DOT1L c.82-3519C>A

Variant ID: 19-2177193-C-A

NM_032482.2(DOT1L):c.82-3519C>A

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12982744
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.

Faseb Bioadvances
Quilter, Claire R CR; Harvey, Kerry M KM; Bauer, Julien J; Skinner, Benjamin M BM; Gomez, Maria M; Shrivastava, Manu M; Doel, Andrew M AM; Drammeh, Saikou S; Dunger, David B DB; Moore, Sophie E SE; Ong, Ken K KK; Prentice, Andrew M AM; Bernstein, Robin M RM; Sargent, Carole A CA; Affara, Nabeel A NA
Publication Date: 2021-04

Variant appearance in text: rs12982744
PubMed Link: 33842847
Variant Present in the following documents:
  • FBA2-3-205-s004.xlsx, sheet 3
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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: rs12982744
PubMed Link: 33722698
Variant Present in the following documents:
  • Main text
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Bibliometrics Analysis of Butyrophilins as Immune Regulators [1992-2019] and Implications for Cancer Prognosis.

Frontiers In Immunology
Wang, Yixi Y; Zhao, Na N; Zhang, Xianwen X; Li, Zhenhua Z; Liang, Zheng Z; Yang, Jinrong J; Liu, Xingyu X; Wu, Yangzhe Y; Chen, Kebing K; Gao, Yunfei Y; Yin, Zhinan Z; Lin, Xuejia X; Zhou, Haibo H; Tian, Dongbo D; Cao, Yang Y; Hao, Jianlei J
Publication Date: 2020

Variant appearance in text: rs12982744
PubMed Link: 32695099
Variant Present in the following documents:
  • Table_1.xls, sheet 1
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The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.

Calcified Tissue International
Wilkinson, J Mark JM; Zeggini, Eleftheria E
Publication Date: 2021-09

Variant appearance in text: rs12982744
PubMed Link: 32393986
Variant Present in the following documents:
  • Main text
  • 223_2020_Article_702.pdf
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The Role of Dot1l in Prenatal and Postnatal Murine Chondrocytes and Trabecular Bone.

Jbmr Plus
Jo, Stephanie Y SY; Domowicz, Miriam S MS; Henry, Judith G JG; Schwartz, Nancy B NB
Publication Date: 2020-02

Variant appearance in text: rs12982744
PubMed Link: 32083237
Variant Present in the following documents:
  • Main text
  • JBM4-4-e10254.pdf
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Functional testing of thousands of osteoarthritis-associated variants for regulatory activity.

Nature Communications
Klein, Jason C JC; Keith, Aidan A; Rice, Sarah J SJ; Shepherd, Colin C; Agarwal, Vikram V; Loughlin, John J; Shendure, Jay J
Publication Date: 2019-06-04

Variant appearance in text: rs12982744
PubMed Link: 31164647
Variant Present in the following documents:
  • 41467_2019_Article_10439.pdf
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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: rs12982744
PubMed Link: 30298554
Variant Present in the following documents:
  • ART-71-561-s012.pdf
  • ART-71-561-s011.pdf
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Pathways to understanding the genomic aetiology of osteoarthritis.

Human Molecular Genetics
Cibrián Uhalte, Elena E; Wilkinson, Jeremy Mark JM; Southam, Lorraine L; Zeggini, Eleftheria E
Publication Date: 2017-10-01

Variant appearance in text: rs12982744
PubMed Link: 28977450
Variant Present in the following documents:
  • ddx302.pdf
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Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.

Annals Of The Rheumatic Diseases
Panoutsopoulou, Kalliope K; Thiagarajah, Shankar S; Zengini, Eleni E; Day-Williams, Aaron G AG; Ramos, Yolande Fm YF; Meessen, Jennifer Mta JM; Huetink, Kasper K; Nelissen, Rob Ghh RG; Southam, Lorraine L; Rayner, N William NW; , ; Doherty, Michael M; Meulenbelt, Ingrid I; Zeggini, Eleftheria E; Wilkinson, J Mark JM
Publication Date: 2017-07

Variant appearance in text: rs12982744
PubMed Link: 27974301
Variant Present in the following documents:
  • Main text
  • annrheumdis-2016-210373.pdf
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Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.

