BANK1 c.182G>T ;(p.R61L)

Variant ID: 4-102751076-G-T

NM_017935.4(BANK1):c.182G>T;(p.R61L)

This variant was identified in 62 publications

View GRCh38 version.




Publications:


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: rs10516487
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.

International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Publication Date: 2022-01

Variant appearance in text: rs10516487
PubMed Link: 34791504
Variant Present in the following documents:
  • Main text
  • ijmm-49-01-05063.pdf
View BVdb publication page



Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease.

Frontiers In Immunology
Ren, Pingping P; Lu, Luying L; Cai, Shasha S; Chen, Jianghua J; Lin, Weiqiang W; Han, Fei F
Publication Date: 2021

Variant appearance in text: rs10516487
PubMed Link: 34484216
Variant Present in the following documents:
  • Main text
  • fimmu-12-713540.pdf
View BVdb publication page



Mendelian randomization as an approach to assess causal effects of inflammatory bowel disease on atrial fibrillation.

Aging
Chen, LaiTe L; Fu, GuoSheng G; Jiang, ChenYang C
Publication Date: 2021-04-06

Variant appearance in text: rs10516487
PubMed Link: 33824227
Variant Present in the following documents:
  • Main text
  • aging-13-202906.pdf
View BVdb publication page



Transcriptome Sequencing Reveals Potential Roles of ICOS in Primary Sjögren's Syndrome.

Frontiers In Cell And Developmental Biology
Luo, Jing J; Liao, Xin X; Zhang, Lihe L; Xu, Xin X; Ying, Senhong S; Yu, Mengjiao M; Zhu, Lixia L; Lin, Suxian S; Wang, Xiaobing X
Publication Date: 2020

Variant appearance in text: rs10516487
PubMed Link: 33344450
Variant Present in the following documents:
  • Main text
View BVdb publication page



Classical Disease-Specific Autoantibodies in Systemic Sclerosis: Clinical Features, Gene Susceptibility, and Disease Stratification.

Frontiers In Medicine
Yang, Changyi C; Tang, Shunli S; Zhu, Dingxian D; Ding, Yingguo Y; Qiao, Jianjun J
Publication Date: 2020

Variant appearance in text: rs10516487
PubMed Link: 33330547
Variant Present in the following documents:
  • Main text
  • fmed-07-587773.pdf
View BVdb publication page



Review of Genetic Variation as a Predictive Biomarker for Chronic Graft-Versus-Host-Disease After Allogeneic Stem Cell Transplantation.

Frontiers In Immunology
Partanen, Jukka J; Hyvärinen, Kati K; Bickeböller, Heike H; Bogunia-Kubik, Katarzyna K; Crossland, Rachel E RE; Ivanova, Milena M; Perutelli, Francesca F; Dressel, Ralf R
Publication Date: 2020

Variant appearance in text: rs10516487
PubMed Link: 33193367
Variant Present in the following documents:
  • Main text
  • fimmu-11-575492.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs10516487
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells.

Cellular & Molecular Immunology
Georg, Ina I; Díaz-Barreiro, Alejandro A; Morell, Maria M; Pey, Angel L AL; Alarcón-Riquelme, Marta E ME
Publication Date: 2020-09

Variant appearance in text: rs10516487
PubMed Link: 31243359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Predispositions of Glucocorticoid Resistance and Therapeutic Outcomes in Polymyalgia Rheumatica and Giant Cell Arteritis.

Journal Of Clinical Medicine
Smutny, Tomas T; Barvik, Ivan I; Veleta, Tomas T; Pavek, Petr P; Soukup, Tomas T
Publication Date: 2019-04-27

Variant appearance in text: rs10516487
PubMed Link: 31035618
Variant Present in the following documents:
  • Main text
  • jcm-08-00582.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs10516487
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs10516487
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Bank1 and NF-kappaB as key regulators in anti-nucleolar antibody development.

Plos One
Alkaissi, Hammoudi H; Havarinasab, Said S; Nielsen, Jesper Bo JB; Söderkvist, Peter P; Hultman, Per P
Publication Date: 2018

Variant appearance in text: rs10516487
PubMed Link: 30016332
Variant Present in the following documents:
  • pone.0199979.pdf
View BVdb publication page



Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
Publication Date: 2018-01-30

Variant appearance in text: rs10516487
PubMed Link: 29382849
Variant Present in the following documents:
  • 41598_2017_19017_MOESM1_ESM.pdf
View BVdb publication page



Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma.

