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Author Details

Lara Bossini-Castillo
Departamento de Genetica e Instituto de Biotecnologia, Universidad de Granada
2010
46
26
Nathan Sheffield (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36828746Sex-specific association of SELL gene polymorphisms with pattern hair loss in the Thai population: A candidate gene association study and in silico functional characterization.J Dermatol Sci2023
37633117Non-classical circulating monocytes expressing high levels of microsomal prostaglandin E2 synthase-1 tag an aberrant IFN-response in systemic sclerosis.J Autoimmun2023
37108375Celiac Disease Is a Risk Factor for Mature T and NK Cell Lymphoma: A Mendelian Randomization Study.Int J Mol Sci2023
35979692Recent advances in elucidating the genetic basis of systemic sclerosis.Curr Opin Rheumatol2022
35610156Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.Reprod Biomed Online2022
35743717Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.J Pers Med2022
35618845Immune disease risk variants regulate gene expression dynamics during CD4<sup>+</sup> T cell activation.Nat Genet2022
36589743Contribution of <i>TEX15</i> genetic variants to the risk of developing severe non-obstructive oligozoospermia.Front Cell Dev Biol2022
36357561Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.Commun Biol2022
36294335The Effect of Body Fat Distribution on Systemic Sclerosis.J Clin Med2022
33004331Genomic Risk Score impact on susceptibility to systemic sclerosis.Ann Rheum Dis2021
32499651A distal enhancer at risk locus 11q13.5 promotes suppression of colitis by T<sub>reg</sub> cells.Nature2020
33383876Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.J Pers Med2020
30793699Histone modifications underlie monocyte dysregulation in patients with systemic sclerosis, underlining the treatment potential of epigenetic targeting.Ann Rheum Dis2019
31672989GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.Nat Commun2019
31211845Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.Hum Mol Genet2019
31548716Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases.Nat Genet2019
31126957Low RUNX3 expression alters dendritic cell function in patients with systemic sclerosis and contributes to enhanced fibrosis.Ann Rheum Dis2019
29293537Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.PLoS One2018
29873782Coloc-stats: a unified web interface to perform colocalization analysis of genomic features.Nucleic Acids Res2018
30356220Gene expression variability across cells and species shapes innate immunity.Nature2018
28556560Association of MicroRNA-618 Expression With Altered Frequency and Activation of Plasmacytoid Dendritic Cells in Patients With Systemic Sclerosis.Arthritis Rheumatol2017
28141915Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort.Arthritis Rheumatol2017
28166213Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.Nat Genet2017
28668810An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis.J Rheumatol2017
27490238Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases.PLoS One2016
26338038Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.Ann Rheum Dis2016
24532677A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.Ann Rheum Dis2015
26212856Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways.J Autoimmun2015
26032405Genetics of systemic sclerosis.Semin Immunopathol2015
25817017A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.Am J Hum Genet2015
25224099HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotyping.J Allergy Clin Immunol2015
24387989Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.Am J Hum Genet2014
25199642Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus.Arthritis Rheumatol2014
24401602A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.Arthritis Res Ther2014
22896740Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.Ann Rheum Dis2013
21905008A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators.Arthritis Rheum2012
23270786KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor.Arthritis Res Ther2012
22531499A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.Arthritis Res Ther2012
22440820IRF5 polymorphism predicts prognosis in patients with systemic sclerosis.Ann Rheum Dis2012
22218928Unraveling the genetic component of systemic sclerosis.Hum Genet2012
22422496Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.J Rheumatol2012
22076442A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.Hum Mol Genet2012
21187296A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort.Ann Rheum Dis2011
21875883Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.Rheumatology (Oxford)2011
21794758[Genetics in scleroderma].Reumatol Clin2010
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Collaborators

Javier Martín
Co-authored papers 32
Timothy R D J Radstake
Co-authored papers 20
Lorenzo Beretta
Scleroderma Clinic, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Co-authored papers 19
Maureen D Mayes
University of Texas McGovern Medical School
Co-authored papers 15
Jane Worthington
Co-authored papers 13
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Wellcome Sanger Institute
Co-authored papers 6
Frank C Arnett
University of Texas McGovern Medical School
Co-authored papers 6
Raffaella Scorza
U.O. Immunologia Clinica-Centro di Riferimento per le Malattie Autoimmuni Sistemiche
Co-authored papers 5
Marieke J H Coenen
Co-authored papers 4
Cisca Wijmenga
Co-authored papers 4
Leonid Padyukov
Co-authored papers 4
John D Reveille
University of Texas
Co-authored papers 3
Peter K Gregersen
Co-authored papers 3
Annette T Lee
Co-authored papers 2
Paola G Bronson
Co-authored papers 2
Maxwell R Mumbach
Broad Institute of MIT and Harvard
Co-authored papers 2
Howard Y Chang
Center for Personal Dynamic Regulomes, Stanford University
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Matthew A Brown
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Andre Franke
Institute of Clinical Molecular Biology, Kiel University
Co-authored papers 2
Ryan M Layer
Boulder and BioFrontiers Institute, University of Colorado Boulder
Co-authored papers 1
David M Evans
Medical Research Council Integrative Epidemiology Unit at the University of Bristol
Co-authored papers 1
Nick Shrine
Co-authored papers 1
Ingo Ruczinski
Co-authored papers 1
Sveinung Gundersen
Center for Bioinformatics, University of Oslo
Co-authored papers 1
Thorarinn Gislason
Landspitali University Hospital
Co-authored papers 1
Jakob B A Crusius
Co-authored papers 1
David J Carey
Geisinger Medical Center
Co-authored papers 1
Giacomo Donati
Universita di Torino
Co-authored papers 1
Jennie Hui
Co-authored papers 1
Robin G Walters
Co-authored papers 1
Release 1.2