Publications:

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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.

Journal Of Clinical Medicine

Barbosa-Gouveia, Sofía S; Fernández-Crespo, Silvia S; Lazaré-Iglesias, Héctor H; González-Quintela, Arturo A; Vázquez-Agra, Néstor N; Hermida-Ameijeiras, Álvaro Á

Publication Date: 2023-03-30

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 37048678

Variant Present in the following documents:

• jcm-12-02596.pdf

View BVdb publication page

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Visceral adipose tissue is an independent predictor and mediator of the progression of coronary calcification: a prospective sub-analysis of the GEA study.

Cardiovascular Diabetology

Antonio-Villa, Neftali Eduardo NE; Juárez-Rojas, Juan Gabriel JG; Posadas-Sánchez, Rosalinda R; Reyes-Barrera, Juan J; Medina-Urrutia, Aida A

Publication Date: 2023-04-03

Variant appearance in text: ABCA1: R230C

PubMed Link: 37013573

Variant Present in the following documents:

• 12933_2023_Article_1807.pdf

View BVdb publication page

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Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals.

Frontiers In Genetics

Juárez-Luis, Jesús J; Canseco-Ocaña, Moisés M; Cid-Soto, Miguel Angel MA; Castro-Martínez, Xochitl H XH; Martínez-Hernández, Angélica A; Orozco, Lorena L; Hernández-Zavala, Araceli A; Córdova, Emilio J EJ

Publication Date: 2023

Variant appearance in text: ABCA1: R230C

PubMed Link: 36968598

Variant Present in the following documents:

• fgene-14-1022912.pdf

View BVdb publication page

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Interaction between SIDT2 and ABCA1 Variants with Nutrients on HDL-c Levels in Mexican Adults.

Nutrients

León-Reyes, Guadalupe G; Argoty-Pantoja, Anna D AD; Rivera-Paredez, Berenice B; Hidalgo-Bravo, Alberto A; Flores, Yvonne N YN; Salmerón, Jorge J; Velázquez-Cruz, Rafael R

Publication Date: 2023-01-11

Variant appearance in text: rs9282541

PubMed Link: 36678241

Variant Present in the following documents:

• Main text
• nutrients-15-00370.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs9282541

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Effect of the Melanocortin 4-Receptor Ile269Asn Mutation on Weight Loss Response to Dietary, Phentermine and Bariatric Surgery Interventions.

Genes

Salazar-Valencia, Itzel G IG; Villamil-Ramírez, Hugo H; Barajas-Olmos, Francisco F; Guevara-Cruz, Martha M; Macias-Kauffer, Luis R LR; García-Ortiz, Humberto H; Hernández-Vergara, Omar O; Díaz de Sandy-Galán, David Alberto DA; León-Mimila, Paola P; Centeno-Cruz, Federico F; González-Salazar, Luis E LE; Guizar-Heredia, Rocío R; Pichardo-Ontiveros, Edgar E; Jacobo-Albavera, Leonor L; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Velazquez-Cruz, Rafael R; Gutiérrez-Aguilar, Ruth R; Zerrweck, Carlos C; Rocha-González, Héctor Isaac HI; Reyes-García, Juan Gerardo JG; Carrasco-Portugal, Miriam Del C MDC; Flores-Murrieta, Francisco Javier FJ; Tovar, Armando R AR; Orozco, Lorena L; Villarreal-Molina, Teresa T; Canizales-Quinteros, Samuel S

Publication Date: 2022-12-01

Variant appearance in text: ABCA1: R230C

PubMed Link: 36553534

Variant Present in the following documents:

• genes-13-02267.pdf

View BVdb publication page

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Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess.

Colombia Medica (Cali, Colombia)

Ruiz-Díaz, María Stephany MS; Mena-Yi, Diana D; Gómez-Camargo, Doris D; Mora-García, Gustavo G

Publication Date: 2022

Variant appearance in text: rs9282541

PubMed Link: 36415696

Variant Present in the following documents:

• 1657-9534-cm-53-02-e2044874.pdf

View BVdb publication page

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Increased Carotid Intima-Media Thickness in Asymptomatic Individuals Is Associated with the PCSK9 (rs2149041) Gene Polymorphism in the Mexican Mestizo Population: Results of the GEA Cohort.

