Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ABCA1: 5398A>C; Asn1800His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Nature Genetics

Holstege, Henne H; Hulsman, Marc M; Charbonnier, Camille C; Grenier-Boley, Benjamin B; Quenez, Olivier O; Grozeva, Detelina D; van Rooij, Jeroen G J JGJ; Sims, Rebecca R; Ahmad, Shahzad S; Amin, Najaf N; Norsworthy, Penny J PJ; Dols-Icardo, Oriol O; Hummerich, Holger H; Kawalia, Amit A; Amouyel, Philippe P; Beecham, Gary W GW; Berr, Claudine C; Bis, Joshua C JC; Boland, Anne A; Bossù, Paola P; Bouwman, Femke F; Bras, Jose J; Campion, Dominique D; Cochran, J Nicholas JN; Daniele, Antonio A; Dartigues, Jean-François JF; Debette, Stéphanie S; Deleuze, Jean-François JF; Denning, Nicola N; DeStefano, Anita L AL; Farrer, Lindsay A LA; Fernández, Maria Victoria MV; Fox, Nick C NC; Galimberti, Daniela D; Genin, Emmanuelle E; Gille, Johan J P JJP; Le Guen, Yann Y; Guerreiro, Rita R; Haines, Jonathan L JL; Holmes, Clive C; Ikram, M Arfan MA; Ikram, M Kamran MK; Jansen, Iris E IE; Kraaij, Robert R; Lathrop, Marc M; Lemstra, Afina W AW; Lleó, Alberto A; Luckcuck, Lauren L; Mannens, Marcel M A M MMAM; Marshall, Rachel R; Martin, Eden R ER; Masullo, Carlo C; Mayeux, Richard R; Mecocci, Patrizia P; Meggy, Alun A; Mol, Merel O MO; Morgan, Kevin K; Myers, Richard M RM; Nacmias, Benedetta B; Naj, Adam C AC; Napolioni, Valerio V; Pasquier, Florence F; Pastor, Pau P; Pericak-Vance, Margaret A MA; Raybould, Rachel R; Redon, Richard R; Reinders, Marcel J T MJT; Richard, Anne-Claire AC; Riedel-Heller, Steffi G SG; Rivadeneira, Fernando F; Rousseau, Stéphane S; Ryan, Natalie S NS; Saad, Salha S; Sanchez-Juan, Pascual P; Schellenberg, Gerard D GD; Scheltens, Philip P; Schott, Jonathan M JM; Seripa, Davide D; Seshadri, Sudha S; Sie, Daoud D; Sistermans, Erik A EA; Sorbi, Sandro S; van Spaendonk, Resie R; Spalletta, Gianfranco G; Tesi, Niccolo' N; Tijms, Betty B; Uitterlinden, André G AG; van der Lee, Sven J SJ; Visser, Pieter Jelle PJ; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Zarea, Aline A; Clarimon, Jordi J; van Swieten, John C JC; Greicius, Michael D MD; Yokoyama, Jennifer S JS; Cruchaga, Carlos C; Hardy, John J; Ramirez, Alfredo A; Mead, Simon S; van der Flier, Wiesje M WM; van Duijn, Cornelia M CM; Williams, Julie J; Nicolas, Gaël G; Bellenguez, Céline C; Lambert, Jean-Charles JC

Publication Date: 2022-12

Variant appearance in text: ABCA1: N1800H

PubMed Link: 36411364

Variant Present in the following documents:

• Main text
• 41588_2022_1208_MOESM1_ESM.pdf
• 41588_2022_Article_1208.pdf

View BVdb publication page

---

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: ABCA1: 5398A>C; Asn1800His; rs146292819

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

Role of ABCA1 in Cardiovascular Disease.

Journal Of Personalized Medicine

Wang, Jing J; Xiao, Qianqian Q; Wang, Luyun L; Wang, Yan Y; Wang, Daowen D; Ding, Hu H

Publication Date: 2022-06-20

Variant appearance in text: rs146292819

PubMed Link: 35743794

Variant Present in the following documents:

• Main text
• jpm-12-01010.pdf

View BVdb publication page

---

Remembering your A, B, C's: Alzheimer's disease and ABCA1.

Acta Pharmaceutica Sinica. B

Lewandowski, Cutler T CT; Laham, Megan S MS; Thatcher, Gregory R J GRJ

Publication Date: 2022-03

Variant appearance in text: ABCA1: N1800H

PubMed Link: 35530134

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.