Plos Genetics
Castaño-Betancourt, Martha C MC; Evans, Dan S DS; Ramos, Yolande F M YF; Boer, Cindy G CG; Metrustry, Sarah S; Liu, Youfang Y; den Hollander, Wouter W; van Rooij, Jeroen J; Kraus, Virginia B VB; Yau, Michelle S MS; Mitchell, Braxton D BD; Muir, Kenneth K; Hofman, Albert A; Doherty, Michael M; Doherty, Sally S; Zhang, Weiya W; Kraaij, Robert R; Rivadeneira, Fernando F; Barrett-Connor, Elizabeth E; Maciewicz, Rose A RA; Arden, Nigel N; Nelissen, Rob G H H RG; Kloppenburg, Margreet M; Jordan, Joanne M JM; Nevitt, Michael C MC; Slagboom, Eline P EP; Hart, Deborah J DJ; Lafeber, Floris F; Styrkarsdottir, Unnur U; Zeggini, Eleftheria E; Evangelou, Evangelos E; Spector, Tim D TD; Uitterlinden, Andre G AG; Lane, Nancy E NE; Meulenbelt, Ingrid I; Valdes, Ana M AM; van Meurs, Joyce B J JB
Publication Date: 2016-10

Variant appearance in text: rs12982744
PubMed Link: 27701424
Variant Present in the following documents:
  • Main text
  • pgen.1006260.pdf
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Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis.

Medicine
Wang, Ting T; Liang, Yuting Y; Li, Hong H; Li, Haibo H; He, Quanze Q; Xue, Ying Y; Shen, Cong C; Zhang, Chunhua C; Xiang, Jingjing J; Ding, Jie J; Qiao, Longwei L; Zheng, Qiping Q
Publication Date: 2016-02

Variant appearance in text: rs12982744
PubMed Link: 26886631
Variant Present in the following documents:
  • medi-95-e2811.pdf
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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: rs12982744
PubMed Link: 26464490
Variant Present in the following documents:
  • Main text
View BVdb publication page



Seq2pathway: an R/Bioconductor package for pathway analysis of next-generation sequencing data.

Bioinformatics (Oxford, England)
Wang, Bin B; Cunningham, John M JM; Yang, Xinan Holly XH
Publication Date: 2015-09-15

Variant appearance in text: rs12982744
PubMed Link: 25979472
Variant Present in the following documents:
  • supp_btv289_seq2pathwaypackage_Suppl.pdf
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics
van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,
Publication Date: 2015-02-15

Variant appearance in text: rs12982744
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
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Genome-wide association and functional studies identify a role for IGFBP3 in hip osteoarthritis.

Annals Of The Rheumatic Diseases
Evans, Daniel S DS; Cailotto, Frederic F; Parimi, Neeta N; Valdes, Ana M AM; Castaño-Betancourt, Martha C MC; Liu, Youfang Y; Kaplan, Robert C RC; Bidlingmaier, Martin M; Vasan, Ramachandran S RS; Teumer, Alexander A; Tranah, Gregory J GJ; Nevitt, Michael C MC; Cummings, Steven R SR; Orwoll, Eric S ES; Barrett-Connor, Elizabeth E; Renner, Jordan B JB; Jordan, Joanne M JM; Doherty, Michael M; Doherty, Sally A SA; Uitterlinden, Andre G AG; van Meurs, Joyce B J JB; Spector, Tim D TD; Lories, Rik J RJ; Lane, Nancy E NE
Publication Date: 2015-10

Variant appearance in text: rs12982744
PubMed Link: 24928840
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.

Annals Of The Rheumatic Diseases
Evangelou, Evangelos E; Kerkhof, Hanneke J HJ; Styrkarsdottir, Unnur U; Ntzani, Evangelia E EE; Bos, Steffan D SD; Esko, Tonu T; Evans, Daniel S DS; Metrustry, Sarah S; Panoutsopoulou, Kalliope K; Ramos, Yolande F M YF; Thorleifsson, Gudmar G; Tsilidis, Konstantinos K KK; , ; Arden, Nigel N; Aslam, Nadim N; Bellamy, Nicholas N; Birrell, Fraser F; Blanco, Francisco J FJ; Carr, Andrew A; Chapman, Kay K; Day-Williams, Aaron G AG; Deloukas, Panos P; Doherty, Michael M; Engström, Gunnar G; Helgadottir, Hafdis T HT; Hofman, Albert A; Ingvarsson, Thorvaldur T; Jonsson, Helgi H; Keis, Aime A; Keurentjes, J Christiaan JC; Kloppenburg, Margreet M; Lind, Penelope A PA; McCaskie, Andrew A; Martin, Nicholas G NG; Milani, Lili L; Montgomery, Grant W GW; Nelissen, Rob G H H RG; Nevitt, Michael C MC; Nilsson, Peter M PM; Ollier, William Er WE; Parimi, Neeta N; Rai, Ashok A; Ralston, Stuart H SH; Reed, Mike R MR; Riancho, Jose A JA; Rivadeneira, Fernando F; Rodriguez-Fontenla, Cristina C; Southam, Lorraine L; Thorsteinsdottir, Unnur U; Tsezou, Aspasia A; Wallis, Gillian A GA; Wilkinson, J Mark JM; Gonzalez, Antonio A; Lane, Nancy E NE; Lohmander, L Stefan LS; Loughlin, John J; Metspalu, Andres A; Uitterlinden, Andre G AG; Jonsdottir, Ingileif I; Stefansson, Kari K; Slagboom, P Eline PE; Zeggini, Eleftheria E; Meulenbelt, Ingrid I; Ioannidis, John Pa JP; Spector, Tim D TD; van Meurs, Joyce B J JB; Valdes, Ana M AM
Publication Date: 2014-12