Life (Basel, Switzerland)

Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Pérez-Méndez, Óscar Ó; Pérez-Hernández, Nonanzit N; Rodríguez-Pérez, José Manuel JM

Publication Date: 2022-09-30

Variant appearance in text: ABCA1: R230C

PubMed Link: 36294964

Variant Present in the following documents:

• life-12-01531.pdf

View BVdb publication page

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Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Diabetology & Metabolic Syndrome

Lee, Sanghoo S; Kim, Seol-A SA; Hong, Jeonghoon J; Kim, Yejin Y; Hong, Gayeon G; Baik, SaeYun S; Choi, Kyeonghwan K; Lee, Mi-Kyeong MK; Lee, Kyoung-Ryul KR

Publication Date: 2022-08-23

Variant appearance in text: ABCA1: Arg230Cys; rs9282541

PubMed Link: 35999587

Variant Present in the following documents:

• Main text
• 13098_2022_Article_893.pdf

View BVdb publication page

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Osteoprotegerin Gene Polymorphisms Are Associated with Subclinical Atherosclerosis in the Mexican Mestizo Population.

Diagnostics (Basel, Switzerland)

Cazarín-Santos, Benny Giovanni BG; Pérez-Hernández, Nonanzit N; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Pérez-Méndez, Óscar Ó; Rodríguez-Silverio, Juan J; Roque-Ramírez, Bladimir B; Borgonio-Cuadra, Verónica Marusa VM; Rodríguez-Pérez, José Manuel JM

Publication Date: 2022-06-10

Variant appearance in text: ABCA1: R230C

PubMed Link: 35741244

Variant Present in the following documents:

• diagnostics-12-01433.pdf

View BVdb publication page

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Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.

Frontiers In Genetics

Jurado-Camacho, Pedro A PA; Cid-Soto, Miguel A MA; Barajas-Olmos, Francisco F; García-Ortíz, Humberto H; Baca-Peynado, Paulina P; Martínez-Hernández, Angélica A; Centeno-Cruz, Federico F; Contreras-Cubas, Cecilia C; González-Villalpando, María Elena ME; Saldaña-Álvarez, Yolanda Y; Salas-Martinez, Guadalupe G; Mendoza-Caamal, Elvia C EC; González-Villalpando, Clicerio C; Córdova, Emilio J EJ; Orozco, Lorena L

Publication Date: 2022

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 35669185

Variant Present in the following documents:

• Main text
• fgene-13-807381.pdf

View BVdb publication page

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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: R230C

PubMed Link: 35530134

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Disentangling Signatures of Selection Before and After European Colonization in Latin Americans.

Molecular Biology And Evolution

Mendoza-Revilla, Javier J; Chacón-Duque, J Camilo JC; Fuentes-Guajardo, Macarena M; Ormond, Louise L; Wang, Ke K; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Barquera, Rodrigo R; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Badillo Rivera, Keyla M KM; Nieves-Colón, Maria A MA; Gignoux, Christopher R CR; Wojcik, Genevieve L GL; Moreno-Estrada, Andrés A; Hünemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Balding, David D; Fumagalli, Matteo M; Adhikari, Kaustubh K; Ruiz-Linares, Andrés A; Hellenthal, Garrett G

Publication Date: 2022-04-11

Variant appearance in text: ABCA1: R230C

PubMed Link: 35460423

Variant Present in the following documents:

• msac076.pdf

View BVdb publication page

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Monocyte miRNAs Are Associated With Type 2 Diabetes.

Diabetes

Parker, Daniel C DC; Wan, Ma M; Lohman, Kurt K; Hou, Li L; Nguyen, Anh Tram AT; Ding, Jingzhong J; Bertoni, Alain A; Shea, Steve S; Burke, Gregory L GL; Jacobs, David R DR; Post, Wendy W; Corcoran, David D; Hoeschele, Ina I; Parks, John S JS; Liu, Yongmei Y

Publication Date: 2022-04-01

Variant appearance in text: ABCA1: R230C

PubMed Link: 35073575

Variant Present in the following documents:

• db210704.pdf

View BVdb publication page

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Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Journal Of Cardiovascular Development And Disease

Rozhkova, Alexandra V AV; Dmitrieva, Veronika G VG; Nosova, Elena V EV; Dergunov, Alexander D AD; Limborska, Svetlana A SA; Dergunova, Liudmila V LV

Publication Date: 2021-12-02

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 34940525

Variant Present in the following documents:

• Main text
• jcdd-08-00170.pdf

View BVdb publication page

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Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Journal Of Cardiovascular Development And Disease

Rozhkova, Alexandra V AV; Dmitrieva, Veronika G VG; Nosova, Elena V EV; Dergunov, Alexander D AD; Limborska, Svetlana A SA; Dergunova, Liudmila V LV

Publication Date: 2021-12-02

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 34940525

Variant Present in the following documents:

• Main text
• jcdd-08-00170.pdf

View BVdb publication page

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Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis.

