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Marta Alarcón-Riquelme

Research Profile

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Physiology

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TOP 3
Manuel Bernal-Quirós; Marta E Alarcón-Riquelme; Ying-Yu Wu; Casimiro Castillejo-López
BANK1 and BLK Act through Phospholipase C Gamma 2 in B-Cell Signaling.
David L Morris; Joanne Nititham; Janelle A Noble; Bernardo A Pons-Estel; John D Rioux; Michael F Seldin; Kimberly E Taylor; Marta E Alarcón-Riquelme; Lisa F Barcellos; Timothy W Behrens; Chris Cotsapas; Lindsey A Criswell; Michelle M A Fernando; Patrick M Gaffney; Robert R Graham; Peter K Gregersen; John B Harley; Stephen L Hauser; Geoffrey Hom; Carl D Langefeld; Timothy J Vyse
Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.
Angelica Maria Delgado-Vega; Mikhail G Dozmorov; Emoke Endreffy; Johan Frostegård; María Francisca González-Escribano; László Kovács; Sergey V Kozyrev; Bernard R Lauwerys; Javier Martin; Belén Martínez-García; Norberto Ortego Centeno; Bernardo A Pons-Estel; Manuel Bernal Quirós; Gian Domenico Sebastiani; Lennart Truedsson; Carlos Vasconcelos; Torsten Witte; Jonathan Wren; Ying-Yu Wu; Casimiro Castillejo-López; Berta Martins da Silva; Sandra D'Alfonso; Enrique de Ramón; Marta E Alarcón-Riquelme
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

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All Publications

2013: Manuel Bernal-Quirós; Marta E Alarcón-Riquelme; Ying-Yu Wu; Casimiro Castillejo-López
BANK1 and BLK Act through Phospholipase C Gamma 2 in B-Cell Signaling.
PloS one 2013;8(3):e59842.
2012: David L Morris; Joanne Nititham; Janelle A Noble; Bernardo A Pons-Estel; John D Rioux; Michael F Seldin; Kimberly E Taylor; Marta E Alarcón-Riquelme; Lisa F Barcellos; Timothy W Behrens; Chris Cotsapas; Lindsey A Criswell; Michelle M A Fernando; Patrick M Gaffney; Robert R Graham; Peter K Gregersen; John B Harley; Stephen L Hauser; Geoffrey Hom; Carl D Langefeld; Timothy J Vyse
Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.
American journal of human genetics 2012;91(5):778-93.
2012: Angelica Maria Delgado-Vega; Mikhail G Dozmorov; Emoke Endreffy; Johan Frostegård; María Francisca González-Escribano; László Kovács; Sergey V Kozyrev; Bernard R Lauwerys; Javier Martin; Belén Martínez-García; Norberto Ortego Centeno; Bernardo A Pons-Estel; Manuel Bernal Quirós; Gian Domenico Sebastiani; Lennart Truedsson; Carlos Vasconcelos; Torsten Witte; Jonathan Wren; Ying-Yu Wu; Casimiro Castillejo-López; Berta Martins da Silva; Sandra D'Alfonso; Enrique de Ramón; Marta E Alarcón-Riquelme
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
Annals of the rheumatic diseases 2012;71(7):1219-26.
2012: Karen H Costenbader; Steffen Gay; Luca Iaccarino; Marta E Alarcón-Riquelme; Andrea Doria
Genes, epigenetic regulation and environmental factors: which is the most relevant in developing autoimmune diseases?
Autoimmunity reviews 2012;11(8):604-9.
2012: S E Löfgren; B Martins da Silva; Bernardo A Pons-Estel; Lennart Truedsson; C Vasconcelos; T Witte; Sandra D'Alfonso; Emoke Endreffy; J Frostegård; L Kovács; Sergey V Kozyrev; B R Lauwerys; Marta E Alarcón-Riquelme
Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene.
Genes and immunity 2012;13(3):268-74.
2012: Timothy B Niewold; Michelle Petri; Rosalind Ramsey-Goldman; John D Reveille; Kenaz Thomas; Mohammed Tikly; Timothy J Vyse; Daniel Walker; Andrew K Wong; Graciela S Alarcón; Marta E Alarcón-Riquelme; Mary Crow; Jeffrey C Edberg; Beverly S Franek; Jacqueline M Frost; Patrick M Gaffney; Gary S Gilkeson; Judith A James; Diane L Kamen; Stan Kamp; Silvia N Kariuki; Kenneth M Kaufman; Jennifer A Kelly; Robert P Kimberly; Akaash A Kumar; Joan T Merrill; Kathy L Moser; John B Harley
IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus.
Annals of the rheumatic diseases 2012;71(3):463-8.
2012: Sergey V Kozyrev; Marta E Alarcón-Riquelme; M Bernal-Quirós; Casimiro Castillejo-López
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.
Genes and immunity 2012;13(2):129-38.