Variant appearance in text: rs12982744
PubMed Link: 23989986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in osteoarthritis genetics.

Journal Of Medical Genetics
Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E
Publication Date: 2013-11

Variant appearance in text: rs12982744
PubMed Link: 23868913
Variant Present in the following documents:
  • Main text
View BVdb publication page



The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males.

Annals Of The Rheumatic Diseases
Evangelou, Evangelos E; Valdes, Ana M AM; Castano-Betancourt, Martha C MC; Doherty, M M; Doherty, Sally S; Esko, Tonu T; Ingvarsson, Thorvaldur T; Ioannidis, John P A JP; Kloppenburg, Margreet M; Metspalu, Andres A; Ntzani, Evangelia E EE; Panoutsopoulou, Kalliope K; Slagboom, P Eline PE; Southam, Lorraine L; Spector, Tim D TD; Styrkarsdottir, Unnur U; Stefanson, Kari K; Uitterlinden, André G AG; Wheeler, Margaret M; Zeggini, Eleftheria E; Meulenbelt, Ingrid I; van Meurs, Joyce B JB; ,
Publication Date: 2013-07

Variant appearance in text: rs12982744
PubMed Link: 23505243
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics and functional analysis of primary osteoarthritis susceptibility.

Expert Reviews In Molecular Medicine
Reynard, Louise N LN; Loughlin, John J
Publication Date: 2013-02-18

Variant appearance in text: rs12982744
PubMed Link: 23414786
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic contribution to severe post-traumatic osteoarthritis.

Annals Of The Rheumatic Diseases
Valdes, Ana M AM; Doherty, Sally A SA; Muir, Kenneth R KR; Wheeler, Margaret M; Maciewicz, Rose A RA; Zhang, Weiya W; Doherty, Michael M
Publication Date: 2013-10

Variant appearance in text: rs12982744
PubMed Link: 23355107
Variant Present in the following documents:
  • Main text
  • annrheumdis-2012-202562.pdf
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Genetic epidemiology of osteoarthritis: recent developments and future directions.

Current Opinion In Rheumatology
Hochberg, Marc C MC; Yerges-Armstrong, Laura L; Yau, Michelle M; Mitchell, Braxton D BD
Publication Date: 2013-03

Variant appearance in text: rs12982744
PubMed Link: 23249833
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Castaño Betancourt, Martha C MC; Cailotto, Frederic F; Kerkhof, Hanneke J HJ; Cornelis, Frederique M F FM; Doherty, Sally A SA; Hart, Deborah J DJ; Hofman, Albert A; Luyten, Frank P FP; Maciewicz, Rose A RA; Mangino, Massimo M; Metrustry, Sarah S; Muir, Kenneth K; Peters, Marjolein J MJ; Rivadeneira, Fernando F; Wheeler, Maggie M; Zhang, Weiya W; Arden, Nigel N; Spector, Tim D TD; Uitterlinden, Andre G AG; Doherty, Michael M; Lories, Rik J U RJ; Valdes, Ana M AM; van Meurs, Joyce B J JB
Publication Date: 2012-05-22

Variant appearance in text: rs12982744
PubMed Link: 22566624
Variant Present in the following documents:
  • Main text
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Adult height variants affect birth length and growth rate in children.

Human Molecular Genetics
Paternoster, Lavinia L; Howe, Laura D LD; Tilling, Kate K; Weedon, Michael N MN; Freathy, Rachel M RM; Frayling, Timothy M TM; Kemp, John P JP; Smith, George Davey GD; Timpson, Nicholas J NJ; Ring, Susan M SM; Evans, David M DM; Lawlor, Debbie A DA
Publication Date: 2011-10-15

Variant appearance in text: rs12982744
PubMed Link: 21757498
Variant Present in the following documents:
  • Main text
  • ddr309.pdf
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