Journal Of Personalized Medicine

Shim, Sun-Young SY; Yoon, Ha-Young HY; Yee, Jeong J; Han, Ji-Min JM; Gwak, Hye-Sun HS

Publication Date: 2021-09-03

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 34575660

Variant Present in the following documents:

• jpm-11-00883.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: rs9282541

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Divalent Metal Transporter 1 Knock-Down Modulates IL-1β Mediated Pancreatic Beta-Cell Pro-Apoptotic Signaling Pathways through the Autophagic Machinery.

International Journal Of Molecular Sciences

Kang, Taewook T; Huang, Honggang H; Mandrup-Poulsen, Thomas T; Larsen, Martin R MR

Publication Date: 2021-07-27

Variant appearance in text: rs9282541

PubMed Link: 34360779

Variant Present in the following documents:

• Main text
• ijms-22-08013.pdf

View BVdb publication page

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Association of the IL-37 Polymorphisms with Transaminases and Alkaline Phosphatase Levels in Premature Coronary Artery Disease Patients and Healthy Controls. Results of the Genetics of Atherosclerotic (GEA) Mexican Study.

Diagnostics (Basel, Switzerland)

López-Bautista, Fabiola F; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G

Publication Date: 2021-06-02

Variant appearance in text: ABCA1: R230C

PubMed Link: 34199391

Variant Present in the following documents:

• diagnostics-11-01018.pdf

View BVdb publication page

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New insights into renal lipid dysmetabolism in diabetic kidney disease.

World Journal Of Diabetes

Mitrofanova, Alla A; Burke, George G; Merscher, Sandra S; Fornoni, Alessia A

Publication Date: 2021-05-15

Variant appearance in text: rs9282541

PubMed Link: 33995842

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dipeptidylpeptidase-4 levels and DPP4 gene polymorphisms in patients with COVID-19. Association with disease and with severity.

Life Sciences

Posadas-Sánchez, Rosalinda R; Sánchez-Muñoz, Fausto F; Guzmán-Martín, Carlos Alfonso CA; Hernández-Díaz Couder, Adrian A; Rojas-Velasco, Gustavo G; Fragoso, José Manuel JM; Vargas-Alarcón, Gilberto G

Publication Date: 2021-07-01

Variant appearance in text: ABCA1: R230C

PubMed Link: 33774023

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Dysfunctional adiposity index as a marker of adipose tissue morpho-functional abnormalities and metabolic disorders in apparently healthy subjects.

Adipocyte

Reyes-Barrera, Juan J; Sainz-Escárrega, Victor H VH; Medina-Urritia, Aida X AX; Jorge-Galarza, Esteban E; Osorio-Alonso, Horacio H; Torres-Tamayo, Margarita M; Leal-Escobar, Gabriela G; Posadas-Romero, Carlos C; Torre-Villalvazo, Ivan I; Juárez-Rojas, Juan G JG

Publication Date: 2021-12

Variant appearance in text: ABCA1: R230C

PubMed Link: 33722154

Variant Present in the following documents:

• KADI_10_1893452.pdf

View BVdb publication page

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Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Nutrients

Abdullah, Mohammad M H MMH; Vazquez-Vidal, Itzel I; Baer, David J DJ; House, James D JD; Jones, Peter J H PJH; Desmarchelier, Charles C

Publication Date: 2021-02-22

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 33671529

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R230C; rs9282541

PubMed Link: 33562440

Variant Present in the following documents:

• Main text
• ijms-22-01593.pdf

View BVdb publication page

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Association between LXR-α and ABCA1 Gene Polymorphisms and the Risk of Diabetic Kidney Disease in Patients with Type 2 Diabetes Mellitus in a Chinese Han Population.