Molecular Neurodegeneration

Bossaerts, Liene L; Cacace, Rita R; Van Broeckhoven, Christine C

Publication Date: 2022-04-27

Variant appearance in text: ABCA1: N1800H

PubMed Link: 35477481

Variant Present in the following documents:

• Main text
• 13024_2022_Article_536.pdf

View BVdb publication page

---

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: ABCA1: Asn1800His; rs146292819

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf
• main.pdf

View BVdb publication page

---

Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis.

Scientific Reports

Shi, Zhangyan Z; Tian, Yajie Y; Zhao, Ze Z; Wu, Yufei Y; Hu, Xiuxia X; Li, Junlin J; Chen, Qianliang Q; Wang, Yan Y; An, Caiyan C; Zhang, Kejin K

Publication Date: 2021-11-05

Variant appearance in text: rs146292819

PubMed Link: 34741058

Variant Present in the following documents:

• 41598_2021_Article_961.pdf

View BVdb publication page

---

Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis.

Scientific Reports

Shi, Zhangyan Z; Tian, Yajie Y; Zhao, Ze Z; Wu, Yufei Y; Hu, Xiuxia X; Li, Junlin J; Chen, Qianliang Q; Wang, Yan Y; An, Caiyan C; Zhang, Kejin K

Publication Date: 2021-11-05

Variant appearance in text: rs146292819

PubMed Link: 34741058

Variant Present in the following documents:

• 41598_2021_Article_961.pdf

View BVdb publication page

---

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics

Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2021

Variant appearance in text: ABCA1: 5398A>C; Asn1800His; rs146292819

PubMed Link: 34691145

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

---

Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs146292819

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 1

View BVdb publication page

---

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA1: 5398A>C; Asn1800His; rs146292819

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Apolipoprotein A1, the neglected relative of Apolipoprotein E and its potential role in Alzheimer's disease.

Neural Regeneration Research

Endres, Kristina K

Publication Date: 2021-11

Variant appearance in text: ABCA1: N1800H

PubMed Link: 33818485

Variant Present in the following documents:

• Main text
• NRR-16-2141.pdf

View BVdb publication page

---

Discovery of Nonlipogenic ABCA1 Inducing Compounds with Potential in Alzheimer's Disease and Type 2 Diabetes.

Acs Pharmacology & Translational Science

Ben Aissa, Manel M; Lewandowski, Cutler T CT; Ratia, Kiira M KM; Lee, Sue H SH; Layden, Brian T BT; LaDu, Mary Jo MJ; Thatcher, Gregory R J GRJ

Publication Date: 2021-02-12

Variant appearance in text: ABCA1: N1800H

PubMed Link: 33615168

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

International Journal Of Molecular Sciences

Jacobo-Albavera, Leonor L; Domínguez-Pérez, Mayra M; Medina-Leyte, Diana Jhoseline DJ; González-Garrido, Antonia A; Villarreal-Molina, Teresa T

Publication Date: 2021-02-05

Variant appearance in text: ABCA1: N1800H

PubMed Link: 33562440

Variant Present in the following documents:

• Main text
• ijms-22-01593.pdf

View BVdb publication page

---

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications

Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K

Publication Date: 2020-12-18

Variant appearance in text: ABCA1: N1800H; rs146292819

PubMed Link: 33339817

Variant Present in the following documents:

• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 12
• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies.

Journal Of Lipid And Atherosclerosis

Bu, So Young SY

Publication Date: 2019-09

Variant appearance in text: rs146292819

PubMed Link: 32821703

Variant Present in the following documents:

• Main text
• jla-8-132.pdf

View BVdb publication page

---

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: ABCA1: N1800H

PubMed Link: 32257549

Variant Present in the following documents:

• Main text
• ad-11-2-390.pdf

View BVdb publication page

---

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCA1: 5398A>C; Asn1800His

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ABCA1: 5398A>C; Asn1800His

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

---

Association of rs2230806 in ABCA1 with coronary artery disease: An updated meta-analysis based on 43 research studies.