Lupus Science & Medicine
Bernatsky, Sasha S; Velásquez García, Héctor A HA; Spinelli, John J JJ; Gaffney, Patrick P; Smedby, Karin E KE; Ramsey-Goldman, Rosalind R; Wang, Sophia S SS; Adami, Hans-Olov HO; Albanes, Demetrius D; Angelucci, Emanuele E; Ansell, Stephen M SM; Asmann, Yan W YW; Becker, Nikolaus N; Benavente, Yolanda Y; Berndt, Sonja I SI; Bertrand, Kimberly A KA; Birmann, Brenda M BM; Boeing, Heiner H; Boffetta, Paolo P; Bracci, Paige M PM; Brennan, Paul P; Brooks-Wilson, Angela R AR; Cerhan, James R JR; Chanock, Stephen J SJ; Clavel, Jacqueline J; Conde, Lucia L; Cotenbader, Karen H KH; Cox, David G DG; Cozen, Wendy W; Crouch, Simon S; De Roos, Anneclaire J AJ; de Sanjose, Silvia S; Di Lollo, Simonetta S; Diver, W Ryan WR; Dogan, Ahmet A; Foretova, Lenka L; Ghesquières, Hervé H; Giles, Graham G GG; Glimelius, Bengt B; Habermann, Thomas M TM; Haioun, Corinne C; Hartge, Patricia P; Hjalgrim, Henrik H; Holford, Theodore R TR; Holly, Elizabeth A EA; Jackson, Rebecca D RD; Kaaks, Rudolph R; Kane, Eleanor E; Kelly, Rachel S RS; Klein, Robert J RJ; Kraft, Peter P; Kricker, Anne A; Lan, Qing Q; Lawrence, Charles C; Liebow, Mark M; Lightfoot, Tracy T; Link, Brian K BK; Maynadie, Marc M; McKay, James J; Melbye, Mads M; Molina, Thierry J TJ; Monnereau, Alain A; Morton, Lindsay M LM; Nieters, Alexandra A; North, Kari E KE; Novak, Anne J AJ; Offit, Kenneth K; Purdue, Mark P MP; Rais, Marco M; Riby, Jacques J; Roman, Eve E; Rothman, Nathaniel N; Salles, Gilles G; Severi, Gianluca G; Severson, Richard K RK; Skibola, Christine F CF; Slager, Susan L SL; Smith, Alex A; Smith, Martyn T MT; Southey, Melissa C MC; Staines, Anthony A; Teras, Lauren R LR; Thompson, Carrie A CA; Tilly, Hervé H; Tinker, Lesley F LF; Tjonneland, Anne A; Turner, Jenny J; Vajdic, Claire M CM; Vermeulen, Roel C H RCH; Vijai, Joseph J; Vineis, Paolo P; Virtamo, Jarmo J; Wang, Zhaoming Z; Weinstein, Stephanie S; Witzig, Thomas E TE; Zelenetz, Andrew A; Zeleniuch-Jacquotte, Anne A; Zhang, Yawei Y; Zheng, Tongzhang T; Zucca, Mariagrazia M; Clarke, Ann E AE
Publication Date: 2017

Variant appearance in text: rs10516487
PubMed Link: 29214033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Abnormal B Cell Development in Systemic Lupus Erythematosus: What the Genetics Tell Us.

Arthritis & Rheumatology (Hoboken, N.J.)
Karrar, Sarah S; Cunninghame Graham, Deborah S DS
Publication Date: 2018-04

Variant appearance in text: rs10516487
PubMed Link: 29207444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms.

Biology Of Sex Differences
Lindén, Magdalena M; Ramírez Sepúlveda, Jorge I JI; James, Tojo T; Thorlacius, Gudny Ella GE; Brauner, Susanna S; Gómez-Cabrero, David D; Olsson, Tomas T; Kockum, Ingrid I; Wahren-Herlenius, Marie M
Publication Date: 2017-10-25

Variant appearance in text: rs10516487
PubMed Link: 29070082
Variant Present in the following documents:
  • Main text
  • 13293_2017_Article_153.pdf
View BVdb publication page



Identification of candidate protective variants for common diseases and evaluation of their protective potential.

Bmc Genomics
Butler, Joe M JM; Hall, Neil N; Narendran, Niro N; Yang, Yit C YC; Paraoan, Luminita L
Publication Date: 2017-08-03

Variant appearance in text: rs10516487
PubMed Link: 28774272
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3964.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs10516487
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Unfolding the pathogenesis of scleroderma through genomics and epigenomics.

