Publications:

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Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.

Clinical Kidney Journal

Zhang, Changming C; Han, Xu X; Sun, Li L; Yang, Sirui S; Peng, Jiahui J; Chen, Yinghua Y; Jin, Ying Y; Xu, Feng F; Liu, Zhihong Z; Zhou, Qing Q

Publication Date: 2022-11

Variant appearance in text: rs11755393

PubMed Link: 36325013

Variant Present in the following documents:

• Main text

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Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.

Arthritis Research & Therapy

Tangtanatakul, Pattarin P; Thumarat, Chisanu C; Satproedprai, Nusara N; Kunhapan, Punna P; Chaiyasung, Tassamonwan T; Klinchanhom, Siriwan S; Wang, Yong-Fei YF; Wei, Wei W; Wongshinsri, Jeerapat J; Chiewchengchol, Direkrit D; Rodsaward, Pongsawat P; Ngamjanyaporn, Pintip P; Suangtamai, Thanitta T; Mahasirimongkol, Surakameth S; Pisitkun, Prapaporn P; Hirankarn, Nattiya N

Publication Date: 2020-08-08

Variant appearance in text: UHRF1BP1: Q454L

PubMed Link: 32771030

Variant Present in the following documents:

• Main text
• 13075_2020_Article_2276.pdf

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs11755393

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications

Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,

Publication Date: 2019-09-24

Variant appearance in text: rs11755393

PubMed Link: 31551420

Variant Present in the following documents:

• Main text
• 41467_2019_Article_12026.pdf
• 41467_2019_12026_MOESM1_ESM.pdf

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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: rs11755393

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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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: rs11755393

PubMed Link: 29070082

Variant Present in the following documents:

• Main text
• 13293_2017_Article_153.pdf

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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: rs11755393

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs11755393

PubMed Link: 27172182

Variant Present in the following documents:

• supp_g3.116.027326_TableS1.pdf

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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: rs11755393

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Clinical perspectives on lupus genetics: advances and opportunities.

Rheumatic Diseases Clinics Of North America

James, Judith A JA

Publication Date: 2014-08

Variant appearance in text: rs11755393

PubMed Link: 25034154

Variant Present in the following documents:

• Main text

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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: rs11755393

PubMed Link: 24925725

Variant Present in the following documents:

• Main text

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GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity

Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO

Publication Date: 2014-09

Variant appearance in text: rs11755393

PubMed Link: 24871463

Variant Present in the following documents:

• NIHMS583203-supplement-1.pdf

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Genes associated with SLE are targets of recent positive selection.

Autoimmune Diseases

Ramos, Paula S PS; Shaftman, Stephanie R SR; Ward, Ralph C RC; Langefeld, Carl D CD

Publication Date: 2014

Variant appearance in text: rs11755393

PubMed Link: 24587899

Variant Present in the following documents:

• Main text
• AD2014-203435.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs11755393

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Common risk alleles for inflammatory diseases are targets of recent positive selection.

American Journal Of Human Genetics

Raj, Towfique T; Kuchroo, Manik M; Replogle, Joseph M JM; Raychaudhuri, Soumya S; Stranger, Barbara E BE; De Jager, Philip L PL

Publication Date: 2013-04-04

Variant appearance in text: rs11755393

PubMed Link: 23522783

Variant Present in the following documents:

• Main text

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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: rs11755393

PubMed Link: 23326239

Variant Present in the following documents:

• Main text
• pgen.1003147.pdf

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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: rs11755393

PubMed Link: 22640752

Variant Present in the following documents:

• 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: rs11755393

PubMed Link: 22536486

Variant Present in the following documents:

• Main text
• AD2012-849684.pdf

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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: rs11755393

PubMed Link: 22305513

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: rs11755393

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: rs11755393

PubMed Link: 20933377

Variant Present in the following documents:

• 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: rs11755393

PubMed Link: 20441431

Variant Present in the following documents:

• Main text

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A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

Nature Genetics

Gateva, Vesela V; Sandling, Johanna K JK; Hom, Geoff G; Taylor, Kimberly E KE; Chung, Sharon A SA; Sun, Xin X; Ortmann, Ward W; Kosoy, Roman R; Ferreira, Ricardo C RC; Nordmark, Gunnel G; Gunnarsson, Iva I; Svenungsson, Elisabet E; Padyukov, Leonid L; Sturfelt, Gunnar G; Jönsen, Andreas A; Bengtsson, Anders A AA; Rantapää-Dahlqvist, Solbritt S; Baechler, Emily C EC; Brown, Elizabeth E EE; Alarcón, Graciela S GS; Edberg, Jeffrey C JC; Ramsey-Goldman, Rosalind R; McGwin, Gerald G; Reveille, John D JD; Vilá, Luis M LM; Kimberly, Robert P RP; Manzi, Susan S; Petri, Michelle A MA; Lee, Annette A; Gregersen, Peter K PK; Seldin, Michael F MF; Rönnblom, Lars L; Criswell, Lindsey A LA; Syvänen, Ann-Christine AC; Behrens, Timothy W TW; Graham, Robert R RR

Publication Date: 2009-11

Variant appearance in text: rs11755393

PubMed Link: 19838195

Variant Present in the following documents:

• Main text

View BVdb publication page

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