Medicine

Fan, Qian Q; Zhu, Yanfang Y; Zhao, Fang F

Publication Date: 2020-01

Variant appearance in text: rs146292819

PubMed Link: 31977856

Variant Present in the following documents:

• Main text
• medi-99-e18662.pdf

View BVdb publication page

---

Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs146292819

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

---

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ABCA1: 5398A>C; Asn1800His; rs146292819

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: ABCA1: 5398A>C; Asn1800His

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

---

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research

Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ

Publication Date: 2018-12

Variant appearance in text: ABCA1: 5398A>C; N1800H

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs146292819

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics

Lu, Xiangfeng X; Peloso, Gina M GM; Liu, Dajiang J DJ; Wu, Ying Y; Zhang, He H; Zhou, Wei W; Li, Jun J; Tang, Clara Sze-Man CS; Dorajoo, Rajkumar R; Li, Huaixing H; Long, Jirong J; Guo, Xiuqing X; Xu, Ming M; Spracklen, Cassandra N CN; Chen, Yang Y; Liu, Xuezhen X; Zhang, Yan Y; Khor, Chiea Chuen CC; Liu, Jianjun J; Sun, Liang L; Wang, Laiyuan L; Gao, Yu-Tang YT; Hu, Yao Y; Yu, Kuai K; Wang, Yiqin Y; Cheung, Chloe Yu Yan CYY; Wang, Feijie F; Huang, Jianfeng J; Fan, Qiao Q; Cai, Qiuyin Q; Chen, Shufeng S; Shi, Jinxiu J; Yang, Xueli X; Zhao, Wanting W; Sheu, Wayne H-H WH; Cherny, Stacey Shawn SS; He, Meian M; Feranil, Alan B AB; Adair, Linda S LS; Gordon-Larsen, Penny P; Du, Shufa S; Varma, Rohit R; Chen, Yii-Der Ida YI; Shu, Xiao-Ou XO; Lam, Karen Siu Ling KSL; Wong, Tien Yin TY; Ganesh, Santhi K SK; Mo, Zengnan Z; Hveem, Kristian K; Fritsche, Lars G LG; Nielsen, Jonas Bille JB; Tse, Hung-Fat HF; Huo, Yong Y; Cheng, Ching-Yu CY; Chen, Y Eugene YE; Zheng, Wei W; Tai, E Shyong ES; Gao, Wei W; Lin, Xu X; Huang, Wei W; Abecasis, Goncalo G; , ; Kathiresan, Sekar S; Mohlke, Karen L KL; Wu, Tangchun T; Sham, Pak Chung PC; Gu, Dongfeng D; Willer, Cristen J CJ

Publication Date: 2017-12

Variant appearance in text: ABCA1: Asn1800His; rs146292819

PubMed Link: 29083407

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Journal Of Lipid Research

Dron, Jacqueline S JS; Wang, Jian J; Low-Kam, Cécile C; Khetarpal, Sumeet A SA; Robinson, John F JF; McIntyre, Adam D AD; Ban, Matthew R MR; Cao, Henian H; Rhainds, David D; Dubé, Marie-Pierre MP; Rader, Daniel J DJ; Lettre, Guillaume G; Tardif, Jean-Claude JC; Hegele, Robert A RA

Publication Date: 2017-11

Variant appearance in text: ABCA1: 5398A>C; N1800H

PubMed Link: 28870971

Variant Present in the following documents:

• 10.1194_M079822_jlr.M079822-1.pdf

View BVdb publication page

---

Liver X receptor agonist treatment significantly affects phenotype and transcriptome of APOE3 and APOE4 Abca1 haplo-deficient mice.

Plos One

Carter, Alexis Y AY; Letronne, Florent F; Fitz, Nicholas F NF; Mounier, Anais A; Wolfe, Cody M CM; Nam, Kyong Nyon KN; Reeves, Valerie L VL; Kamboh, Hafsa H; Lefterov, Iliya I; Koldamova, Radosveta R

Publication Date: 2017

Variant appearance in text: ABCA1: N1800H

PubMed Link: 28241068

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Apolipoprotein E metabolism and functions in brain and its role in Alzheimer's disease.

Current Opinion In Lipidology

Liao, Fan F; Yoon, Hyejin H; Kim, Jungsu J

Publication Date: 2017-02

Variant appearance in text: ABCA1: N1800H

PubMed Link: 27922847

Variant Present in the following documents:

• Main text
• colip-28-60.pdf

View BVdb publication page

---

Diagnosis and treatment of high density lipoprotein deficiency.

Progress In Cardiovascular Diseases

Schaefer, Ernst J EJ; Anthanont, Pimjai P; Diffenderfer, Margaret R MR; Polisecki, Eliana E; Asztalos, Bela F BF

Publication Date: 2016

Variant appearance in text: ABCA1: N1800H

PubMed Link: 27565770

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ABCA1: N1800H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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: ABCA1: N1800H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins.

