ALDH1A2 c.*593C>G

Variant ID: 15-58246802-G-C

NM_003888.3(ALDH1A2):c.*593C>G

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Epigenetic Regulation in Knee Osteoarthritis.

Frontiers In Genetics
Cai, Zhengyu Z; Long, Teng T; Zhao, Yaochao Y; Lin, Ruixin R; Wang, You Y
Publication Date: 2022

Variant appearance in text: rs3204689
PubMed Link: 35873487
Variant Present in the following documents:
  • Main text
  • fgene-13-942982.pdf
View BVdb publication page



The Induced Pluripotent Stem Cells in Articular Cartilage Regeneration and Disease Modelling: Are We Ready for Their Clinical Use?

Cells
Lach, Michał S MS; Rosochowicz, Monika A MA; Richter, Magdalena M; Jagiełło, Inga I; Suchorska, Wiktoria M WM; Trzeciak, Tomasz T
Publication Date: 2022-02-03

Variant appearance in text: rs3204689
PubMed Link: 35159338
Variant Present in the following documents:
  • Main text
  • cells-11-00529.pdf
View BVdb publication page



The Induced Pluripotent Stem Cells in Articular Cartilage Regeneration and Disease Modelling: Are We Ready for Their Clinical Use?

Cells
Lach, Michał S MS; Rosochowicz, Monika A MA; Richter, Magdalena M; Jagiełło, Inga I; Suchorska, Wiktoria M WM; Trzeciak, Tomasz T
Publication Date: 2022-02-03

Variant appearance in text: rs3204689
PubMed Link: 35159338
Variant Present in the following documents:
  • Main text
  • cells-11-00529.pdf
View BVdb publication page



Genetics of osteoarthritis.

Osteoarthritis And Cartilage
Aubourg, G G; Rice, S J SJ; Bruce-Wootton, P P; Loughlin, J J
Publication Date: 2022-05

Variant appearance in text: rs3204689
PubMed Link: 33722698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.

Nature Communications
Jones, Garan G; Trajanoska, Katerina K; Santanasto, Adam J AJ; Stringa, Najada N; Kuo, Chia-Ling CL; Atkins, Janice L JL; Lewis, Joshua R JR; Duong, ThuyVy T; Hong, Shengjun S; Biggs, Mary L ML; Luan, Jian'an J; Sarnowski, Chloe C; Lunetta, Kathryn L KL; Tanaka, Toshiko T; Wojczynski, Mary K MK; Cvejkus, Ryan R; Nethander, Maria M; Ghasemi, Sahar S; Yang, Jingyun J; Zillikens, M Carola MC; Walter, Stefan S; Sicinski, Kamil K; Kague, Erika E; Ackert-Bicknell, Cheryl L CL; Arking, Dan E DE; Windham, B Gwen BG; Boerwinkle, Eric E; Grove, Megan L ML; Graff, Misa M; Spira, Dominik D; Demuth, Ilja I; van der Velde, Nathalie N; de Groot, Lisette C P G M LCPGM; Psaty, Bruce M BM; Odden, Michelle C MC; Fohner, Alison E AE; Langenberg, Claudia C; Wareham, Nicholas J NJ; Bandinelli, Stefania S; van Schoor, Natasja M NM; Huisman, Martijn M; Tan, Qihua Q; Zmuda, Joseph J; Mellström, Dan D; Karlsson, Magnus M; Bennett, David A DA; Buchman, Aron S AS; De Jager, Philip L PL; Uitterlinden, Andre G AG; Völker, Uwe U; Kocher, Thomas T; Teumer, Alexander A; Rodriguéz-Mañas, Leocadio L; García, Francisco J FJ; Carnicero, José A JA; Herd, Pamela P; Bertram, Lars L; Ohlsson, Claes C; Murabito, Joanne M JM; Melzer, David D; Kuchel, George A GA; Ferrucci, Luigi L; Karasik, David D; Rivadeneira, Fernando F; Kiel, Douglas P DP; Pilling, Luke C LC
Publication Date: 2021-01-28

Variant appearance in text: rs3204689
PubMed Link: 33510174
Variant Present in the following documents:
  • Main text
  • 41467_2021_20918_MOESM2_ESM.pdf
  • 41467_2021_Article_20918.pdf
View BVdb publication page



Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.

Annals Of The Rheumatic Diseases
Boer, Cindy Germaine CG; Yau, Michelle S MS; Rice, Sarah J SJ; Coutinho de Almeida, Rodrigo R; Cheung, Kathleen K; Styrkarsdottir, Unnur U; Southam, Lorraine L; Broer, Linda L; Wilkinson, Jeremy Mark JM; Uitterlinden, André G AG; Zeggini, Eleftheria E; Felson, David D; Loughlin, John J; Young, Mariel M; Capellini, Terence Dante TD; Meulenbelt, Ingrid I; van Meurs, Joyce Bj JB
Publication Date: 2020-10-14

Variant appearance in text: rs3204689
PubMed Link: 33055079
Variant Present in the following documents:
  • Main text
  • annrheumdis-2020-217834.pdf
View BVdb publication page



Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.