Journal Of Autoimmunity
Tsou, Pei-Suen PS; Sawalha, Amr H AH
Publication Date: 2017-09

Variant appearance in text: rs10516487
PubMed Link: 28526340
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: rs10516487
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.s002.xlsx, sheet 1
View BVdb publication page



DNA-reactive B cells in lupus.

Current Opinion In Immunology
Suurmond, Jolien J; Calise, Justine J; Malkiel, Susan S; Diamond, Betty B
Publication Date: 2016-12

Variant appearance in text: rs10516487
PubMed Link: 27504587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk factors for sclerotic graft-versus-host disease.

Blood
Inamoto, Yoshihiro Y; Martin, Paul J PJ; Flowers, Mary E D ME; Lee, Stephanie J SJ; Carpenter, Paul A PA; Warren, Edus H EH; Geraghty, Daniel E DE; Lee, Ni N; Boeckh, Michael J MJ; Storer, Barry E BE; Levine, David M DM; Fan, Wenhong W; Zhao, Lue-Ping LP; Hansen, John A JA
Publication Date: 2016-09-15

Variant appearance in text: rs10516487
PubMed Link: 27313329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Several Critical Cell Types, Tissues, and Pathways Are Implicated in Genome-Wide Association Studies for Systemic Lupus Erythematosus.

G3 (Bethesda, Md.)
Liu, Lu L; Yin, Xianyong X; Wen, Leilei L; Yang, Chao C; Sheng, Yujun Y; Lin, Yan Y; Zhu, Zhengwei Z; Shen, Changbing C; Shi, Yinjuan Y; Zheng, Yajie Y; Yang, Sen S; Zhang, Xuejun X; Cui, Yong Y
Publication Date: 2016-06-01

Variant appearance in text: rs10516487
PubMed Link: 27172182
Variant Present in the following documents:
  • supp_g3.116.027326_TableS1.pdf
View BVdb publication page



Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.

Arthritis & Rheumatology (Hoboken, N.J.)
Mak, Angel C Y AC; Tang, Paul L F PL; Cleveland, Clare C; Smith, Melanie H MH; Kari Connolly, M M; Katsumoto, Tamiko R TR; Wolters, Paul J PJ; Kwok, Pui-Yan PY; Criswell, Lindsey A LA
Publication Date: 2016-09

Variant appearance in text: rs10516487
PubMed Link: 27111861
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

Nature Communications
Berndt, Sonja I SI; Camp, Nicola J NJ; Skibola, Christine F CF; Vijai, Joseph J; Wang, Zhaoming Z; Gu, Jian J; Nieters, Alexandra A; Kelly, Rachel S RS; Smedby, Karin E KE; Monnereau, Alain A; Cozen, Wendy W; Cox, Angela A; Wang, Sophia S SS; Lan, Qing Q; Teras, Lauren R LR; Machado, Moara M; Yeager, Meredith M; Brooks-Wilson, Angela R AR; Hartge, Patricia P; Purdue, Mark P MP; Birmann, Brenda M BM; Vajdic, Claire M CM; Cocco, Pierluigi P; Zhang, Yawei Y; Giles, Graham G GG; Zeleniuch-Jacquotte, Anne A; Lawrence, Charles C; Montalvan, Rebecca R; Burdett, Laurie L; Hutchinson, Amy A; Ye, Yuanqing Y; Call, Timothy G TG; Shanafelt, Tait D TD; Novak, Anne J AJ; Kay, Neil E NE; Liebow, Mark M; Cunningham, Julie M JM; Allmer, Cristine C; Hjalgrim, Henrik H; Adami, Hans-Olov HO; Melbye, Mads M; Glimelius, Bengt B; Chang, Ellen T ET; Glenn, Martha M; Curtin, Karen K; Cannon-Albright, Lisa A LA; Diver, W Ryan WR; Link, Brian K BK; Weiner, George J GJ; Conde, Lucia L; Bracci, Paige M PM; Riby, Jacques J; Arnett, Donna K DK; Zhi, Degui D; Leach, Justin M JM; Holly, Elizabeth A EA; Jackson, Rebecca D RD; Tinker, Lesley F LF; Benavente, Yolanda Y; Sala, Núria N; Casabonne, Delphine D; Becker, Nikolaus N; Boffetta, Paolo P; Brennan, Paul P; Foretova, Lenka L; Maynadie, Marc M; McKay, James J; Staines, Anthony A; Chaffee, Kari G KG; Achenbach, Sara J SJ; Vachon, Celine M CM; Goldin, Lynn R LR; Strom, Sara S SS; Leis, Jose F JF; Weinberg, J Brice JB; Caporaso, Neil E NE; Norman, Aaron D AD; De Roos, Anneclaire J AJ; Morton, Lindsay M LM; Severson, Richard K RK; Riboli, Elio E; Vineis, Paolo P; Kaaks, Rudolph R; Masala, Giovanna G; Weiderpass, Elisabete E; Chirlaque, María-Dolores MD; Vermeulen, Roel C H RCH; Travis, Ruth C RC; Southey, Melissa C MC; Milne, Roger L RL; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie S; Clavel, Jacqueline J; Zheng, Tongzhang T; Holford, Theodore R TR; Villano, Danylo J DJ; Maria, Ann A; Spinelli, John J JJ; Gascoyne, Randy D RD; Connors, Joseph M JM; Bertrand, Kimberly A KA; Giovannucci, Edward E; Kraft, Peter P; Kricker, Anne A; Turner, Jenny J; Ennas, Maria Grazia MG; Ferri, Giovanni M GM; Miligi, Lucia L; Liang, Liming L; Ma, Baoshan B; Huang, Jinyan J; Crouch, Simon S; Park, Ju-Hyun JH; Chatterjee, Nilanjan N; North, Kari E KE; Snowden, John A JA; Wright, Josh J; Fraumeni, Joseph F JF; Offit, Kenneth K; Wu, Xifeng X; de Sanjose, Silvia S; Cerhan, James R JR; Chanock, Stephen J SJ; Rothman, Nathaniel N; Slager, Susan L SL
Publication Date: 2016-03-09

