Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: rs3752246

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM4_ESM.pdf

View BVdb publication page

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Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines

Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H

Publication Date: 2023-04-24

Variant appearance in text: rs3752246

PubMed Link: 37238932

Variant Present in the following documents:

• biomedicines-11-01261.pdf

View BVdb publication page

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Deep learning-based polygenic risk analysis for Alzheimer's disease prediction.

Communications Medicine

Zhou, Xiaopu X; Chen, Yu Y; Ip, Fanny C F FCF; Jiang, Yuanbing Y; Cao, Han H; Lv, Ge G; Zhong, Huan H; Chen, Jiahang J; Ye, Tao T; Chen, Yuewen Y; Zhang, Yulin Y; Ma, Shuangshuang S; Lo, Ronnie M N RMN; Tong, Estella P S EPS; , ; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Guo, Qihao Q; Mok, Kin Y KY; Shoai, Maryam M; Hardy, John J; Chen, Lei L; Fu, Amy K Y AKY; Ip, Nancy Y NY

Publication Date: 2023-04-06

Variant appearance in text: rs3752246

PubMed Link: 37024668

Variant Present in the following documents:

• Main text
• 43856_2023_Article_269.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCA7: G1527A

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ABCA7: G1527A; rs3752246

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ABCA7: G1527A

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: ABCA7: 4580G>C; Gly1527Ala

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Cell type-specific histone acetylation profiling of Alzheimer's disease subjects and integration with genetics.

Frontiers In Molecular Neuroscience

Ramamurthy, Easwaran E; Welch, Gwyneth G; Cheng, Jemmie J; Yuan, Yixin Y; Gunsalus, Laura L; Bennett, David A DA; Tsai, Li-Huei LH; Pfenning, Andreas R AR

Publication Date: 2022

Variant appearance in text: rs3752246

PubMed Link: 36683855

Variant Present in the following documents:

• Main text
• fnmol-15-948456.pdf

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: ABCA7: 4580G>C

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ABCA7: G1527A; rs3752246

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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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: ABCA7: G1527A; rs3752246

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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SNP-by-CpG Site Interactions in ABCA7 Are Associated with Cognition in Older African Americans.

Genes

Chaar, Dima L DL; Nguyen, Kim K; Wang, Yi-Zhe YZ; Ratliff, Scott M SM; Mosley, Thomas H TH; Kardia, Sharon L R SLR; Smith, Jennifer A JA; Zhao, Wei W

Publication Date: 2022-11-18

Variant appearance in text: rs3752246

PubMed Link: 36421824

Variant Present in the following documents:

• Main text
• genes-13-02150.pdf

View BVdb publication page

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PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2022-11-01

Variant appearance in text: ABCA7: Gly1527Ala

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

View BVdb publication page

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Metabolome-wide association study on ABCA7 indicates a role of ceramide metabolism in Alzheimer's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Dehghan, Abbas A; Pinto, Rui Climaco RC; Karaman, Ibrahim I; Huang, Jian J; Durainayagam, Brenan R BR; Ghanbari, Mohsen M; Nazeer, Areesha A; Zhong, Qi Q; Liggi, Sonia S; Whiley, Luke L; Mustafa, Rima R; Kivipelto, Miia M; Solomon, Alina A; Ngandu, Tiia T; Kanekiyo, Takahisa T; Aikawa, Tomonori T; Radulescu, Carola I CI; Barnes, Samuel J SJ; Graça, Gonçalo G; Chekmeneva, Elena E; Camuzeaux, Stephane S; Lewis, Matthew R MR; Kaluarachchi, Manuja R MR; Ikram, M Arfan MA; Holmes, Elaine E; Tzoulaki, Ioanna I; Matthews, Paul M PM; Griffin, Julian L JL; Elliott, Paul P

Publication Date: 2022-10-25

Variant appearance in text: rs3752246

PubMed Link: 36269859

Variant Present in the following documents:

• pnas.202206083.pdf
• pnas.2206083119.sapp.pdf

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: ABCA7: G1527A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: ABCA7: G1527A; rs3752246

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Identifying genetic markers enriched by brain imaging endophenotypes in Alzheimer's disease.

Bmc Medical Genomics

Kim, Mansu M; Wu, Ruiming R; Yao, Xiaohui X; Saykin, Andrew J AJ; Moore, Jason H JH; Shen, Li L; ,

Publication Date: 2022-08-01

Variant appearance in text: rs3752246

PubMed Link: 35915443

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1323.pdf

View BVdb publication page

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Association of APOE-Independent Alzheimer Disease Polygenic Risk Score With Brain Amyloid Deposition in Asymptomatic Older Adults.