Journal Of Diabetes Research

Liu, Peng P; Ma, Liang L; Zhao, Hailing H; Shen, Zhengri Z; Zhou, Xuefeng X; Yan, Meihua M; Zhao, Tingting T; Zhang, Haojun H; Qiu, Xinping X; Li, Ping P

Publication Date: 2020

Variant appearance in text: ABCA1: R230C

PubMed Link: 33426085

Variant Present in the following documents:

• JDR2020-8721536.pdf

View BVdb publication page

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[Síndrome metabólico, lipoproteína(a) y aterosclerosis subclínica en población mexicana].

Archivos De Cardiologia De Mexico

Cardoso-Saldaña, Guillermo C GC; González-Salazar, María Del C MDC; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G

Publication Date: 2020-12-01

Variant appearance in text: ABCA1: R230C

PubMed Link: 33268905

Variant Present in the following documents:

• ACM-91-307.pdf

View BVdb publication page

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Impact of type 2 diabetes variants identified through genome-wide association studies in early-onset type 2 diabetes from South Indian population.

Genomics & Informatics

Liju, Samuel S; Chidambaram, Manickam M; Mohan, Viswanathan V; Radha, Venkatesan V

Publication Date: 2020-09

Variant appearance in text: ABCA1: R230C

PubMed Link: 33017871

Variant Present in the following documents:

• gi-2020-18-3-e27.pdf

View BVdb publication page

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Association between ABC family variants rs1800977, rs4149313, and rs1128503 and susceptibility to type 2 diabetes in a Chinese Han population.

The Journal Of International Medical Research

Yan, Ruicheng R; Luo, Jianfei J; He, Xiaobo X; Li, Shijun S

Publication Date: 2020-08

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 32762489

Variant Present in the following documents:

• Main text

View BVdb publication page

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Is it possible ABC transporters genetic variants influence the outcomes of a weight-loss diet in obese women?

Genetics And Molecular Biology

Teixeira, Mayza Dalcin MD; Tureck, Luciane Viater LV; Nascimento, Gabrielle Araujo do GAD; Souza, Ricardo Lehtonen Rodrigues de RLR; Furtado-Alle, Lupe L

Publication Date: 2020-07-31

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 32745159

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-43-3-e20190326.pdf

View BVdb publication page

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Model of genetic and environmental factors associated with type 2 diabetes mellitus in a Chinese Han population.

Bmc Public Health

Li, Zheng Z; Ye, Cheng-Yin CY; Zhao, Tian-Yu TY; Yang, Lei L

Publication Date: 2020-06-29

Variant appearance in text: ABCA1: R230C

PubMed Link: 32600448

Variant Present in the following documents:

• Main text
• 12889_2020_Article_9130.pdf

View BVdb publication page

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Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics

Hu, Yao Y; Graff, Mariaelisa M; Haessler, Jeffrey J; Buyske, Steven S; Bien, Stephanie A SA; Tao, Ran R; Highland, Heather M HM; Nishimura, Katherine K KK; Zubair, Niha N; Lu, Yingchang Y; Verbanck, Marie M; Hilliard, Austin T AT; Klarin, Derek D; Damrauer, Scott M SM; Ho, Yuk-Lam YL; , ; Wilson, Peter W F PWF; Chang, Kyong-Mi KM; Tsao, Philip S PS; Cho, Kelly K; O'Donnell, Christopher J CJ; Assimes, Themistocles L TL; Petty, Lauren E LE; Below, Jennifer E JE; Dikilitas, Ozan O; Schaid, Daniel J DJ; Kosel, Matthew L ML; Kullo, Iftikhar J IJ; Rasmussen-Torvik, Laura J LJ; Jarvik, Gail P GP; Feng, Qiping Q; Wei, Wei-Qi WQ; Larson, Eric B EB; Mentch, Frank D FD; Almoguera, Berta B; Sleiman, Patrick M PM; Raffield, Laura M LM; Correa, Adolfo A; Martin, Lisa W LW; Daviglus, Martha M; Matise, Tara C TC; Ambite, Jose Luis JL; Carlson, Christopher S CS; Do, Ron R; Loos, Ruth J F RJF; Wilkens, Lynne R LR; Le Marchand, Loic L; Haiman, Chris C; Stram, Daniel O DO; Hindorff, Lucia A LA; North, Kari E KE; Kooperberg, Charles C; Cheng, Iona I; Peters, Ulrike U

Publication Date: 2020-03

Variant appearance in text: rs9282541

PubMed Link: 32226016

Variant Present in the following documents:

• Main text
• pgen.1008684.pdf

View BVdb publication page

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Metabolic syndrome in indigenous communities in Mexico: a descriptive and cross-sectional study.

