Publications:

---

Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Current Issues In Molecular Biology

Abondio, Paolo P; Bruno, Francesco F; Luiselli, Donata D

Publication Date: 2023-03-31

Variant appearance in text: rs199768005

PubMed Link: 37185708

Variant Present in the following documents:

• Main text
• cimb-45-00184.pdf

View BVdb publication page

---

Association of APOE (rs429358 and rs7412) and PON1 (Q192R and L55M) Variants with Myocardial Infarction in the Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Genes

Rahman, Naveed N; Zakiullah, ; Jan, Asif A; Saeed, Muhammad M; Khan, Muhammad Asghar MA; Parveen, Zahida Z; Iqbal, Javaid J; Ali, Sajid S; Shah, Waheed Ali WA; Akbar, Rani R; Khuda, Fazli F

Publication Date: 2023-03-10

Variant appearance in text: rs199768005

PubMed Link: 36980959

Variant Present in the following documents:

• genes-14-00687.pdf

View BVdb publication page

---

Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: APOE: Val254Glu; rs199768005

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

View BVdb publication page

---

SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: APOE: V254E

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: APOE: V254E; rs199768005

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

The Other Side of Alzheimer's Disease: Influence of Metabolic Disorder Features for Novel Diagnostic Biomarkers.

Journal Of Personalized Medicine

Argentati, Chiara C; Tortorella, Ilaria I; Bazzucchi, Martina M; Emiliani, Carla C; Morena, Francesco F; Martino, Sabata S

Publication Date: 2020-09-06

Variant appearance in text: rs199768005

PubMed Link: 32899957

Variant Present in the following documents:

• Main text
• jpm-10-00115.pdf

View BVdb publication page

---

APOE and dementia - resequencing and genotyping in 105,597 individuals.

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

Rasmussen, Katrine L KL; Tybjaerg-Hansen, Anne A; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R

Publication Date: 2020-12

Variant appearance in text: APOE: 761T>A; Val254Glu; rs199768005

PubMed Link: 32808727

Variant Present in the following documents:

• Main text
• ALZ-16-1624.pdf

View BVdb publication page

---

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: APOE: 761T>A; V254E

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

---

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

Npj Genomic Medicine

van Eyk, C L CL; Corbett, M A MA; Frank, M S B MSB; Webber, D L DL; Newman, M M; Berry, J G JG; Harper, K K; Haines, B P BP; McMichael, G G; Woenig, J A JA; MacLennan, A H AH; Gecz, J J

Publication Date: 2019

Variant appearance in text: APOE: 761T>A; V254E

PubMed Link: 31700678

Variant Present in the following documents:

• 41525_2019_101_MOESM1_ESM.pdf

View BVdb publication page

---

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs199768005

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3

View BVdb publication page

---

Identification of a Nuclear Respiratory Factor 1 Recognition Motif in the Apolipoprotein E Variant APOE4 linked to Alzheimer's Disease.

Scientific Reports

Urfer-Buchwalder, Anne A; Urfer, Roman R

Publication Date: 2017-01-17

Variant appearance in text: APOE: V254E; rs199768005

PubMed Link: 28094792

Variant Present in the following documents:

• Main text
• srep40668.pdf

View BVdb publication page

---

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: APOE: V254E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. whites and African blacks.

Plos One

Radwan, Zaheda H ZH; Wang, Xingbin X; Waqar, Fahad F; Pirim, Dilek D; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Bunker, Clareann H CH; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2014

Variant appearance in text: APOE: Val254Glu; rs199768005

PubMed Link: 25502880

Variant Present in the following documents:

• Main text
• pone.0114618.pdf

View BVdb publication page

---

Identification of rare variants in Alzheimer's disease.

Frontiers In Genetics

Lord, Jenny J; Lu, Alexander J AJ; Cruchaga, Carlos C

Publication Date: 2014

Variant appearance in text: rs199768005

PubMed Link: 25389433

Variant Present in the following documents:

• Main text
• fgene-05-00369.pdf

View BVdb publication page

---

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.

Molecular Neurodegeneration

Medway, Christopher W CW; Abdul-Hay, Samer S; Mims, Tynickwa T; Ma, Li L; Bisceglio, Gina G; Zou, Fanggeng F; Pankratz, Shane S; Sando, Sigrid B SB; Aasly, Jan O JO; Barcikowska, Maria M; Siuda, Joanna J; Wszolek, Zbigniew K ZK; Ross, Owen A OA; Carrasquillo, Minerva M; Dickson, Dennis W DW; Graff-Radford, Neill N; Petersen, Ronald C RC; Ertekin-Taner, Nilüfer N; Morgan, Kevin K; Bu, Guojun G; Younkin, Steven G SG

Publication Date: 2014-03-10

Variant appearance in text: rs199768005

PubMed Link: 24607147

Variant Present in the following documents:

• Main text
• 1750-1326-9-11.pdf

View BVdb publication page

---

A single zinc ion is sufficient for an active Trypanosoma brucei tRNA editing deaminase.

The Journal Of Biological Chemistry

Spears, Jessica L JL; Rubio, Mary Anne T MA; Gaston, Kirk W KW; Wywial, Ewa E; Strikoudis, Alexandros A; Bujnicki, Janusz M JM; Papavasiliou, F Nina FN; Alfonzo, Juan D JD

Publication Date: 2011-06-10

Variant appearance in text: AD2: V254E

PubMed Link: 21507956

Variant Present in the following documents:

• Main text

View BVdb publication page

---