; Petersen, Ron C RC; Caselli, Richard J RJ; Papassotiropoulos, Andreas A; Stephan, Dietrich A DA; Hardy, John J; Myers, Amanda A
Publication Date: 2010

Variant appearance in text: rs1699102
PubMed Link: 21537449
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1699102
PubMed Link: 19653016
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1699102
PubMed Link: 19064752
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1699102
PubMed Link: 17978276
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1699102
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: rs1699102
PubMed Link: 17826910
Variant Present in the following documents:
  • Main text
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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: rs1699102
PubMed Link: 17420311
Variant Present in the following documents:
  • Main text
View BVdb publication page