Variant appearance in text: rs10516487
PubMed Link: 26956414
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.

Elife
Raj, Prithvi P; Rai, Ekta E; Song, Ran R; Khan, Shaheen S; Wakeland, Benjamin E BE; Viswanathan, Kasthuribai K; Arana, Carlos C; Liang, Chaoying C; Zhang, Bo B; Dozmorov, Igor I; Carr-Johnson, Ferdicia F; Mitrovic, Mitja M; Wiley, Graham B GB; Kelly, Jennifer A JA; Lauwerys, Bernard R BR; Olsen, Nancy J NJ; Cotsapas, Chris C; Garcia, Christine K CK; Wise, Carol A CA; Harley, John B JB; Nath, Swapan K SK; James, Judith A JA; Jacob, Chaim O CO; Tsao, Betty P BP; Pasare, Chandrashekhar C; Karp, David R DR; Li, Quan Zhen QZ; Gaffney, Patrick M PM; Wakeland, Edward K EK
Publication Date: 2016-02-15

Variant appearance in text: rs10516487
PubMed Link: 26880555
Variant Present in the following documents:
  • Main text
  • elife-12089.pdf
View BVdb publication page



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: rs10516487
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Rheumatic Diseases Clinics Of North America
Salazar, Gloria G; Mayes, Maureen D MD
Publication Date: 2015-08

Variant appearance in text: rs10516487
PubMed Link: 26210123
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenesis of Systemic Sclerosis.

Frontiers In Immunology
Pattanaik, Debendra D; Brown, Monica M; Postlethwaite, Bradley C BC; Postlethwaite, Arnold E AE
Publication Date: 2015

Variant appearance in text: rs10516487
PubMed Link: 26106387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.

Current Rheumatology Reports
Korman, Benjamin D BD; Criswell, Lindsey A LA
Publication Date: 2015-03

Variant appearance in text: rs10516487
PubMed Link: 25777745
Variant Present in the following documents:
  • Main text
  • 11926_2014_Article_484.pdf
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs10516487
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes.

The Open Rheumatology Journal
Jin, Jingxiao J; Chou, Chou C; Lima, Maria M; Zhou, Danielle D; Zhou, Xiaodong X
Publication Date: 2014

Variant appearance in text: rs10516487
PubMed Link: 25328554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Publication Date: 2014-11

Variant appearance in text: rs10516487
PubMed Link: 25305756
Variant Present in the following documents:
  • NIHMS630801-supplement-1.pdf
View BVdb publication page



Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.

Arthritis Research & Therapy
Alonso-Perez, Elisa E; Suarez-Gestal, Marian M; Calaza, Manuel M; Blanco, Francisco J FJ; Suarez, Ana A; Santos, Maria Jose MJ; Papasteriades, Chryssa C; Carreira, Patricia P; Pullmann, Rudolf R; Ordi-Ros, Josep J; Marchini, Maurizio M; Skopouli, Fotini N FN; Bijl, Marc M; Barrizone, Nadia N; Sebastiani, Gian Domenico GD; Migliaresi, Sergio S; Witte, Torsten T; Lauwerys, Bernard R BR; Kovacs, Attila A; Ruzickova, Sarka S; Gomez-Reino, Juan J JJ; Gonzalez, Antonio A; ,
Publication Date: 2014-06-19

Variant appearance in text: rs10516487
PubMed Link: 24946689
Variant Present in the following documents:
  • Main text
  • ar4585.pdf
View BVdb publication page



Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.

