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: 2804A>G; Asn935Ser

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: 2804A>G; Asn935Ser; rs28937313

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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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: N935S

PubMed Link: 35477481

Variant Present in the following documents:

• Main text
• 13024_2022_Article_536.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: rs28937313

PubMed Link: 34541464

Variant Present in the following documents:

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

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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: 2804A>G; Asn935Ser; rs28937313

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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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: ABCA1: 2804A>G; Asn935Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ABCA1: N935S; rs28937313

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer

Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA

Publication Date: 2018

Variant appearance in text: ABCA1: 2804A>G; N935S

PubMed Link: 30588243

Variant Present in the following documents:

• jcav09p4596s2.xlsx, sheet 1

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: rs28937313

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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Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.

Human Molecular Genetics

Molday, Laurie L LL; Wahl, Daniel D; Sarunic, Marinko V MV; Molday, Robert S RS

Publication Date: 2018-01-15

Variant appearance in text: ABCA1: Asn935Ser

PubMed Link: 29145636

Variant Present in the following documents:

• Main text

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: rs28937313

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: N935S

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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LXRs link metabolism to inflammation through Abca1-dependent regulation of membrane composition and TLR signaling.

Elife

Ito, Ayaka A; Hong, Cynthia C; Rong, Xin X; Zhu, Xuewei X; Tarling, Elizabeth J EJ; Hedde, Per Niklas PN; Gratton, Enrico E; Parks, John J; Tontonoz, Peter P

Publication Date: 2015-07-14

Variant appearance in text: ABCA1: N935S

PubMed Link: 26173179

Variant Present in the following documents:

• Main text
• elife08009.pdf

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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: Asn935Ser

PubMed Link: 26109739

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: ABCA1: N935S

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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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: N935S

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

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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: N935S

PubMed Link: 24844148

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: N935S

PubMed Link: 24785961

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of cholesterol homeostasis in telomerase-immortalized Tangier disease fibroblasts reveals marked phenotype variability.

The Journal Of Biological Chemistry

Kannenberg, Frank F; Gorzelniak, Kerstin K; Jäger, Kathrin K; Fobker, Manfred M; Rust, Stephan S; Repa, Joyce J; Roth, Mike M; Björkhem, Ingemar I; Walter, Michael M

Publication Date: 2013-12-27

Variant appearance in text: ABCA1: N935S

PubMed Link: 24196952

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

The Journal Of Biological Chemistry

Quazi, Faraz F; Molday, Robert S RS

Publication Date: 2013-11-29

Variant appearance in text: ABCA1: N935S

PubMed Link: 24097981

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: ABCA1: N935S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport.

Biochimica Et Biophysica Acta

Coleman, Jonathan A JA; Quazi, Faraz F; Molday, Robert S RS

Publication Date: 2013-03

Variant appearance in text: ABCA1: N935S

PubMed Link: 23103747

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of ATP-binding cassette transporter A1 in Alzheimer's disease and neurodegeneration.

Biochimica Et Biophysica Acta

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

Publication Date: 2010-08

Variant appearance in text: ABCA1: N935S

PubMed Link: 20188211

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: N935S

PubMed Link: 16429166

Variant Present in the following documents:

• Main text
• pgen.0010083.pdf

View BVdb publication page

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