2012: Casimiro Castillejo-López; Sandra D'Alfonso; Angelica Maria Delgado-Vega; Nicolás Domínguez; Serena Fineschi; Johan Frostegård; Patrick M Gaffney; Gary Gilkeson; Guthridge Joel; John B Harley; Judith A James; Kenneth M Kaufman; Jennifer A Kelly; Sergey V Kozyrev; Juan R López-Egido; Rufei Lu; Javier Martin; Joan T Merrill; Kathy L Moser; David Pöllmann; Bernardo A Pons-Estel; Elena Sanchez; Elangovan Thavathiru; Torsten Witte; Jerome Wojcik; Ying-Yu Wu; José Luis Callejas; Marta E Alarcón-Riquelme
Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
Annals of the rheumatic diseases 2012;71(1):136-42.
2011: Paula S Ramos; Betty P Tsao; Timothy J Vyse; Adrienne H Williams; Raphael Zidovetzki; Marta E Alarcón-Riquelme; Sharon A Chung; Mary E Comeau; Lindsey A Criswell; Patrick M Gaffney; Robert R Graham; John B Harley; Chaim O Jacob; Kenneth M Kaufman; Jennifer A Kelly; Robert P Kimberly; Carl D Langefeld; Kathy L Moser; Nicholas M Pajewski
A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.
PLoS genetics 2011;7(12):e1002406.
2011: Antoine Sreih; Lakshman Subrahmanyan; Elisabet Svenungsson; Geraldine Yu; Lin Zhang; Anna-Karin Abelson; Marta E Alarcón-Riquelme; Joshua Cavett; Rana Ezzeddine; Stuart Glenn; Iva Gunnarsson; John B Harley; Avery LaChance; Lin Leng; Yuka Mizue; Ruth Montgomery; Andras Perl; Bernardo A Pons-Estel; Jane Salmon; Richard Bucala
Dual effect of the macrophage migration inhibitory factor gene on the development and severity of human systemic lupus erythematosus.
Arthritis and rheumatism 2011;63(12):3942-51.
2011: Amr H Sawalha; Ayten Yazıcı; Vuslat Yılmaz; Kenan Aksu; Marta E Alarcón-Riquelme; Bruno Casali; Ayse Cefle; Haner Direskeneli; Andaç Ergen; Travis Hughes; Gokhan Keser; Ajay Nadig; Carlo Salvarani; Güher Saruhan-Direskeneli
A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's disease.
Arthritis and rheumatism 2011;63(11):3607-12.
2011: Elena Sánchez; Betty P Tsao; Luis M Vilá; Timothy J Vyse; Graciela S Alarcón; Marta E Alarcón-Riquelme; Elizabeth E Brown; Mary E Comeau; Jeffrey C Edberg; Barry I Freedman; Patrick M Gaffney; Gary S Gilkeson; John B Harley; Chaim O Jacob; Judith A James; Diane L Kamen; Kenneth M Kaufman; Jennifer A Kelly; Robert P Kimberly; Carl D Langefeld; Joan T Merrill; Timothy B Niewold; Michelle Petri; Rosalind Ramsey-Goldman; John D Reveille; Bruce C Richardson; Amr H Sawalha
Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.
Arthritis and rheumatism 2011;63(11):3493-501.
2011: Paula S Ramos; Rosalind Ramsey-Goldman; John D Reveille; Betty P Tsao; Luis M Vilá; Timothy J Vyse; Adrienne H Williams; Raphael Zidovetzki; Julie T Ziegler; Michelle Petri; Graciela S Alarcón; Marta E Alarcón-Riquelme; Elizabeth E Brown; Mary E Comeau; Lindsey A Criswell; Jeffrey C Edberg; Patrick M Gaffney; Deborah Cunninghame Graham; Robert R Graham; Richard T Guy; John B Harley; Chaim O Jacob; Kenneth M Kaufman; Jennifer A Kelly; Robert P Kimberly; Carl D Langefeld; Christopher J Lessard; He Li; Gerald McGwin; Kathy L Moser
Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus.
Arthritis and rheumatism 2011;63(7):2049-57.
2011: Travis Hughes; Xana Kim-Howard; Jennifer A Kelly; Kenneth M Kaufman; Carl D Langefeld; Julie Ziegler; Elena Sanchez; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Javier Martín; Elizabeth E Brown; Luis M Vilá; Graciela S Alarcón; Judith A James; Gary S Gilkeson; Kathy L Moser; Patrick M Gaffney; Joan T Merrill; Timothy J Vyse; Marta E Alarcón-Riquelme; Swapan K Nath; John B Harley; Amr H Sawalha
Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21.
Arthritis and rheumatism 2011;63(6):1689-97.
2011: Sharon A Chung; Kimberly E Taylor; Robert R Graham; Joanne Nititham; Annette T Lee; Ward A Ortmann; Chaim O Jacob; Marta E Alarcón-Riquelme; Betty P Tsao; John B Harley; Patrick M Gaffney; Kathy L Moser; Michelle Petri; F Yesim Demirci; M Ilyas Kamboh; Susan Manzi; Peter K Gregersen; Carl D Langefeld; timothy wayne behrens; Lindsey A Criswell
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
PLoS genetics 2011;7(3):e1001323.
2011: Kimberly E Taylor; Sharon A Chung; Robert R Graham; Ward A Ortmann; Annette T Lee; Carl D Langefeld; Chaim O Jacob; M Ilyas Kamboh; Marta E Alarcón-Riquelme; Betty P Tsao; Kathy L Moser; Patrick M Gaffney; John B Harley; Michelle Petri; Susan Manzi; Peter K Gregersen; timothy wayne behrens; Lindsey A Criswell
Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
PLoS genetics 2011;7(2):e1001311.