Journal Of The American Society Of Nephrology : Jasn
Chung, Sharon A SA; Brown, Elizabeth E EE; Williams, Adrienne H AH; Ramos, Paula S PS; Berthier, Celine C CC; Bhangale, Tushar T; Alarcon-Riquelme, Marta E ME; Behrens, Timothy W TW; Criswell, Lindsey A LA; Graham, Deborah Cunninghame DC; Demirci, F Yesim FY; Edberg, Jeffrey C JC; Gaffney, Patrick M PM; Harley, John B JB; Jacob, Chaim O CO; Kamboh, M Ilyas MI; Kelly, Jennifer A JA; Manzi, Susan S; Moser-Sivils, Kathy L KL; Russell, Laurie P LP; Petri, Michelle M; Tsao, Betty P BP; Vyse, Tim J TJ; Zidovetzki, Raphael R; Kretzler, Matthias M; Kimberly, Robert P RP; Freedman, Barry I BI; Graham, Robert R RR; Langefeld, Carl D CD; ,
Publication Date: 2014-12

Variant appearance in text: rs10516487
PubMed Link: 24925725
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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Publication Date: 2013

Variant appearance in text: rs10516487
PubMed Link: 24109560
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  • peerj-01-177-s010.xlsx, sheet 1
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BANK1 and BLK act through phospholipase C gamma 2 in B-cell signaling.

Plos One
Bernal-Quirós, Manuel M; Wu, Ying-Yu YY; Alarcón-Riquelme, Marta E ME; Castillejo-López, Casimiro C
Publication Date: 2013

Variant appearance in text: rs10516487
PubMed Link: 23555801
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  • pone.0059842.pdf
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A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH
Publication Date: 2013

Variant appearance in text: rs10516487
PubMed Link: 23326239
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Brief Report: Single-nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians.

Arthritis And Rheumatism
Kaiser, Rachel R; Taylor, Kimberly E KE; Deng, Yun Y; Zhao, Jian J; Li, Yonghong Y; Nititham, Joanne J; Chang, Monica M; Catanese, Joseph J; Begovich, Ann B AB; Brown, Elizabeth E EE; Edberg, Jeffrey C JC; McGwin, Gerald G; Alarcón, Graciela S GS; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vila, Luis M LM; Petri, Michelle M; Kimberly, Robert P RP; Feng, Xuebing X; Sun, Lingyun L; Shen, Nan N; Li, Wei W; Lu, Jian-Xin JX; Wakeland, Edward K EK; Li, Quan-Zhen QZ; Yang, Wanling W; Lau, Yu-Lung YL; Liu, Fei-Lan FL; Chang, Deh-Ming DM; Yu, Chack-Yung CY; Song, Yeong W YW; Tsao, Betty P BP; Criswell, Lindsey A LA; ,
Publication Date: 2013-01

Variant appearance in text: rs10516487
PubMed Link: 23124848
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The genetics of scleroderma: looking into the postgenomic era.

Current Opinion In Rheumatology
Mayes, Maureen D MD
Publication Date: 2012-11

Variant appearance in text: rs10516487
PubMed Link: 23026857
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The genetics of lupus: a functional perspective.

Arthritis Research & Therapy
Guerra, Sandra G SG; Vyse, Timothy J TJ; Cunninghame Graham, Deborah S DS
Publication Date: 2012-05-29

Variant appearance in text: rs10516487
PubMed Link: 22640752
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  • Main text
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Lupus nephritis: an overview of recent findings.

Autoimmune Diseases
de Zubiria Salgado, Alberto A; Herrera-Diaz, Catalina C
Publication Date: 2012

Variant appearance in text: rs10516487
PubMed Link: 22536486
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  • Main text
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Sex-specific differences in the relationship between genetic susceptibility, T cell DNA demethylation and lupus flare severity.

Journal Of Autoimmunity
Sawalha, Amr H AH; Wang, Lu L; Nadig, Ajay A; Somers, Emily C EC; McCune, W Joseph WJ; , ; Hughes, Travis T; Merrill, Joan T JT; Scofield, R Hal RH; Strickland, Faith M FM; Richardson, Bruce B
Publication Date: 2012-05

Variant appearance in text: rs10516487
PubMed Link: 22305513
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A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese.

