Publications:

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Destabilization of mutated human PUS3 protein causes intellectual disability.

Human Mutation

Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S

Publication Date: 2022-09-20

Variant appearance in text: ABCA1: 5774G>A; Arg1925Gln

PubMed Link: 36125428

Variant Present in the following documents:

• HUMU-43-2063-s002.xlsx, sheet 2

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: rs142688906

PubMed Link: 34541464

Variant Present in the following documents:

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

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: R1925Q

PubMed Link: 33562440

Variant Present in the following documents:

• Main text
• ijms-22-01593.pdf

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: 5774G>A; Arg1925Gln

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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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: 5774G>A; R1925Q

PubMed Link: 28870971

Variant Present in the following documents:

• 10.1194_M079822_jlr.M079822-1.pdf

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: rs142688906

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: R1925Q

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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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: R1925Q

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: ABCA1: R1925Q; rs142688906

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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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: 5774G>A; R1925Q; rs142688906

PubMed Link: 23139370

Variant Present in the following documents:

• supp_dc12-0082v120082_DC120082SupplementaryData.pdf

View BVdb publication page

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Inherited platelet disorders: thrombocytopenias and thrombocytopathies.

Blood Transfusion = Trasfusione Del Sangue

D'Andrea, Giovanna G; Chetta, Massimiliano M; Margaglione, Maurizio M

Publication Date: 2009-10

Variant appearance in text: ABCA1: R1925Q

PubMed Link: 20011639

Variant Present in the following documents:

• Main text

View BVdb publication page

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