Arteriosclerosis, Thrombosis, And Vascular Biology

Bochem, Andrea E AE; van der Valk, Fleur M FM; Tolani, Sonia S; Stroes, Erik S ES; Westerterp, Marit M; Tall, Alan R AR

Publication Date: 2015-07

Variant appearance in text: ABCA1: Asn1800his

PubMed Link: 26109739

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: ABCA1: N1800H

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

---

A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol

Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A

Publication Date: 2014

Variant appearance in text: ABCA1: N1800H

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

View BVdb publication page

---

ATP-binding cassette transporter A1: from metabolism to neurodegeneration.

Neurobiology Of Disease

Koldamova, Radosveta R; Fitz, Nicholas F NF; Lefterov, Iliya I

Publication Date: 2014-12

Variant appearance in text: ABCA1: N1800H

PubMed Link: 24844148

Variant Present in the following documents:

• Main text

View BVdb publication page

---

High-density lipoprotein metabolism, composition, function, and deficiency.

Current Opinion In Lipidology

Schaefer, Ernst J EJ; Anthanont, Pimjai P; Asztalos, Bela F BF

Publication Date: 2014-06

Variant appearance in text: ABCA1: N1800H

PubMed Link: 24785961

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ABCA1: N1800H

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---

Molecular mechanisms of disease-causing missense mutations.

Journal Of Molecular Biology

Stefl, Shannon S; Nishi, Hafumi H; Petukh, Marharyta M; Panchenko, Anna R AR; Alexov, Emil E

Publication Date: 2013-11-01

Variant appearance in text: ABCA1: N1800H

PubMed Link: 23871686

Variant Present in the following documents:

• Main text

View BVdb publication page

---

ABC transporter genes and risk of type 2 diabetes: a study of 40,000 individuals from the general population.

Diabetes Care

Schou, Jesper J; Tybjærg-Hansen, Anne A; Møller, Holger J HJ; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R

Publication Date: 2012-12

Variant appearance in text: ABCA1: N1800H

PubMed Link: 23139370

Variant Present in the following documents:

• Main text
• supp_dc12-0082v120082_DC120082SupplementaryData.pdf
• 2600.pdf

View BVdb publication page

---

Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate.

Journal Of Lipid Research

Sorrenson, Brie B; Suetani, Rachel J RJ; Williams, Michael J A MJ; Bickley, Vivienne M VM; George, Peter M PM; Jones, Gregory T GT; McCormick, Sally P A SP

Publication Date: 2013-01

Variant appearance in text: ABCA1: N1800H

PubMed Link: 23087442

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

Circulation. Cardiovascular Genetics

Reddy, M V Prasad Linga MV; Iatan, Iulia I; Weissglas-Volkov, Daphna D; Nikkola, Elina E; Haas, Blake E BE; Juvonen, Miina M; Ruel, Isabelle I; Ruel, Miina Juvonen Isabelle MJ; Sinsheimer, Janet S JS; Genest, Jacques J; Pajukanta, Päivi P

Publication Date: 2012-10-01

Variant appearance in text: ABCA1: N1800H

PubMed Link: 22923419

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The plasma concentration of HDL-associated apoM is influenced by LDL receptor-mediated clearance of apoB-containing particles.

Journal Of Lipid Research

Christoffersen, Christina C; Benn, Marianne M; Christensen, Pernille M PM; Gordts, Philip L S M PLSM; Roebroek, Anton J M AJM; Frikke-Schmidt, Ruth R; Tybjaerg-Hansen, Anne A; Dahlbäck, Björn B; Nielsen, Lars B LB

Publication Date: 2012-10

Variant appearance in text: ABCA1: N1800H

PubMed Link: 22826357

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

Plos Genetics

Brunham, Liam R LR; Singaraja, Roshni R RR; Pape, Terry D TD; Kejariwal, Anish A; Thomas, Paul D PD; Hayden, Michael R MR

Publication Date: 2005-12

Variant appearance in text: ABCA1: N1800H

PubMed Link: 16429166

Variant Present in the following documents:

• pgen.0010083.pdf

View BVdb publication page

---

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

The Journal Of Clinical Investigation

Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Jensen, Gorm B GB; Tybjaerg-Hansen, Anne A

Publication Date: 2004-11

Variant appearance in text: ABCA1: N1800H

PubMed Link: 15520867

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

The Journal Of Clinical Investigation

Pajukanta, Päivi P

Publication Date: 2004-11

Variant appearance in text: ABCA1: N1800H

PubMed Link: 15520856

Variant Present in the following documents:

• Main text

View BVdb publication page

---