Annals Of The Rheumatic Diseases
Boer, Cindy Germaine CG; Yau, Michelle S MS; Rice, Sarah J SJ; Coutinho de Almeida, Rodrigo R; Cheung, Kathleen K; Styrkarsdottir, Unnur U; Southam, Lorraine L; Broer, Linda L; Wilkinson, Jeremy Mark JM; Uitterlinden, André G AG; Zeggini, Eleftheria E; Felson, David D; Loughlin, John J; Young, Mariel M; Capellini, Terence Dante TD; Meulenbelt, Ingrid I; van Meurs, Joyce Bj JB
Publication Date: 2021-03

Variant appearance in text: rs3204689
PubMed Link: 33055079
Variant Present in the following documents:
  • Main text
  • annrheumdis-2020-217834.pdf
View BVdb publication page



Generation and characterization of human induced pluripotent stem cells (iPSCs) from hand osteoarthritis patient-derived fibroblasts.

Scientific Reports
Castro-Viñuelas, R R; Sanjurjo-Rodríguez, C C; Piñeiro-Ramil, M M; Hermida-Gómez, T T; Rodríguez-Fernández, S S; Oreiro, N N; de Toro, J J; Fuentes, I I; Blanco, F J FJ; Díaz-Prado, S S
Publication Date: 2020-03-06

Variant appearance in text: rs3204689
PubMed Link: 32144293
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_61071.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs3204689
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci.

Arthritis & Rheumatology (Hoboken, N.J.)
Rice, Sarah J SJ; Tselepi, Maria M; Sorial, Antony K AK; Aubourg, Guillaume G; Shepherd, Colin C; Almarza, David D; Skelton, Andrew J AJ; Pangou, Ioanna I; Deehan, David D; Reynard, Louise N LN; Loughlin, John J
Publication Date: 2019-08

Variant appearance in text: rs3204689
PubMed Link: 30730609
Variant Present in the following documents:
  • Main text
  • ART-71-1285.pdf
View BVdb publication page



Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage.

Arthritis & Rheumatology (Hoboken, N.J.)
den Hollander, Wouter W; Pulyakhina, Irina I; Boer, Cindy C; Bomer, Nils N; van der Breggen, Ruud R; Arindrarto, Wibowo W; Couthino de Almeida, Rodrigo R; Lakenberg, Nico N; Sentner, Thom T; Laros, Jeroen F J JFJ; 't Hoen, Peter A C PAC; Slagboom, Eline P E EPE; Nelissen, Rob G H H RGHH; van Meurs, Joyce J; Ramos, Yolande F M YFM; Meulenbelt, Ingrid I
Publication Date: 2019-04

Variant appearance in text: rs3204689
PubMed Link: 30298554
Variant Present in the following documents:
  • Main text
  • ART-71-561.pdf
  • ART-71-561-s012.pdf
  • ART-71-561-s011.pdf
View BVdb publication page



Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant.

Arthritis & Rheumatology (Hoboken, N.J.)
Shepherd, Colin C; Zhu, Dongxing D; Skelton, Andrew J AJ; Combe, Jennifer J; Threadgold, Harrison H; Zhu, Linyi L; Vincent, Tonia L TL; Stuart, Paul P; Reynard, Louise N LN; Loughlin, John J
Publication Date: 2018-10

Variant appearance in text: rs3204689
PubMed Link: 29732726
Variant Present in the following documents:
  • Main text
  • ART-70-1577.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs3204689
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study.

Plos One
Reynard, Louise N LN; Ratnayake, Madhushika M; Santibanez-Koref, Mauro M; Loughlin, John J
Publication Date: 2016

Variant appearance in text: rs3204689
PubMed Link: 27391021
Variant Present in the following documents:
  • Main text
  • pone.0159024.pdf
View BVdb publication page



Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk.

Human Molecular Genetics
Rushton, Michael D MD; Reynard, Louise N LN; Young, David A DA; Shepherd, Colin C; Aubourg, Guillaume G; Gee, Fiona F; Darlay, Rebecca R; Deehan, David D; Cordell, Heather J HJ; Loughlin, John J
Publication Date: 2015-12-20

Variant appearance in text: rs3204689
PubMed Link: 26464490
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs3204689
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetic contribution to osteoarthritis development: current state of evidence.

Current Opinion In Rheumatology
Loughlin, John J
Publication Date: 2015-05

Variant appearance in text: rs3204689
PubMed Link: 25775188
Variant Present in the following documents:
  • Main text
  • corhe-27-284.pdf
View BVdb publication page