Publications:

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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: 1759C>T; Arg587Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 1759C>T; Arg587Trp; rs2853574

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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ABCA1 is an extracellular phospholipid translocase.

Nature Communications

Segrest, Jere P JP; Tang, Chongren C; Song, Hyun D HD; Jones, Martin K MK; Davidson, W Sean WS; Aller, Stephen G SG; Heinecke, Jay W JW

Publication Date: 2022-08-16

Variant appearance in text: ABCA1: R587W

PubMed Link: 35974019

Variant Present in the following documents:

• Main text
• 41467_2022_Article_32437.pdf

View BVdb publication page

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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: ABCA1: R587W

PubMed Link: 35743794

Variant Present in the following documents:

• Main text
• jpm-12-01010.pdf

View BVdb publication page

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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: rs2853574

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
• cdr-3-959-SupplementaryMaterials.xlsx, sheet 1

View BVdb publication page

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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: 1759C>T; Arg587Trp; rs2853574

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1759C>T; R587W

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

View BVdb publication page

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Is ABCA1 a lipid transfer protein?

Journal Of Lipid Research

Phillips, Michael C MC

Publication Date: 2018-05

Variant appearance in text: ABCA1: R587W

PubMed Link: 29305383

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2853574

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ABCA1: 1759C>T; R587W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: rs2853574

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: ABCA1: R587W

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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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: Arg587Trp

PubMed Link: 26109739

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA1 and nascent HDL biogenesis.

Biofactors (Oxford, England)

Wang, Shuhui S; Smith, Jonathan D JD

Publication Date: 2014

Variant appearance in text: ABCA1: R587W

PubMed Link: 25359426

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ABCA1: R587W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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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: R587W

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

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ABCA1 mediates unfolding of apolipoprotein AI N terminus on the cell surface before lipidation and release of nascent high-density lipoprotein.

Arteriosclerosis, Thrombosis, And Vascular Biology

Wang, Shuhui S; Gulshan, Kailash K; Brubaker, Gregory G; Hazen, Stanley L SL; Smith, Jonathan D JD

Publication Date: 2013-06

Variant appearance in text: ABCA1: R587W

PubMed Link: 23559627

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protein kinase C controls vesicular transport and secretion of apolipoprotein E from primary human macrophages.

The Journal Of Biological Chemistry

Karunakaran, Denuja D; Kockx, Maaike M; Owen, Dylan M DM; Burnett, John R JR; Jessup, Wendy W; Kritharides, Leonard L

Publication Date: 2013-02-15

Variant appearance in text: ABCA1: 1759C>T; Arg587Trp

PubMed Link: 23288845

Variant Present in the following documents:

• Main text

View BVdb publication page

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Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction.

Diabetes Care

Vergeer, Menno M; Brunham, Liam R LR; Koetsveld, Joris J; Kruit, Janine K JK; Verchere, C Bruce CB; Kastelein, John J P JJ; Hayden, Michael R MR; Stroes, Erik S G ES

Publication Date: 2010-04

Variant appearance in text: ABCA1: R587W

PubMed Link: 20067955

Variant Present in the following documents:

• Main text
• zdc869.pdf

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ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation.

Journal Of Lipid Research

Vaughan, Ashley M AM; Tang, Chongren C; Oram, John F JF

Publication Date: 2009-02

Variant appearance in text: ABCA1: R587W

PubMed Link: 18776170

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R587W

PubMed Link: 16429166

Variant Present in the following documents:

• pgen.0010083.pdf

View BVdb publication page

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