Bmc Public Health

Mendoza-Caamal, Elvia Cristina EC; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Cicerón-Arellano, Isabel I; Martínez-Hernández, Angélica A; Córdova, Emilio J EJ; Esparza-Aguilar, Marcelino M; Contreras-Cubas, Cecilia C; Centeno-Cruz, Federico F; Cid-Soto, Miguel M; Morales-Marín, Mirna Edith ME; Reséndiz-Rodríguez, Adriana A; Jiménez-Ruiz, Juan Luis JL; Salas-Martínez, María Guadalupe MG; Saldaña-Alvarez, Yolanda Y; Mirzaeicheshmeh, Elaheh E; Rojas-Martínez, María Rosalba MR; Orozco, Lorena L

Publication Date: 2020-03-17

Variant appearance in text: ABCA1: R230C

PubMed Link: 32183766

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Regionalized Genome-Based Mexican Diet Improves Anthropometric and Metabolic Parameters in Subjects at Risk for Obesity-Related Chronic Diseases.

Nutrients

Ojeda-Granados, Claudia C; Panduro, Arturo A; Rivera-Iñiguez, Ingrid I; Sepúlveda-Villegas, Maricruz M; Roman, Sonia S

Publication Date: 2020-02-28

Variant appearance in text: ABCA1: R230C

PubMed Link: 32121184

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 688C>T; Arg230Cys

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

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Contribution of Known Genetic Risk Variants to Dyslipidemias and Type 2 Diabetes in Mexico: A Population-Based Nationwide Study.

Genes

Huerta-Chagoya, Alicia A; Moreno-Macías, Hortensia H; Sevilla-González, Magdalena M; Rodríguez-Guillén, Rosario R; Ordóñez-Sánchez, María L ML; Gómez-Velasco, Donají D; Muñóz-Hernández, Liliana L; Segura-Kato, Yayoi Y; Arellano-Campos, Olimpia O; Cruz-Bautista, Ivette I; Aguilar-Salinas, Carlos A CA; Tusié-Luna, Teresa T

Publication Date: 2020-01-20

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 31968565

Variant Present in the following documents:

• Main text
• genes-11-00114.pdf

View BVdb publication page

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Improvement of Lipoprotein Profile and Metabolic Endotoxemia by a Lifestyle Intervention That Modifies the Gut Microbiota in Subjects With Metabolic Syndrome.

Journal Of The American Heart Association

Guevara-Cruz, Martha M; Flores-López, Adriana G AG; Aguilar-López, Miriam M; Sánchez-Tapia, Mónica M; Medina-Vera, Isabel I; Díaz, Daniel D; Tovar, Armando R AR; Torres, Nimbe N

Publication Date: 2019-09-03

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 31451009

Variant Present in the following documents:

• Main text
• JAH3-8-e012401.pdf

View BVdb publication page

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: ABCA1: 688C>T; Arg230Cys; rs9282541

PubMed Link: 31397093

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in Adipokines in Mexican Children with Obesity.

International Journal Of Endocrinology

Jiménez-Osorio, Angélica Saraí AS; Aguilar-Lucio, Alma Olivia AO; Cárdenas-Hernández, Helios H; Musalem-Younes, Claudette C; Solares-Tlapechco, Jacqueline J; Costa-Urrutia, Paula P; Medina-Contreras, Oscar O; Granados, Julio J; Rodríguez-Arellano, Martha Eunice ME

Publication Date: 2019

Variant appearance in text: rs9282541

PubMed Link: 31354816

Variant Present in the following documents:

• Main text
• IJE2019-4764751.pdf

View BVdb publication page

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ATP-binding cassette sub-family a member1 gene mutation improves lipid metabolic abnormalities in diabetes mellitus.

Lipids In Health And Disease

Yan, Huili H; Cheng, Lei L; Jia, Ruoshuang R; Yao, Huiqian H; Wu, Hongxia H; Shen, Yaqian Y; Zhang, Ying Y; Hao, Panpan P; Zhang, Zhongwen Z

Publication Date: 2019-04-22

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 31010439

Variant Present in the following documents:

• Main text
• 12944_2019_Article_998.pdf

View BVdb publication page

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ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.