Plos Genetics
Okada, Yukinori Y; Shimane, Kenichi K; Kochi, Yuta Y; Tahira, Tomoko T; Suzuki, Akari A; Higasa, Koichiro K; Takahashi, Atsushi A; Horita, Tetsuya T; Atsumi, Tatsuya T; Ishii, Tomonori T; Okamoto, Akiko A; Fujio, Keishi K; Hirakata, Michito M; Amano, Hirofumi H; Kondo, Yuya Y; Ito, Satoshi S; Takada, Kazuki K; Mimori, Akio A; Saito, Kazuyoshi K; Kamachi, Makoto M; Kawaguchi, Yasushi Y; Ikari, Katsunori K; Mohammed, Osman Wael OW; Matsuda, Koichi K; Terao, Chikashi C; Ohmura, Koichiro K; Myouzen, Keiko K; Hosono, Naoya N; Tsunoda, Tatsuhiko T; Nishimoto, Norihiro N; Mimori, Tsuneyo T; Matsuda, Fumihiko F; Tanaka, Yoshiya Y; Sumida, Takayuki T; Yamanaka, Hisashi H; Takasaki, Yoshinari Y; Koike, Takao T; Horiuchi, Takahiko T; Hayashi, Kenshi K; Kubo, Michiaki M; Kamatani, Naoyuki N; Yamada, Ryo R; Nakamura, Yusuke Y; Yamamoto, Kazuhiko K
Publication Date: 2012-01

Variant appearance in text: rs10516487
PubMed Link: 22291604
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  • Main text
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A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.

Plos Genetics
Ramos, Paula S PS; Criswell, Lindsey A LA; Moser, Kathy L KL; Comeau, Mary E ME; Williams, Adrienne H AH; Pajewski, Nicholas M NM; Chung, Sharon A SA; Graham, Robert R RR; Zidovetzki, Raphael R; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Jacob, Chaim O CO; Vyse, Timothy J TJ; Tsao, Betty P BP; Kimberly, Robert P RP; Gaffney, Patrick M PM; Alarcón-Riquelme, Marta E ME; Harley, John B JB; Langefeld, Carl D CD; ,
Publication Date: 2011-12

Variant appearance in text: rs10516487
PubMed Link: 22174698
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  • Main text
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Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Hughes, Travis T; Adler, Adam A; Merrill, Joan T JT; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Williams, Adrienne A; Langefeld, Carl D CD; Gilkeson, Gary S GS; Sanchez, Elena E; Martin, Javier J; Boackle, Susan A SA; Stevens, Anne M AM; Alarcón, Graciela S GS; Niewold, Timothy B TB; Brown, Elizabeth E EE; Kimberly, Robert P RP; Edberg, Jeffrey C JC; Ramsey-Goldman, Rosalind R; Petri, Michelle M; Reveille, John D JD; Criswell, Lindsey A LA; Vilá, Luis M LM; Jacob, Chaim O CO; Gaffney, Patrick M PM; Moser, Kathy L KL; Vyse, Timothy J TJ; Alarcón-Riquelme, Marta E ME; , ; James, Judith A JA; Tsao, Betty P BP; Scofield, R Hal RH; Harley, John B JB; Richardson, Bruce C BC; Sawalha, Amr H AH
Publication Date: 2012-05

Variant appearance in text: rs10516487
PubMed Link: 22110124
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  • Main text
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Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.

Plos Genetics
Cunninghame Graham, Deborah S DS; Morris, David L DL; Bhangale, Tushar R TR; Criswell, Lindsey A LA; Syvänen, Ann-Christine AC; Rönnblom, Lars L; Behrens, Timothy W TW; Graham, Robert R RR; Vyse, Timothy J TJ
Publication Date: 2011-10

Variant appearance in text: rs10516487
PubMed Link: 22046141
Variant Present in the following documents:
  • Main text
  • pgen.1002341.pdf
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Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.

