Variant ID: 19-45411987-G-A

NM_000041.2(APOE):c.434G>A;(p.G145D)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

International Journal Of Molecular Sciences
Abou Khalil, Yara Y; Marmontel, Oriane O; Ferrières, Jean J; Paillard, François F; Yelnik, Cécile C; Carreau, Valérie V; Charrière, Sybil S; Bruckert, Eric E; Gallo, Antonio A; Giral, Philippe P; Philippi, Anne A; Bluteau, Olivier O; Boileau, Catherine C; Abifadel, Marianne M; Di-Filippo, Mathilde M; Carrié, Alain A; Rabès, Jean-Pierre JP; Varret, Mathilde M
Publication Date: 2022-05-21

Variant appearance in text: APOE: 434G>A; Gly145Asp; rs267606664
PubMed Link: 35628605
Variant Present in the following documents:
  • Main text
  • ijms-23-05792.pdf
View BVdb publication page



Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype.

Frontiers In Cardiovascular Medicine
Limonova, Alena S AS; Ershova, Alexandra I AI; Meshkov, Alexey N AN; Kiseleva, Anna V AV; Divashuk, Mikhail G MG; Kutsenko, Vladimir A VA; Drapkina, Oxana M OM
Publication Date: 2020

Variant appearance in text: APOE: G145D; rs267606664
PubMed Link: 33537346
Variant Present in the following documents:
  • Main text
  • fcvm-07-585779.pdf
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: APOE: G145D
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx
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: 434G>A; Gly145Asp; rs267606664
PubMed Link: 32808727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severe Combined Dyslipidemia With a Complex Genetic Basis.

Journal Of Investigative Medicine High Impact Case Reports
Le, Ryan R; Abbas, Minan M; McIntyre, Adam D AD; Hegele, Robert A RA
Publication Date: 2019

Variant appearance in text: APOE: G145D
PubMed Link: 31538826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: APOE: Gly145Asp
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02

Variant appearance in text: APOE: G145D
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
View BVdb publication page