2011: Ryan Webb; Jennifer A Kelly; Emily Somers; Travis Hughes; Kenneth M Kaufman; Elena Sanchez; Swapan K Nath; Gail R Bruner; Marta E Alarcón-Riquelme; Gary S Gilkeson; Diane L Kamen; Bruce C Richardson; John B Harley; Amr H Sawalha
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 2011;70(1):151-6.
2010: Angélica Delgado-Vega; Elena Sanchez; Sara Löfgren; Casimiro Castillejo-López; Marta E Alarcón-Riquelme
Recent findings on genetics of systemic autoimmune diseases.
Current opinion in immunology 2010;22(6):698-705.
2010: Elena Sanchez; Ryan D Webb; Astrid Rasmussen; Jennifer A Kelly; Laura Riba; Kenneth M Kaufman; Ignacio Garcia-De la Torre; Jose F Moctezuma; Marco A Maradiaga-Ceceña; Mario H Cardiel-Rios; Eduardo Acevedo; Mariano Cucho-Venegas; Mercedes A Garcia; Susana Gamron; Bernardo A Pons-Estel; Carlos Vasconcelos; Javier Martin; Teresa Tusié-Luna; John B Harley; Bruce C Richardson; Amr H Sawalha; Marta E Alarcón-Riquelme
Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.
Arthritis and rheumatism 2010;62(12):3722-9.
2010: Sara E Löfgren; Angelica Maria Delgado-Vega; Caroline J Gallant; Elena Sanchez; Johan Frostegård; Lennart Truedsson; Enrique de Ramón Garrido; José M Sabio; María Francisca González-Escribano; Bernardo A Pons-Estel; Sandra D'Alfonso; Torsten Witte; Bernard R Lauwerys; Emoke Endreffy; László Kovács; Carlos Vasconcelos; Berta Martins da Silva; Javier Martín; Marta E Alarcón-Riquelme; Sergey V Kozyrev
A 3'-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus.
Arthritis and rheumatism 2010;62(11):3404-14.
2010: Helga Kristjansdottir; Kristjan Steinsson; Iva Gunnarsson; Gerdur Gröndal; Kristjan Erlendsson; Marta E Alarcón-Riquelme
Lower expression levels of the programmed death 1 receptor on CD4+CD25+ T cells and correlation with the PD-1.3A genotype in patients with systemic lupus erythematosus.
Arthritis and rheumatism 2010;62(6):1702-11.
2010: Micaela Fredi; Angela Tincani; Hong Yin; Angelica Maria Delgado-Vega; Maria Orietta Borghi; Pier-Luigi Meroni; Marta E Alarcón-Riquelme
IRF5 is associated with primary antiphospholipid syndrome, but is not a major risk factor.
Arthritis and rheumatism 2010;62(4):1201-2.
2010: Sara E Löfgren; Hong Yin; Angelica Maria Delgado-Vega; Elena Sanchez; Susanna Lewén; Bernardo A Pons-Estel; Torsten Witte; Sandra D'Alfonso; Norberto Ortego Centeno; Javier Martin; Marta E Alarcón-Riquelme; Sergey V Kozyrev
Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.
The Journal of rheumatology 2010;37(3):574-8.
2010: Angelica Maria Delgado-Vega; Marta E Alarcón-Riquelme; Sergey V Kozyrev
Genetic associations in type I interferon related pathways with autoimmunity.
Arthritis research & therapy 2010;12 Suppl 1():S2.
2009: A-K Abelson; Angelica Maria Delgado-Vega; Sergey V Kozyrev; Elena Sanchez; Rafael Velázquez-Cruz; N Eriksson; J Wojcik; M V P Linga Reddy; Guadalupe Lima; Sandra D'Alfonso; Sergio Migliaresi; Vicente Baca; L Orozco; T Witte; Norberto Ortego Centeno; H Abderrahim; Bernardo A Pons-Estel; C Gutiérrez; A Suárez; María Francisca González-Escribano; J Martin; Marta E Alarcón-Riquelme
STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk.
Annals of the rheumatic diseases 2009;68(11):1746-53.
2009: Elena Sánchez; Rogelio J Palomino-Morales; Norberto Ortego Centeno; Juan Jiménez-Alonso; Miguel A González-Gay; Miguel A López-Nevot; Julio Sánchez Román; Enrique de Ramón; María Francisca González-Escribano; Bernardo A Pons-Estel; Sandra D'Alfonso; Gian Domenico Sebastiani; Marta E Alarcón-Riquelme; Javier Martín
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.
Human molecular genetics 2009;18(19):3739-48.
2009: Sharon A Chung; Chao Tian; Kimberly E Taylor; Annette T Lee; Ward A Ortmann; Geoffrey Hom; Robert R Graham; Joanne Nititham; Jennifer A Kelly; Jean Morrisey; Hui Wu; Hong Yin; Marta E Alarcón-Riquelme; Betty P Tsao; John B Harley; Patrick M Gaffney; Kathy L Moser; Susan Manzi; Michelle Petri; Peter K Gregersen; Carl D Langefeld; timothy wayne behrens; Michael F Seldin; Lindsey A Criswell
European population substructure is associated with mucocutaneous manifestations and autoantibody production in systemic lupus erythematosus.
