Publications:

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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: 3272T>C; Met1091Thr

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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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: ABCA1: 3272T>C

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: ABCA1: M1091T

PubMed Link: 34541464

Variant Present in the following documents:

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

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: M1091T

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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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: M1091T

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.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: M1091T

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

View BVdb publication page

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Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society

Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A

Publication Date: 2010-11

Variant appearance in text: ABCA1: M1091T

PubMed Link: 20799350

Variant Present in the following documents:

• Main text

View BVdb publication page

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A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.

Human Molecular Genetics

Acuña-Alonzo, Víctor V; Flores-Dorantes, Teresa T; Kruit, Janine K JK; Villarreal-Molina, Teresa T; Arellano-Campos, Olimpia O; Hünemeier, Tábita T; Moreno-Estrada, Andrés A; Ortiz-López, Ma Guadalupe MG; Villamil-Ramírez, Hugo H; León-Mimila, Paola P; Villalobos-Comparan, Marisela M; Jacobo-Albavera, Leonor L; Ramírez-Jiménez, Salvador S; Sikora, Martin M; Zhang, Lin-Hua LH; Pape, Terry D TD; Granados-Silvestre, Ma de Angeles Mde A; Montufar-Robles, Isela I; Tito-Alvarez, Ana M AM; Zurita-Salinas, Camilo C; Bustos-Arriaga, José J; Cedillo-Barrón, Leticia L; Gómez-Trejo, Celta C; Barquera-Lozano, Rodrigo R; Vieira-Filho, Joao P JP; Granados, Julio J; Romero-Hidalgo, Sandra S; Huertas-Vázquez, Adriana A; González-Martín, Antonio A; Gorostiza, Amaya A; Bonatto, Sandro L SL; Rodríguez-Cruz, Maricela M; Wang, Li L; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Lisker, Ruben R; Moises, Regina S RS; Menjivar, Marta M; Salzano, Francisco M FM; Knowler, William C WC; Bortolini, M Cátira MC; Hayden, Michael R MR; Baier, Leslie J LJ; Canizales-Quinteros, Samuel S

Publication Date: 2010-07-15

Variant appearance in text: ABCA1: M1091T

PubMed Link: 20418488

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: M1091T

PubMed Link: 20067955

Variant Present in the following documents:

• Main text
• zdc869.pdf

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: M1091T

PubMed Link: 16429166

Variant Present in the following documents:

• Main text
• pgen.0010083.pdf

View BVdb publication page

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Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

The Journal Of Clinical Investigation

Clee, S M SM; Kastelein, J J JJ; van Dam, M M; Marcil, M M; Roomp, K K; Zwarts, K Y KY; Collins, J A JA; Roelants, R R; Tamasawa, N N; Stulc, T T; Suda, T T; Ceska, R R; Boucher, B B; Rondeau, C C; DeSouich, C C; Brooks-Wilson, A A; Molhuizen, H O HO; Frohlich, J J; Genest, J J; Hayden, M R MR

Publication Date: 2000-11

Variant appearance in text: ABCA1: M1091T

PubMed Link: 11086027

Variant Present in the following documents:

• Main text

View BVdb publication page

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