Neurology

Xicota, Laura L; Gyorgy, Beata B; Grenier-Boley, Benjamin B; Lecoeur, Alexandre A; Fontaine, Gaà Lle GL; Danjou, Fabrice F; Gonzalez, Jorge Samper JS; Colliot, Olivier O; Amouyel, Philippe P; Martin, Garance G; Levy, Marcel M; Villain, Nicolas N; Habert, Marie-Odile MO; Dubois, Bruno B; Lambert, Jean-Charles JC; Potier, Marie-Claude MC; ,

Publication Date: 2022-05-23

Variant appearance in text: rs3752246

PubMed Link: 35606148

Variant Present in the following documents:

• WNL-2022-200600.pdf

View BVdb publication page

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Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90.

Scientific Reports

Heath, Laura L; Earls, John C JC; Magis, Andrew T AT; Kornilov, Sergey A SA; Lovejoy, Jennifer C JC; Funk, Cory C CC; Rappaport, Noa N; Logsdon, Benjamin A BA; Mangravite, Lara M LM; Kunkle, Brian W BW; Martin, Eden R ER; Naj, Adam C AC; Ertekin-Taner, Nilüfer N; Golde, Todd E TE; Hood, Leroy L; Price, Nathan D ND; ,

Publication Date: 2022-04-12

Variant appearance in text: rs3752246

PubMed Link: 35413975

Variant Present in the following documents:

• Main text
• 41598_2022_Article_9825.pdf

View BVdb publication page

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Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Acta Neuropathologica Communications

Bossaerts, Liene L; Hendrickx Van de Craen, Elisabeth E; Cacace, Rita R; Asselbergh, Bob B; Van Broeckhoven, Christine C

Publication Date: 2022-03-31

Variant appearance in text: ABCA7: G1527A

PubMed Link: 35361255

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1346.pdf

View BVdb publication page

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Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Journal Of Alzheimer'S Disease : Jad

Dong, Liling L; Mao, Chenhui C; Liu, Caiyan C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Lei, Dan D; Chu, Shanshan S; Sha, Longze L; Xu, Qi Q; Peng, Bin B; Cui, Liying L; Gao, Jing J

Publication Date: 2022

Variant appearance in text: ABCA7: 4580G>C; G1527A; rs3752246

PubMed Link: 34958020

Variant Present in the following documents:

• Main text
• jad-85-jad215067.pdf
• jad-85-jad215067-s001.pdf

View BVdb publication page

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Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kamboh, M Ilyas MI

Publication Date: 2022-01

Variant appearance in text: rs3752246

PubMed Link: 34935119

Variant Present in the following documents:

• Main text
• 13311_2021_Article_1152.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: ABCA7: G1527A

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ABCA7: G1527A; rs3752246

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ABCA7: G1527A; rs3752246

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Sex dependent glial-specific changes in the chromatin accessibility landscape in late-onset Alzheimer's disease brains.

Molecular Neurodegeneration

Barrera, Julio J; Song, Lingyun L; Gamache, Julia E JE; Garrett, Melanie E ME; Safi, Alexias A; Yun, Young Y; Premasinghe, Ivana I; Sprague, Daniel D; Chipman, Danielle D; Li, Jeffrey J; Fradin, Hélène H; Soldano, Karen K; Gordân, Raluca R; Ashley-Koch, Allison E AE; Crawford, Gregory E GE; Chiba-Falek, Ornit O

Publication Date: 2021-08-24

Variant appearance in text: rs3752246

PubMed Link: 34429139

Variant Present in the following documents:

• Main text

View BVdb publication page

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Probability of Alzheimer's disease based on common and rare genetic variants.

Alzheimer'S Research & Therapy

Escott-Price, Valentina V; Schmidt, Karl Michael KM

Publication Date: 2021-08-17

Variant appearance in text: rs3752246

PubMed Link: 34404470

Variant Present in the following documents:

• 13195_2021_884_MOESM1_ESM.pdf

View BVdb publication page

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Interaction of Alzheimer's Disease-Associated Genetic Risk with Indicators of Socioeconomic Position on Mild Cognitive Impairment in the Heinz Nixdorf Recall Study.

Journal Of Alzheimer'S Disease : Jad

Frank, Mirjam M; Hensel, Jonas J; Baak, Lisa L; Schramm, Sara S; Dragano, Nico N; Weimar, Christian C; Hoffmann, Per P; Nöthen, Markus M MM; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Jokisch, Martha M; Schmidt, Börge B

Publication Date: 2021

Variant appearance in text: rs3752246

PubMed Link: 34219719

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of Neuron and Glia in Alzheimer's Disease and Associated Vascular Dysfunction.

Frontiers In Aging Neuroscience

Bandyopadhyay, Sanghamitra S

Publication Date: 2021

Variant appearance in text: rs3752246

PubMed Link: 34211387

Variant Present in the following documents:

• Main text
• fnagi-13-653334.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ABCA7: 4580G>C; G1527A; rs3752246

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Role of ABCA7 in Human Health and in Alzheimer's Disease.