Arthritis and rheumatism 2009;60(8):2448-56.
2009: Hong Yin; Maria Orietta Borghi; Angelica Maria Delgado-Vega; Angela Tincani; Pier-Luigi Meroni; Marta E Alarcón-Riquelme
Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome.
Arthritis and rheumatism 2009;60(8):2468-71.
2009: Ryan Webb; Joan T Merrill; Jennifer A Kelly; Andrea Sestak; Kenneth M Kaufman; Carl D Langefeld; Julie Ziegler; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Graciela S Alarcón; Luis M Vilá; Marta E Alarcón-Riquelme; Judith A James; Gary S Gilkeson; Chaim O Jacob; Kathy L Moser; Patrick M Gaffney; Timothy J Vyse; Swapan K Nath; Peter Lipsky; John B Harley; Amr H Sawalha
A polymorphism within IL21R confers risk for systemic lupus erythematosus.
Arthritis and rheumatism 2009;60(8):2402-7.
2009: Ryan Webb; Jonathan Wren; Matlock Jeffries; Jennifer A Kelly; Kenneth M Kaufman; Yuhong Tang; Mark Barton Frank; Joan Merrill; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Graciela S Alarcón; Luis M Vilá; Marta E Alarcón-Riquelme; Judith A James; Timothy J Vyse; Kathy L Moser; Patrick M Gaffney; Gary S Gilkeson; John B Harley; Amr H Sawalha
Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
Arthritis and rheumatism 2009;60(4):1076-84.
2009: Angelica Maria Delgado-Vega; A-K Abelson; Elena Sanchez; T Witte; Sandra D'Alfonso; Mauro Galeazzi; J Jiménez-Alonso; Bernardo A Pons-Estel; J Martin; Marta E Alarcón-Riquelme
Replication of the TNFSF4 (OX40L) promoter region association with systemic lupus erythematosus.
Genes and immunity 2009;10(3):248-53.
2009: Shizhong Han; Xana Kim-Howard; Harshal Deshmukh; Yoichiro Kamatani; Parvathi Viswanathan; Guthridge Joel; Kenaz Thomas; Kenneth M Kaufman; Joshua Ojwang; Adriana Rojas-Villarraga; Vicente Baca; Lorena Orozco; Benjamin Rhodes; Chan-Bum Choi; Peter K Gregersen; Joan T Merrill; Judith A James; Patrick M Gaffney; Kathy L Moser; Chaim O Jacob; Robert P Kimberly; John B Harley; Sang-Cheol Bae; Juan-Manuel Anaya; Marta E Alarcón-Riquelme; Koichi Matsuda; Timothy J Vyse; Swapan K Nath
Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
Human molecular genetics 2009;18(6):1171-80.
2009: Gisela Orozco; Anna-Karin Abelson; Miguel A González-Gay; Alejandro Balsa; Dora Pascual-Salcedo; Antonio García; Benjamín Fernández-Gutierrez; Ingemar F Petersson; Bernardo Pons-Estel; Alicia Eimon; Sergio Paira; Hugo R Scherbarth; Marta E Alarcón-Riquelme; Javier Martín
Study of functional variants of the BANK1 gene in rheumatoid arthritis.
Arthritis and rheumatism 2009;60(2):372-9.
2008: Helga Kristjansdottir; Saedis Saevarsdottir; Gerdur Gröndal; Marta E Alarcón-Riquelme; Kristjan Erlendsson; Helgi Valdimarsson; Kristjan Steinsson
Association of three systemic lupus erythematosus susceptibility factors, PD-1.3A, C4AQ0, and low levels of mannan-binding lectin, with autoimmune manifestations in Icelandic multicase systemic lupus erythematosus families.
Arthritis and rheumatism 2008;58(12):3865-72.
2008: Gisela Orozco; Behrooz Alizadeh; Angelica Maria Delgado-Vega; Miguel A González-Gay; Alejandro Balsa; Dora Pascual-Salcedo; Benjamín Fernández-Gutierrez; María Francisca González-Escribano; Ingemar F Petersson; Piet L C M van Riel; Pilar Barrera; Marieke Coenen; Timothy Radstake; Miek A van Leeuwen; Cisca Wijmenga; Bobby P C Koeleman; Marta E Alarcón-Riquelme; Javier Martín
Association of STAT4 with rheumatoid arthritis: a replication study in three European populations.
Arthritis and rheumatism 2008;58(7):1974-80.
2008: Fabio O Sánchez; M V Prasad Linga Reddy; Lotus Mallbris; Kazuko Sakuraba; Mona Ståhle; Marta E Alarcón-Riquelme
IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.
The Journal of investigative dermatology 2008;128(7):1704-9.