Journal Of Clinical Laboratory Analysis

Wang, Fangfang F; Ji, Yuan Y; Chen, Xin X; Song, Ying Y; Huang, Shenglan S; Zhou, Changle C; Huang, Changgen C; Chen, Zengguang Z; Zhang, Liangfeng L; Ge, Jiyong J

Publication Date: 2019-07

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 31006134

Variant Present in the following documents:

• Main text

View BVdb publication page

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A haplotype of the phosphodiesterase 4D (PDE4D) gene is associated with myocardial infarction and with cardiometabolic parameters: the GEA study.

Excli Journal

Rodríguez-Pérez, José Manuel JM; Posadas-Sánchez, Rosalinda R; Blachman-Braun, Ruben R; Vargas-Alarcón, Gilberto G; Posadas-Romero, Carlos C; García-Flores, Esbeidy E; López-Bautista, Fabiola F; Tovilla-Zárate, Carlos Alfonso CA; González-Castro, Thelma Beatriz TB; Borgonio-Cuadra, Verónica Marusa VM; Pérez-Hernández, Nonanzit N

Publication Date: 2018

Variant appearance in text: ABCA1: R230C

PubMed Link: 30713479

Variant Present in the following documents:

• EXCLI-17-1182.pdf

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A Guide to Applying the Sex-Gender Perspective to Nutritional Genomics.

Nutrients

Corella, Dolores D; Coltell, Oscar O; Portolés, Olga O; Sotos-Prieto, Mercedes M; Fernández-Carrión, Rebeca R; Ramirez-Sabio, Judith B JB; Zanón-Moreno, Vicente V; Mattei, Josiemer J; Sorlí, José V JV; Ordovas, Jose M JM

Publication Date: 2018-12-20

Variant appearance in text: ABCA1: R230C

PubMed Link: 30577445

Variant Present in the following documents:

• nutrients-11-00004.pdf

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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: R230C; rs9282541

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

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Nutrigenetic Contributions to Dyslipidemia: A Focus on Physiologically Relevant Pathways of Lipid and Lipoprotein Metabolism.

Nutrients

Hannon, Bridget A BA; Khan, Naiman A NA; Teran-Garcia, Margarita M

Publication Date: 2018-10-02

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 30279335

Variant Present in the following documents:

• Main text

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: ABCA1: R230C

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1

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Relationship between ABCA1 gene polymorphism and lacunar infarction combined with arteriosclerosis in patients.

Experimental And Therapeutic Medicine

Xu, Yao Y; Li, Zhenqiang Z

Publication Date: 2018-08

Variant appearance in text: rs9282541

PubMed Link: 30112062

Variant Present in the following documents:

• etm-16-02-1323.pdf

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The UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms are associated with premature coronary artery disease and cardiovascular risk factors in Mexican population.

Genetics And Molecular Biology

Gamboa, Ricardo R; Huesca-Gómez, Claudia C; López-Pérez, Vanessa V; Posadas-Sánchez, Rosalinda R; Cardoso-Saldaña, Guillermo G; Medina-Urrutia, Aida A; Juárez-Rojas, Juan Gabriel JG; Soto, María Elena ME; Posadas-Romero, Carlos C; Vargas-Alarcón, Gilberto G

Publication Date: 2018

Variant appearance in text: ABCA1: R230C

PubMed Link: 29786102

Variant Present in the following documents:

• 1415-4757-gmb-1678-4685-GMB-2017-0008.pdf

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The involvement of purinergic signalling in obesity.

Purinergic Signalling

Burnstock, Geoffrey G; Gentile, Daniela D

Publication Date: 2018-06

Variant appearance in text: ABCA1: R230C

PubMed Link: 29619754

Variant Present in the following documents:

• Main text
• 11302_2018_Article_9605.pdf

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Tailoring Nutritional Advice for Mexicans Based on Prevalence Profiles of Diet-Related Adaptive Gene Polymorphisms.

Journal Of Personalized Medicine

Ojeda-Granados, Claudia C; Panduro, Arturo A; Gonzalez-Aldaco, Karina K; Sepulveda-Villegas, Maricruz M; Rivera-Iñiguez, Ingrid I; Roman, Sonia S

Publication Date: 2017-11-10

Variant appearance in text: ABCA1: Arg230Cys; rs9282541

PubMed Link: 29125573

Variant Present in the following documents:

• Main text
• jpm-07-00016-s001.pdf
• jpm-07-00016.pdf

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The role and function of HDL in patients with diabetes mellitus and the related cardiovascular risk.