Arthritis And Rheumatism
Hughes, Travis T; Adler, Adam A; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Williams, Adrienne H AH; Langefeld, Carl D CD; Brown, Elizabeth E EE; Alarcón, Graciela S GS; Kimberly, Robert P RP; Edberg, Jeffrey C JC; Ramsey-Goldman, Rosalind R; Petri, Michelle M; Boackle, Susan A SA; Stevens, Anne M AM; Reveille, John D JD; Sanchez, Elena E; Martín, Javier J; Niewold, Timothy B TB; Vilá, Luis M LM; Scofield, R Hal RH; Gilkeson, Gary S GS; Gaffney, Patrick M PM; Criswell, Lindsey A LA; Moser, Kathy L KL; Merrill, Joan T JT; Jacob, Chaim O CO; Tsao, Betty P BP; James, Judith A JA; Vyse, Timothy J TJ; Alarcón-Riquelme, Marta E ME; , ; Harley, John B JB; Richardson, Bruce C BC; Sawalha, Amr H AH
Publication Date: 2012-02

Variant appearance in text: rs10516487
PubMed Link: 21952918
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Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

Arthritis And Rheumatism
Sánchez, Elena E; Comeau, Mary E ME; Freedman, Barry I BI; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Langefeld, Carl D CD; Brown, Elizabeth E EE; Alarcón, Graciela S GS; Kimberly, Robert P RP; Edberg, Jeffrey C JC; Ramsey-Goldman, Rosalind R; Petri, Michelle M; Reveille, John D JD; Vilá, Luis M LM; Merrill, Joan T JT; Tsao, Betty P BP; Kamen, Diane L DL; Gilkeson, Gary S GS; James, Judith A JA; Vyse, Timothy J TJ; , ; Gaffney, Patrick M PM; Jacob, Chaim O CO; Niewold, Timothy B TB; Richardson, Bruce C BC; Harley, John B JB; Alarcón-Riquelme, Marta E ME; Sawalha, Amr H AH
Publication Date: 2011-11

Variant appearance in text: rs10516487
PubMed Link: 21792837
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  • Main text
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Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Sanchez, Elena E; Nadig, Ajay A; Richardson, Bruce C BC; Freedman, Barry I BI; Kaufman, Kenneth M KM; Kelly, Jennifer A JA; Niewold, Timothy B TB; Kamen, Diane L DL; Gilkeson, Gary S GS; Ziegler, Julie T JT; Langefeld, Carl D CD; Alarcón, Graciela S GS; Edberg, Jeffrey C JC; Ramsey-Goldman, Rosalind R; Petri, Michelle M; Brown, Elizabeth E EE; Kimberly, Robert P RP; Reveille, John D JD; Vilá, Luis M LM; Merrill, Joan T JT; Anaya, Juan-Manuel JM; James, Judith A JA; Pons-Estel, Bernardo A BA; Martin, Javier J; Park, So-Yeon SY; Bang, So-Young SY; Bae, Sang-Cheol SC; Moser, Kathy L KL; Vyse, Timothy J TJ; Criswell, Lindsey A LA; Gaffney, Patrick M PM; Tsao, Betty P BP; Jacob, Chaim O CO; Harley, John B JB; Alarcón-Riquelme, Marta E ME; , ; Sawalha, Amr H AH
Publication Date: 2011-10

Variant appearance in text: rs10516487
PubMed Link: 21719445
Variant Present in the following documents:
  • Main text
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Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

Plos Genetics
Chung, Sharon A SA; Taylor, Kimberly E KE; Graham, Robert R RR; Nititham, Joanne J; Lee, Annette T AT; Ortmann, Ward A WA; Jacob, Chaim O CO; Alarcón-Riquelme, Marta E ME; Tsao, Betty P BP; Harley, John B JB; Gaffney, Patrick M PM; Moser, Kathy L KL; , ; Petri, Michelle M; Demirci, F Yesim FY; Kamboh, M Ilyas MI; Manzi, Susan S; Gregersen, Peter K PK; Langefeld, Carl D CD; Behrens, Timothy W TW; Criswell, Lindsey A LA
Publication Date: 2011-03

Variant appearance in text: rs10516487
PubMed Link: 21408207
Variant Present in the following documents:
  • Main text
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Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.

Plos Genetics
Taylor, Kimberly E KE; Chung, Sharon A SA; Graham, Robert R RR; Ortmann, Ward A WA; Lee, Annette T AT; Langefeld, Carl D CD; Jacob, Chaim O CO; Kamboh, M Ilyas MI; Alarcón-Riquelme, Marta E ME; Tsao, Betty P BP; Moser, Kathy L KL; Gaffney, Patrick M PM; Harley, John B JB; Petri, Michelle M; Manzi, Susan S; Gregersen, Peter K PK; Behrens, Timothy W TW; Criswell, Lindsey A LA
Publication Date: 2011-02

Variant appearance in text: rs10516487
PubMed Link: 21379322
Variant Present in the following documents:
  • Main text
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Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Orozco, Gisela G; Eyre, Steve S; Hinks, Anne A; Bowes, John J; Morgan, Ann W AW; Wilson, Anthony G AG; Wordsworth, Paul P; Steer, Sophia S; Hocking, Lynne L; , ; Thomson, Wendy W; Worthington, Jane J; Barton, Anne A
Publication Date: 2011-03

Variant appearance in text: rs10516487
PubMed Link: 21068098
Variant Present in the following documents:
  • Main text
  • ard-70-03-0463.pdf
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Recent findings on genetics of systemic autoimmune diseases.