2008: Sergey V Kozyrev; Anna-Karin Abelson; Jerome Wojcik; Ammar Zaghlool; Mv Prasad Linga Reddy; Elena Sanchez; Iva Gunnarsson; Elisabet Svenungsson; Gunnar Sturfelt; Andreas Jönsen; Lennart Truedsson; Bernardo A Pons-Estel; Torsten Witte; Sandra D'Alfonso; Nadia Barrizzone; Maria Giovanna Danieli; Carmen Gutierrez; Ana Suarez; Peter Junker; Henrik K Laustrup; Maria Francisca González-Escribano; Javier Martin; Hadi Abderrahim; Marta E Alarcón-Riquelme
Corrigendum: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Nature genetics 2008;40(4):484.
2008: Swapan K Nath; Shizhong Han; Xana R Kim-Howard; Jennifer A Kelly; Parvathi Viswanathan; Gary S Gilkeson; Wei Chen; Cheng Zhu; Rodger P McEver; Robert P Kimberly; Marta E Alarcón-Riquelme; Timothy J Vyse; Quan-Zhen Li; Edward K Wakeland; Joan T Merrill; Judith A James; Kenneth M Kaufman; Guthridge Joel; John B Harley
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.
Nature genetics 2008;40(2):152-4.
2008: Sergey V Kozyrev; Anna-Karin Abelson; Jerome Wojcik; Ammar Zaghlool; M V Prasad Linga Reddy; Elena Sanchez; Iva Gunnarsson; Elisabet Svenungsson; Gunnar Sturfelt; Andreas Jönsen; Lennart Truedsson; Bernardo A Pons-Estel; Torsten Witte; Sandra D'Alfonso; Nadia Barizzone; Nadia Barrizzone; Maria Giovanna Danieli; Carmen Gutierrez; Ana Suarez; Peter Junker; Henrik K Laustrup; María Francisca González-Escribano; Javier Martin; Hadi Abderrahim; Marta E Alarcón-Riquelme
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Nature genetics 2008;40(2):211-6.
2008: John B Harley; Marta E Alarcón-Riquelme; Lindsey A Criswell; Chaim O Jacob; Robert P Kimberly; Kathy L Moser; Betty P Tsao; Timothy J Vyse; Carl D Langefeld; Swapan K Nath; Guthridge Joel; Beth L Cobb; Daniel B Mirel; Miranda C Marion; Adrienne H Williams; Jasmin Divers; Wei Wang; Summer G Frank; Bahram Namjou; Stacey B Gabriel; Annette T Lee; Peter K Gregersen; timothy wayne behrens; Kimberly E Taylor; Michelle Fernando; Raphael Zidovetzki; Patrick M Gaffney; Jeffrey C Edberg; John D Rioux; Joshua O Ojwang; Judith A James; Joan T Merrill; Gary S Gilkeson; Michael F Seldin; Hong Yin; Emily C Baechler; Quan-Zhen Li; Edward K Wakeland; Gail R Bruner; Kenneth M Kaufman; Jennifer A Kelly
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
Nature genetics 2008;40(2):204-10.
2008: Amr H Sawalha; Ryan Webb; Shizhong Han; Jennifer A Kelly; Kenneth M Kaufman; Robert P Kimberly; Marta E Alarcón-Riquelme; Judith A James; Timothy J Vyse; Gary S Gilkeson; Chan-Bum Choi; R Hal Scofield; Sang-Cheol Bae; Swapan K Nath; John B Harley
Common variants within MECP2 confer risk of systemic lupus erythematosus.
PloS one 2008;3(3):e1727.
2007: M V Prasad Linga-Reddy; Iva Gunnarsson; Elisabet Svenungsson; Gunnar Sturfelt; Andreas Jönsen; Lennart Truedsson; Gunnel Nordmark; Lars Rönnblom; Marta E Alarcón-Riquelme
A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus.
Tissue antigens 2007;70(5):412-4.
2007: Marta E Alarcón-Riquelme
Recent advances in the genetics of autoimmune diseases.
Annals of the New York Academy of Sciences 2007;1110():1-9.
2007: Elena Sánchez; Anna-Karin Abelson; José Mario Sabio; Miguel A González-Gay; Norberto Ortego Centeno; Juan Jiménez-Alonso; Enrique de Ramón; Julio Sánchez Román; Miguel A López-Nevot; Iva Gunnarsson; Elisabet Svenungsson; Gunnar Sturfelt; Lennart Truedsson; Andreas Jönsen; María Francisca González-Escribano; Torsten Witte; Marta E Alarcón-Riquelme; Javier Martín
Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus.
Arthritis and rheumatism 2007;56(9):3080-6.
2007: M V Prasad Linga Reddy; Rafael Velázquez-Cruz; Vicente Baca; Guadalupe Lima; Julio Granados; Lorena Orozco; Marta E Alarcón-Riquelme
Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans.
Human genetics 2007;121(6):721-7.
2007: Sergey V Kozyrev; Susanna Lewén; Prasad M V Linga Reddy; Bernardo A Pons-Estel; Torsten Witte; Peter Junker; Henrik K Laustrup; Carmen Gutiérrez; Ana Suárez; Maria Francisca González-Escribano; Javier Martín; Marta E Alarcón-Riquelme
Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.
Arthritis and rheumatism 2007;56(4):1234-41.