Lipids In Health And Disease

Femlak, Marek M; Gluba-Brzózka, Anna A; Ciałkowska-Rysz, Aleksandra A; Rysz, Jacek J

Publication Date: 2017-10-30

Variant appearance in text: ABCA1: R230C

PubMed Link: 29084567

Variant Present in the following documents:

• Main text

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Genetic architecture of lipid traits in the Hispanic community health study/study of Latinos.

Lipids In Health And Disease

Graff, Mariaelisa M; Emery, Leslie S LS; Justice, Anne E AE; Parra, Esteban E; Below, Jennifer E JE; Palmer, Nicholette D ND; Gao, Chuan C; Duan, Qing Q; Valladares-Salgado, Adan A; Cruz, Miguel M; Morrison, Alanna C AC; Boerwinkle, Eric E; Whitsel, Eric A EA; Kooperberg, Charles C; Reiner, Alex A; Li, Yun Y; Rodriguez, Carlos Jose CJ; Talavera, Gregory A GA; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Norris, Jill M JM; Taylor, Kent D KD; Papanicolaou, George G; Kenny, Eimear E; Loos, Ruth J F RJF; Chen, Yii-Der Ida YI; Laurie, Cathy C; Sofer, Tamar T; North, Kari E KE

Publication Date: 2017-10-12

Variant appearance in text: rs9282541

PubMed Link: 29025430

Variant Present in the following documents:

• Main text

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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: 688C>T; R230C

PubMed Link: 28870971

Variant Present in the following documents:

• 10.1194_M079822_jlr.M079822-1.pdf

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Genetic Epidemiology of Type 2 Diabetes in Mexican Mestizos.

Biomed Research International

García-Chapa, Eiralí Guadalupe EG; Leal-Ugarte, Evelia E; Peralta-Leal, Valeria V; Durán-González, Jorge J; Meza-Espinoza, Juan Pablo JP

Publication Date: 2017

Variant appearance in text: rs9282541

PubMed Link: 28607931

Variant Present in the following documents:

• Main text

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Association of Irisin Plasma Levels with Anthropometric Parameters in Children with Underweight, Normal Weight, Overweight, and Obesity.

Biomed Research International

Elizondo-Montemayor, Leticia L; Silva-Platas, Christian C; Torres-Quintanilla, Alejandro A; Rodríguez-López, Carlos C; Ruiz-Esparza, Guillermo U GU; Reyes-Mendoza, Eric E; Garcia-Rivas, Gerardo G

Publication Date: 2017

Variant appearance in text: ABCA1: R230C

PubMed Link: 28553647

Variant Present in the following documents:

• Main text

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Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population.

Bmc Medical Genetics

Villalobos-Comparán, Marisela M; Antuna-Puente, Bárbara B; Villarreal-Molina, María Teresa MT; Canizales-Quinteros, Samuel S; Velázquez-Cruz, Rafael R; León-Mimila, Paola P; Villamil-Ramírez, Hugo H; González-Barrios, Juan Antonio JA; Merino-García, José Luis JL; Thompson-Bonilla, María Rocío MR; Jarquin, Diego D; Sánchez-Hernández, Osvaldo Erik OE; Rodríguez-Arellano, Martha Eunice ME; Posadas-Romero, Carlos C; Vargas-Alarcón, Gilberto G; Campos-Pérez, Francisco F; Quiterio, Manuel M; Salmerón-Castro, Jorge J; Carnevale, Alessandra A; Romero-Hidalgo, Sandra S

Publication Date: 2017-05-02

Variant appearance in text: ABCA1: R230C; rs9282541

PubMed Link: 28464932

Variant Present in the following documents:

• Main text
• 12881_2017_Article_410.pdf

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Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes.

Molecular Genetics & Genomic Medicine

Magaña-Cerino, Jesús Miguel JM; Luna-Arias, Juan P JP; Labra-Barrios, María Luisa ML; Avendaño-Borromeo, Bartolo B; Boldo-León, Xavier Miguel XM; Martínez-López, Mirian Carolina MC

Publication Date: 2017-01

Variant appearance in text: ABCA1: R230C

PubMed Link: 28116330

Variant Present in the following documents:

• Main text

View BVdb publication page

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