Publications:

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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: H395R

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: H395R; rs3764647

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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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: ABCA7: His395Arg; rs3764647

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: His395Arg

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.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: H395R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

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: 1184A>G; H395R; rs3764647

PubMed Link: 34958020

Variant Present in the following documents:

• jad-85-jad215067-s001.pdf

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: 1184A>G; H395R; rs3764647

PubMed Link: 33835157

Variant Present in the following documents:

• supplementary_tables_ddab090.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: rs3764647

PubMed Link: 32844072

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1184A>G; H395R; rs3764647

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Alteration in the Function and Expression of SLC and ABC Transporters in the Neurovascular Unit in Alzheimer's Disease and the Clinical Significance.

Aging And Disease

Jia, Yongming Y; Wang, Na N; Zhang, Yingbo Y; Xue, Di D; Lou, Haoming H; Liu, Xuewei X

Publication Date: 2020-04

Variant appearance in text: rs3764647

PubMed Link: 32257549

Variant Present in the following documents:

• Main text
• ad-11-2-390.pdf

View BVdb publication page

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: ABCA7: 1184A>G; H395R; rs3764647

PubMed Link: 32121568

Variant Present in the following documents:

• diagnostics-10-00135-s001.pdf

View BVdb publication page

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: ABCA7: 1184A>G; His395Arg; rs3764647

PubMed Link: 31182772

Variant Present in the following documents:

• 41598_2019_44848_MOESM1_ESM.pdf

View BVdb publication page

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Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants.

Frontiers In Neuroscience

Logue, Mark W MW; Lancour, Daniel D; Farrell, John J; Simkina, Irina I; Fallin, M Daniele MD; Lunetta, Kathryn L KL; Farrer, Lindsay A LA

Publication Date: 2018

Variant appearance in text: rs3764647

PubMed Link: 30210277

Variant Present in the following documents:

• Main text
• fnins-12-00592.pdf

View BVdb publication page

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ABCA7 and Pathogenic Pathways of Alzheimer's Disease.

Brain Sciences

Aikawa, Tomonori T; Holm, Marie-Louise ML; Kanekiyo, Takahisa T

Publication Date: 2018-02-05

Variant appearance in text: ABCA7: His395Arg; rs3764647

PubMed Link: 29401741

Variant Present in the following documents:

• Main text
• brainsci-08-00027.pdf

View BVdb publication page

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African American exome sequencing identifies potential risk variants at Alzheimer disease loci.

Neurology. Genetics

N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Burgess, Jeremy D JD; Nguyen, Thuy T; Asmann, Yan W YW; Serie, Daniel J DJ; Younkin, Steven G SG; Allen, Mariet M; Pedraza, Otto O; Duara, Ranjan R; Greig Custo, Maria T MT; Graff-Radford, Neill R NR; Ertekin-Taner, Nilüfer N

Publication Date: 2017-04

Variant appearance in text: ABCA7: His395Arg; rs3764647

PubMed Link: 28480329

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

Acta Neuropathologica

De Roeck, Arne A; Van den Bossche, Tobi T; van der Zee, Julie J; Verheijen, Jan J; De Coster, Wouter W; Van Dongen, Jasper J; Dillen, Lubina L; Baradaran-Heravi, Yalda Y; Heeman, Bavo B; Sanchez-Valle, Raquel R; Lladó, Albert A; Nacmias, Benedetta B; Sorbi, Sandro S; Gelpi, Ellen E; Grau-Rivera, Oriol O; Gómez-Tortosa, Estrella E; Pastor, Pau P; Ortega-Cubero, Sara S; Pastor, Maria A MA; Graff, Caroline C; Thonberg, Håkan H; Benussi, Luisa L; Ghidoni, Roberta R; Binetti, Giuliano G; de Mendonça, Alexandre A; Martins, Madalena M; Borroni, Barbara B; Padovani, Alessandro A; Almeida, Maria Rosário MR; Santana, Isabel I; Diehl-Schmid, Janine J; Alexopoulos, Panagiotis P; Clarimon, Jordi J; Lleó, Alberto A; Fortea, Juan J; Tsolaki, Magda M; Koutroumani, Maria M; Matěj, Radoslav R; Rohan, Zdenek Z; De Deyn, Peter P; Engelborghs, Sebastiaan S; Cras, Patrick P; Van Broeckhoven, Christine C; Sleegers, Kristel K; ,

Publication Date: 2017-09

Variant appearance in text: ABCA7: H395R; rs3764647

PubMed Link: 28447221

Variant Present in the following documents:

• 401_2017_1714_MOESM1_ESM.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3764647

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA7: H395R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: ABCA7: H395R; rs3764647

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCA7: H395R; rs3764647

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ABCA7: H395R; rs3764647

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Annals Of Human Genetics

Holton, Patrick P; Ryten, Mina M; Nalls, Michael M; Trabzuni, Daniah D; Weale, Michael E ME; Hernandez, Dena D; Crehan, Helen H; Gibbs, J Raphael JR; Mayeux, Richard R; Haines, Jonathan L JL; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; , ; Ramirez-Restrepo, Manuel M; Engel, Anzhelika A; Myers, Amanda J AJ; Corneveaux, Jason J JJ; Huentelman, Matthew J MJ; Dillman, Allissa A; Cookson, Mark R MR; Reiman, Eric M EM; Singleton, Andrew A; Hardy, John J; Guerreiro, Rita R

Publication Date: 2013-03

Variant appearance in text: ABCA7: His395Arg; rs3764647

PubMed Link: 23360175

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive genetic association study of Alzheimer disease in African Americans.

Archives Of Neurology

Logue, Mark W MW; Schu, Matthew M; Vardarajan, Badri N BN; Buros, Jacki J; Green, Robert C RC; Go, Rodney C P RC; Griffith, Patrick P; Obisesan, Thomas O TO; Shatz, Rhonna R; Borenstein, Amy A; Cupples, L Adrienne LA; Lunetta, Kathryn L KL; Fallin, M Daniele MD; Baldwin, Clinton T CT; Farrer, Lindsay A LA; ,

Publication Date: 2011-12

Variant appearance in text: rs3764647

PubMed Link: 22159054

Variant Present in the following documents:

• Main text

View BVdb publication page

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