2007: A K Abelson; Cecilia M Johansson; Sergey V Kozyrev; Helga Kristjansdottir; Iva Gunnarsson; Elisabet Svenungsson; Andreas Jönsen; Guadalupe Lima; Hugo R Scherbarth; Susana Gamron; A Allievi; Simon A Palatnik; Alejandro Alvarellos; Sergio Paira; C Graf; C Guillerón; Luis Catoggio; C Prigione; C G Battagliotti; Guillermo A Berbotto; Mercedes A García; Carlos E Perandones; Lennart Truedsson; Kristjan Steinsson; Gunnar Sturfelt; Bernardo A Pons-Estel; Marta E Alarcón-Riquelme
No evidence of association between genetic variants of the PDCD1 ligands and SLE.
Genes and immunity 2007;8(1):69-74.
2006: Blanca Rueda; M V Prasad Linga Reddy; Miguel A González-Gay; Alejandro Balsa; Dora Pascual-Salcedo; Ingemar F Petersson; Alicia Eimon; Sergio Paira; Hugo R Scherbarth; Bernardo A Pons-Estel; María Francisca González-Escribano; Marta E Alarcón-Riquelme; Javier Martín
Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.
Arthritis and rheumatism 2006;54(12):3815-9.
2006: Gisela Orozco; Gema Robledo; M V P Linga Reddy; A García; Dora Pascual-Salcedo; Alejandro Balsa; Miguel A González-Gay; A Eimon; Sergio Paira; Hugo R Scherbarth; Bernardo A Pons-Estel; I F Petersson; Marta E Alarcón-Riquelme; Javier Martín
Study of the role of a functional polymorphism of MHC2TA in rheumatoid arthritis in three ethnically different populations.
Rheumatology (Oxford, England) 2006;45(11):1442-4.
2006: Paola Forabosco; Jennifer D Gorman; C Cleveland; Jennifer A Kelly; Sheila A Fisher; Ward A Ortmann; C Johansson; Bo Johanneson; Kathy L Moser; Patrick M Gaffney; B P Tsao; R M Cantor; Marta E Alarcón-Riquelme; timothy wayne behrens; John B Harley; Cathryn M Lewis; Lindsey A Criswell
Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus.
Genes and immunity 2006;7(7):609-14.
2006: Marta E Alarcón-Riquelme
The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility.
Springer seminars in immunopathology 2006;28(2):109-17.
2006: Anna M Bennet; Marta E Alarcón-Riquelme; Björn Wiman; Ulf de Faire; Ludmila Prokunina-Olsson
Decreased risk for myocardial infarction and lower tumor necrosis factor-alpha levels in carriers of variants of the PDCD1 gene.
Human immunology 2006;67(9):700-5.
2006: Cecilia M Johansson; H Kristjánsdottir; Gerdur Gröndal; Kristjan Steinsson; Marta E Alarcón-Riquelme
Characterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13.
Scandinavian journal of immunology 2006;64(3):308-13.
2006: Marta E Alarcón-Riquelme
Nucleic acid by-products and chronic inflammation.
Nature genetics 2006;38(8):866-7.
2006: Gisela Orozco; Elena Sánchez; Luis Miguel Gómez; Miguel A González-Gay; Miguel A López-Nevot; Belén Torres; Norberto Ortego Centeno; Juan Jiménez-Alonso; Enrique de Ramón; Julio Sánchez Román; Juan-Manuel Anaya; Gunnar Sturfelt; Iva Gunnarsson; E Svennungsson; Marta E Alarcón-Riquelme; María Francisca González-Escribano; Javier Martín
Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus.
Annals of the rheumatic diseases 2006;65(6):791-5.
2006: Robert R Graham; Sergey V Kozyrev; Emily C Baechler; M V Prasad Linga Reddy; Robert M Plenge; Jason W Bauer; Ward A Ortmann; Thearith Koeuth; María Francisca González-Escribano; Bernardo A Pons-Estel; Michelle Petri; Mark J Daly; Peter K Gregersen; Javier Martín; David Altshuler; timothy wayne behrens; Marta E Alarcón-Riquelme
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
Nature genetics 2006;38(5):550-5.
2005: M V Prasad Linga Reddy; M Johansson; Gunnar Sturfelt; Andreas Jönsen; Iva Gunnarsson; Elisabet Svenungsson; Solbritt Rantapää-Dahlqvist; Marta E Alarcón-Riquelme
The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1.
Genes and immunity 2005;6(8):658-62.
2005: Maria Andrén; Bo Johanneson; Marta E Alarcón-Riquelme; Sandra Kleinau
IgG Fc receptor polymorphisms and association with autoimmune disease.
European journal of immunology 2005;35(10):3020-9.
2005: Kristjan Steinsson; Marta E Alarcón-Riquelme
Genetic aspects of rheumatic diseases.
Scandinavian journal of rheumatology 2005;34(3):167-77.
2005: Marta E Alarcón-Riquelme
The genetics of shared autoimmunity.
Autoimmunity 2005;38(3):205-8.
2005: Donato Alarcón-Segovia; Marta E Alarcón-Riquelme; Mario H Cardiel; Francisco Caeiro; Loreto Massardo; Antonio R Villa; Bernardo A Pons-Estel
Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort.
Arthritis and rheumatism 2005;52(4):1138-47.
