Publications:

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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: rs1010159

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs1010159

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1010159

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs1010159

PubMed Link: 35456392

Variant Present in the following documents:

• Main text
• genes-13-00587.pdf

View BVdb publication page

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Alzheimer Disease: Recent Updates on Apolipoprotein E and Gut Microbiome Mediation of Oxidative Stress, and Prospective Interventional Agents.

Aging And Disease

Botchway, Benson Oa BO; Okoye, Favour C FC; Chen, Yili Y; Arthur, William E WE; Fang, Marong M

Publication Date: 2022-02

Variant appearance in text: rs1010159

PubMed Link: 35111364

Variant Present in the following documents:

• Main text
• ad-13-1-87.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: rs1010159

PubMed Link: 33352859

Variant Present in the following documents:

• Main text
• genes-11-01514.pdf

View BVdb publication page

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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: rs1010159

PubMed Link: 33313639

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Association Between Sortilin and Inflammation in Patients with Coronary Heart Disease.

Journal Of Inflammation Research

Han, Wenxiu W; Wei, Zhijie Z; Zhang, Hailiang H; Geng, Chunmei C; Dang, Ruili R; Yang, Mengqi M; Zhang, Jun J; Wang, Changshui C; Jiang, Pei P

Publication Date: 2020

Variant appearance in text: rs1010159

PubMed Link: 32104044

Variant Present in the following documents:

• Main text
• jir-13-71.pdf

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs1010159

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

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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: rs1010159

PubMed Link: 31450785

Variant Present in the following documents:

• cells-08-00962-s001.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SORL1: 5323-44C>T; rs1010159

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs1010159

PubMed Link: 29865048

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 28034305

Variant Present in the following documents:

• Main text
• 13195_2016_Article_222.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1010159

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Genetics of Alzheimer's disease in Caribbean Hispanic and African American populations.

Biological Psychiatry

Reitz, Christiane C; Mayeux, Richard R

Publication Date: 2014-04-01

Variant appearance in text: rs1010159

PubMed Link: 23890735

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 23565137

Variant Present in the following documents:

• Main text
• pone.0058618.pdf

View BVdb publication page

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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: rs1010159

PubMed Link: 21997402

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 21537449

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 21220680

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 20634593

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 20061642

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 19906263

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 19362127

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 19064752

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

Neurogenetics

Kauwe, John S K JS; Wang, Jun J; Mayo, Kevin K; Morris, John C JC; Fagan, Anne M AM; Holtzman, David M DM; Goate, Alison M AM

Publication Date: 2009-02

Variant appearance in text: rs1010159

PubMed Link: 18813964

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 18713574

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 18090307

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 17978276

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 17949987

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.

Bmc Medical Genetics

Seshadri, Sudha S; DeStefano, Anita L AL; Au, Rhoda R; Massaro, Joseph M JM; Beiser, Alexa S AS; Kelly-Hayes, Margaret M; Kase, Carlos S CS; D'Agostino, Ralph B RB; Decarli, Charles C; Atwood, Larry D LD; Wolf, Philip A PA

Publication Date: 2007-09-19

Variant appearance in text: rs1010159

PubMed Link: 17903297

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 17826910

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 17803354

Variant Present in the following documents:

• pbio.0050254.pdf

View BVdb publication page

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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: rs1010159

PubMed Link: 17420311

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1010159

PubMed Link: 17220890

Variant Present in the following documents:

• Main text

View BVdb publication page

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