Current Opinion In Immunology
Delgado-Vega, Angélica A; Sánchez, Elena E; Löfgren, Sara S; Castillejo-López, Casimiro C; Alarcón-Riquelme, Marta E ME
Publication Date: 2010-12

Variant appearance in text: rs10516487
PubMed Link: 20933377
Variant Present in the following documents:
  • Main text
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Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.

Annals Of The Rheumatic Diseases
Webb, Ryan R; Kelly, Jennifer A JA; Somers, Emily C EC; Hughes, Travis T; Kaufman, Kenneth M KM; Sanchez, Elena E; Nath, Swapan K SK; Bruner, Gail G; Alarcón-Riquelme, Marta E ME; Gilkeson, Gary S GS; Kamen, Diane L DL; Richardson, Bruce C BC; Harley, John B JB; Sawalha, Amr H AH
Publication Date: 2011-01

Variant appearance in text: rs10516487
PubMed Link: 20881011
Variant Present in the following documents:
  • Main text
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Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.

Arthritis And Rheumatism
Sanchez, Elena E; Webb, Ryan D RD; Rasmussen, Astrid A; Kelly, Jennifer A JA; Riba, Laura L; Kaufman, Kenneth M KM; Garcia-de la Torre, Ignacio I; Moctezuma, Jose F JF; Maradiaga-Ceceña, Marco A MA; Cardiel-Rios, Mario H MH; Acevedo, Eduardo E; Cucho-Venegas, Mariano M; Garcia, Mercedes A MA; Gamron, Susana S; Pons-Estel, Bernardo A BA; Vasconcelos, Carlos C; Martin, Javier J; Tusié-Luna, Teresa T; Harley, John B JB; Richardson, Bruce B; Sawalha, Amr H AH; Alarcón-Riquelme, Marta E ME
Publication Date: 2010-12

Variant appearance in text: rs10516487
PubMed Link: 20848568
Variant Present in the following documents:
  • Main text
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The genetics of systemic sclerosis.

Discovery Medicine
Agarwal, Sandeep K SK
Publication Date: 2010-08

Variant appearance in text: rs10516487
PubMed Link: 20807474
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  • Main text
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Recent advances in the genetics of systemic lupus erythematosus.

Expert Review Of Clinical Immunology
Flesher, Donna L Thibault DL; Sun, Xin X; Behrens, Timothy W TW; Graham, Robert R RR; Criswell, Lindsey A LA
Publication Date: 2010-05

Variant appearance in text: rs10516487
PubMed Link: 20441431
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Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

Plos Genetics
Yang, Wanling W; Shen, Nan N; Ye, Dong-Qing DQ; Liu, Qiji Q; Zhang, Yan Y; Qian, Xiao-Xia XX; Hirankarn, Nattiya N; Ying, Dingge D; Pan, Hai-Feng HF; Mok, Chi Chiu CC; Chan, Tak Mao TM; Wong, Raymond Woon Sing RW; Lee, Ka Wing KW; Mok, Mo Yin MY; Wong, Sik Nin SN; Leung, Alexander Moon Ho AM; Li, Xiang-Pei XP; Avihingsanon, Yingyos Y; Wong, Chun-Ming CM; Lee, Tsz Leung TL; Ho, Marco Hok Kung MH; Lee, Pamela Pui Wah PP; Chang, Yuk Kwan YK; Li, Philip H PH; Li, Ruo-Jie RJ; Zhang, Lu L; Wong, Wilfred Hing Sang WH; Ng, Irene Oi Lin IO; Lau, Chak Sing CS; Sham, Pak Chung PC; Lau, Yu Lung YL; ,
Publication Date: 2010-02-12

Variant appearance in text: rs10516487
PubMed Link: 20169177
Variant Present in the following documents:
  • Main text
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Genetics of rheumatic disease.

Arthritis Research & Therapy
Clarke, Alex A; Vyse, Timothy J TJ
Publication Date: 2009

Variant appearance in text: rs10516487
PubMed Link: 19849816
Variant Present in the following documents:
  • Main text
  • ar2781.pdf
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