2005: Eric Kai-Pang Kong; Ludmila Prokunina-Olsson; Wong Wilfred; Chak Sing Lau; Tak Mao Chan; Marta E Alarcón-Riquelme; Yu-Lung Lau
A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese.
Arthritis and rheumatism 2005;52(4):1058-62.
2005: Marta E Alarcón-Riquelme
The genetics of systemic lupus erythematosus.
Journal of autoimmunity 2005;25 Suppl():46-8.
2004: Cecilia M Johansson; Renata Zunec; Mercedes A García; Hugo R Scherbarth; Guillermo A Tate; Sergio Paira; Sandra M Navarro; Carlos E Perandones; Susana Gamron; Alejandro Alvarellos; Cesar E Graf; Jorge Manni; Guillermo A Berbotto; Simon A Palatnik; Luis Catoggio; Cristina G Battagliotti; gian domenico sebastiani; Sergio Migliaresi; Mauro Galeazzi; Bernardo A Pons-Estel; Marta E Alarcón-Riquelme
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus.
Human genetics 2004;115(3):230-8.
2004: Ludmila Prokunina-Olsson; Leonid Padyukov; Anna Bennet; Ulf de Faire; Björn Wiman; Jonathan Prince; Lars Alfredsson; Lars Klareskog; Marta E Alarcón-Riquelme
Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope.
Arthritis and rheumatism 2004;50(6):1770-3.
2004: Ludmila Prokunina-Olsson; Marta E Alarcón-Riquelme
Regulatory SNPs in complex diseases: their identification and functional validation.
Expert reviews in molecular medicine 2004;6(10):1-15.
2004: Veronica Magnusson; Renata Zunec; J Odeberg; Gunnar Sturfelt; Lennart Truedsson; Iva Gunnarsson; Marta E Alarcón-Riquelme
Polymorphisms of the Fc gamma receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population.
Arthritis and rheumatism 2004;50(4):1348-50.
2004: Veronica Magnusson; Bo Johanneson; Guadalupe Lima; J Odeberg; Donato Alarcón-Segovia; Marta E Alarcón-Riquelme
Both risk alleles for FcgammaRIIA and FcgammaRIIIA are susceptibility factors for SLE: a unifying hypothesis.
Genes and immunity 2004;5(2):130-7.
2004: Marta E Alarcón-Riquelme
Role of RUNX in autoimmune diseases linking rheumatoid arthritis, psoriasis and lupus.
Arthritis research & therapy 2004;6(4):169-73.
2004: Ludmila Prokunina-Olsson; Iva Gunnarsson; Gunnar Sturfelt; Lennart Truedsson; Victoria A Seligman; Jean L Olson; Michael F Seldin; Lindsey A Criswell; Marta E Alarcón-Riquelme
The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis.
Arthritis and rheumatism 2004;50(1):327-8.
2003: Marta E Alarcón-Riquelme
A RUNX trio with a taste for autoimmunity.
Nature genetics 2003;35(4):299-300.
2003: Marta E Alarcón-Riquelme; Ludmila Prokunina-Olsson
Finding genes for SLE: complex interactions and complex populations.
Journal of autoimmunity 2003;21(2):117-20.
2003: Marta E Alarcón-Riquelme
Functional genomics in the study of autoimmune diseases.
Autoimmunity reviews 2003;2(4):177-80.
2003: Anne Isine Bolstad; Hans Geir Eiken; Benedikte Rosenlund; Marta E Alarcón-Riquelme; Roland Jonsson
Increased salivary gland tissue expression of Fas, Fas ligand, cytotoxic T lymphocyte-associated antigen 4, and programmed cell death 1 in primary Sjögren's syndrome.
Arthritis and rheumatism 2003;48(1):174-85.
2002: Ludmila Prokunina-Olsson; Casimiro Castillejo-López; Fredrik Oberg; Iva Gunnarsson; Louise Berg; Veronica Magnusson; Anthony J Brookes; Dmitry Tentler; Helga Kristjansdóttir; Gerdur Gröndal; Anne Isine Bolstad; Elisabet Svenungsson; Ingrid Lundberg; Gunnar Sturfelt; Andreas Jönssen; Lennart Truedsson; Guadalupe Lima; Jorge Alcocer-Varela; Roland Jonsson; Ulf Gyllensten; John B Harley; Donato Alarcón-Segovia; Kristjan Steinsson; Marta E Alarcón-Riquelme
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
Nature genetics 2002;32(4):666-9.
2002: Bo Johanneson; Guadalupe Lima; Jenny von Salomé; Donato Alarcón-Segovia; Marta E Alarcón-Riquelme
A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31.
American journal of human genetics 2002;71(5):1060-71.
2002: Ann-Cathrine Johansson; Britt Nakken; Martin Sundler; Anna-Karin B Lindqvist; Martina Johannesson; Marta E Alarcón-Riquelme; Anne Isine Bolstad; Michael G Humphreys-Beher; Roland Jonsson; Kathrine Skarstein; Rikard Holmdahl
The genetic control of sialadenitis versus arthritis in a NOD.QxB10.Q F2 cross.
European journal of immunology 2002;32(1):243-50.