International Journal Of Molecular Sciences

Dib, Shiraz S; Pahnke, Jens J; Gosselet, Fabien F

Publication Date: 2021-04-27

Variant appearance in text: rs3752246

PubMed Link: 33925691

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA7 Regulates Brain Fatty Acid Metabolism During LPS-Induced Acute Inflammation.

Frontiers In Neuroscience

Aikawa, Tomonori T; Ren, Yingxue Y; Holm, Marie-Louise ML; Asmann, Yan W YW; Alam, Amer A; Fitzgerald, Michael L ML; Bu, Guojun G; Kanekiyo, Takahisa T

Publication Date: 2021

Variant appearance in text: rs3752246

PubMed Link: 33897360

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics

Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J

Publication Date: 2021-05-28

Variant appearance in text: ABCA7: 4580G>C; G1527A; rs3752246

PubMed Link: 33835157

Variant Present in the following documents:

• supplementary_tables_ddab090.xlsx, sheet 1

View BVdb publication page

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Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.

Frontiers In Aging Neuroscience

Vogrinc, David D; Goričar, Katja K; Dolžan, Vita V

Publication Date: 2021

Variant appearance in text: rs3752246

PubMed Link: 33815092

Variant Present in the following documents:

• Main text
• fnagi-13-646901.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ABCA7: Gly1527Ala; rs3752246

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ABCA7: 4580G>C; G1527A; rs3752246

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Associations of Alzheimer's disease risk variants with gene expression, amyloidosis, tauopathy, and neurodegeneration.

Alzheimer'S Research & Therapy

Tan, Meng-Shan MS; Yang, Yu-Xiang YX; Xu, Wei W; Wang, Hui-Fu HF; Tan, Lin L; Zuo, Chuan-Tao CT; Dong, Qiang Q; Tan, Lan L; Suckling, John J; Yu, Jin-Tai JT; ,

Publication Date: 2021-01-08

Variant appearance in text: rs3752246

PubMed Link: 33419465

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA7 and the altered lipidostasis hypothesis of Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Lyssenko, Nicholas N NN; Praticò, Domenico D

Publication Date: 2021-02

Variant appearance in text: rs3752246

PubMed Link: 33336544

Variant Present in the following documents:

• ALZ-17-164-s001.pdf

View BVdb publication page

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ABCA7 links sterol metabolism to the host defense system: Molecular background for potential management measure of Alzheimer's disease.

Gene

Abe-Dohmae, Sumiko S; Yokoyama, Shinji S

Publication Date: 2021-02-05

Variant appearance in text: ABCA7: G1527A

PubMed Link: 33221536

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: ABCA7: 4580G>C; Gly1527Ala

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.

Intractable & Rare Diseases Research

Algahtani, Hussein H; Shirah, Bader B; Alshareef, Alhusain A; Al-Qahtani, Mohammad H MH; Abdulkareem, Angham Abdulrahman AA; Naseer, Muhammad Imran MI

Publication Date: 2020-08

Variant appearance in text: rs3752246

PubMed Link: 32844072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association Between Episodic Memory and Genetic Risk Factors for Alzheimer's Disease in South Asians from the Longitudinal Aging Study in India-Diagnostic Assessment of Dementia (LASI-DAD).

Journal Of The American Geriatrics Society

Smith, Jennifer A JA; Zhao, Wei W; Yu, Miao M; Rumfelt, Kalee E KE; Moorjani, Priya P; Ganna, Andrea A; Dey, Aparajit B AB; Lee, Jinkook J; Kardia, Sharon L R SLR

Publication Date: 2020-08

Variant appearance in text: rs3752246

PubMed Link: 32815605

Variant Present in the following documents:

• Main text

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ADNC-RS, a clinical-genetic risk score, predicts Alzheimer's pathology in autopsy-confirmed Parkinson's disease and Dementia with Lewy bodies.

Acta Neuropathologica

Dai, David L DL; Tropea, Thomas F TF; Robinson, John L JL; Suh, Eunran E; Hurtig, Howard H; Weintraub, Daniel D; Van Deerlin, Vivianna V; Lee, Edward B EB; Trojanowski, John Q JQ; Chen-Plotkin, Alice S AS

Publication Date: 2020-10

Variant appearance in text: rs3752246

PubMed Link: 32749525

Variant Present in the following documents:

• Main text

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: ABCA7: G1527A; rs3752246

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ABCA7: G1527A; rs3752246

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.

International Journal Of Molecular Sciences

Cacabelos, Ramon R

Publication Date: 2020-04-26

Variant appearance in text: rs3752246

PubMed Link: 32357528

Variant Present in the following documents:

• Main text

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: ABCA7: 4580G>C; G1527A; rs3752246

PubMed Link: 32345996

Variant Present in the following documents:

• Main text
• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2
• 41598_2020_Article_63183.pdf

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