2001: Veronica Magnusson; Britt Nakken; Anne Isine Bolstad; Marta E Alarcón-Riquelme
Cytokine polymorphisms in systemic lupus erythematosus and Sjögren's syndrome.
Scandinavian journal of immunology 2001;54(1-2):55-61.
2001: Ann-Cathrine Johansson; Martin Sundler; P Kjellén; Martina Johannesson; A Cook; Anna-Karin B Lindqvist; Britt Nakken; Anne Isine Bolstad; Roland Jonsson; Marta E Alarcón-Riquelme; Rikard Holmdahl
Genetic control of collagen-induced arthritis in a cross with NOD and C57BL/10 mice is dependent on gene regions encoding complement factor 5 and FcgammaRIIb and is not associated with loci controlling diabetes.
European journal of immunology 2001;31(6):1847-56.
2001: Bo Johanneson; Marta E Alarcón-Riquelme
An update on the genetics of systemic lupus erythematosus.
The Israel Medical Association journal : IMAJ 2001;3(2):88-93.
2000: Veronica Magnusson; Anna-Karin B Lindqvist; Casimiro Castillejo-López; H Kristjánsdottir; Kristjan Steinsson; Gerdur Gröndal; Gunnar Sturfelt; Lennart Truedsson; Elisabet Svenungsson; Ingrid Lundberg; Iva Gunnarsson; Anne Isine Bolstad; Hans-Jacob Haga; Roland Jonsson; Lars Klareskog; Jorge Alcocer-Varela; Donato Alarcón-Segovia; Joseph D Terwilliger; Ulf Gyllensten; Marta E Alarcón-Riquelme
Fine mapping of the SLEB2 locus involved in susceptibility to systemic lupus erythematosus.
Genomics 2000;70(3):307-14.
2000: C Johansson; Casimiro Castillejo-López; Bo Johanneson; Elisabet Svenungsson; Iva Gunnarsson; J Frostegård; Gunnar Sturfelt; Lennart Truedsson; B Löfström; Jorge Alcocer-Varela; Ingrid Lundberg; Ulf Gyllensten; Donato Alarcón-Segovia; Marta E Alarcón-Riquelme
Association analysis with microsatellite and SNP markers does not support the involvement of BCL-2 in systemic lupus erythematosus in Mexican and Swedish patients and their families.
Genes and immunity 2000;1(6):380-5.
2000: Anna-Karin B Lindqvist; Kristjan Steinsson; Bo Johanneson; H Kristjánsdóttir; A Arnasson; Gerdur Gröndal; I Jonasson; Veronica Magnusson; Gunnar Sturfelt; Lennart Truedsson; Elisabet Svenungsson; Ingrid Lundberg; Joseph D Terwilliger; Ulf Gyllensten; Marta E Alarcón-Riquelme
A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q.
Journal of autoimmunity 2000;14(2):169-78.
1999: Anna-Karin B Lindqvist; Marta E Alarcón-Riquelme
The genetics of systemic lupus erythematosus.
Scandinavian journal of immunology 1999;50(6):562-71.
1999: Marta E Alarcón-Riquelme; Anna-Karin B Lindqvist; I Jonasson; Bo Johanneson; S Sandino; Jorge Alcocer-Varela; J Granados; H Kristjánsdóttir; Gerdur Gröndal; Elisabet Svenungsson; Ingrid Lundberg; Kristjan Steinsson; Lars Klareskog; Gunnar Sturfelt; Lennart Truedsson; Donato Alarcón-Segovia; Ulf Gyllensten
Genetic analysis of the contribution of IL10 to systemic lupus erythematosus.
The Journal of rheumatology 1999;26(10):2148-52.
1999: Bo Johanneson; Kristjan Steinsson; Anna-Karin B Lindqvist; H Kristjánsdóttir; Gerdur Gröndal; S Sandino; Fredrik Tjernström; Gunnar Sturfelt; J Granados-Arriola; Jorge Alcocer-Varela; Ingrid Lundberg; I Jonasson; Lennart Truedsson; Elisabet Svenungsson; Lars Klareskog; Donato Alarcón-Segovia; Ulf Gyllensten; Marta E Alarcón-Riquelme
A comparison of genome-scans performed in multicase families with systemic lupus erythematosus from different population groups.
Journal of autoimmunity 1999;13(1):137-41.
1997: C Alvarado; Marta E Alarcón-Riquelme; Jorge Alcocer-Varela; C Fernández
Participation of the Bcl-2 and Fas molecules in experimental apoptosis of spleen B lymphocytes.
Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición 1997;49(3):171-8.
1996: Anna-Karin B Lindqvist; P K Magnusson; Jorune Balciuniene; C Wadelius; Eva Lindholm; Marta E Alarcón-Riquelme; Ulf Gyllensten
Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics.
Genome research 1996;6(12):1170-6.
1991: Jorge Alcocer-Varela; Marta E Alarcón-Riquelme; A Laffón; F Sánchez-Madrid; Donato Alarcón-Segovia
Activation markers on peripheral blood T cells from patients with active or inactive systemic lupus erythematosus. Correlation with proliferative responses and production of IL-2.
Journal of autoimmunity 1991;4(6):935-45.