Author details

Full Name

Javier MartÃn

Affiliation

ORCID

Career Start Year

1992

Papers

564

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36533991	Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway.		2023
36281738	Identification of Mechanisms by Which Genetic Susceptibility Loci Influence Systemic Sclerosis Risk Using Functional Genomics in Primary T Cells and Monocytes.	Arthritis and Rheumatology	2023
35876828	FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis.	Rheumatology	2023
35749015	A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and SjÃ¶gren's Syndrome.	Clinical Reviews in Allergy and Immunology	2023
37799110	Single-cell multi-omics analysis of COVID-19 patients with pre-existing autoimmune diseases shows aberrant immune responses to infection.		2023
37638008	The complex HLA-E-nonapeptide in BehÃ§et disease.		2023
37633117	Non-classical circulating monocytes expressing high levels of microsomal prostaglandin E2 synthase-1 tag an aberrant IFN-response in systemic sclerosis.	J Autoimmun	2023
37685869	Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?		2023
36912345	Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism.		2023
36797040	Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.	Ann Rheum Dis	2023
35349405	Vascular endothelial growth factor haplotypes are associated with severe ischaemic complications in giant cell arteritis regardless of the disease phenotype.	Clinical and Experimental Rheumatology	2022
35705375	Methylome and transcriptome profiling of giant cell arteritis monocytes reveals novel pathways involved in disease pathogenesis and molecular response to glucocorticoids.	Annals of the Rheumatic Diseases	2022
36357561	Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.	Commun Biol	2022
36233442	IgA Vasculitis: Influence of and Gene Polymorphisms.	Journal of Clinical Medicine	2022
36294335	The Effect of Body Fat Distribution on Systemic Sclerosis.	J Clin Med	2022
36015273	-Omic Approaches and Treatment Response in Rheumatoid Arthritis.	Pharmaceutics	2022
36333501	Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.	Nat Genet	2022
35365635	Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.	Nat Commun	2022
35979692	Recent advances in elucidating the genetic basis of systemic sclerosis.	Curr Opin Rheumatol	2022
35352506	47XXY and 47XXX in Scleroderma and Myositis.	ACR Open Rheumatol	2022
33993232	Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.	Rheumatology (Oxford)	2022
34796384	Correction to: Genetic overlap between type 1 diabetes and other autoimmune diseases.	Seminars in Immunopathology	2022
34595540	Genetic overlap between type 1 diabetes and other autoimmune diseases.	Seminars in Immunopathology	2022
34373564	Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis.	Scientific Reports	2021
34075170	BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis.	Scientific Reports	2021
33539531	A Genome-Wide Association Study Identifies Novel Susceptibility loci in Chronic Chagas Cardiomyopathy.	Clinical Infectious Diseases	2021
33734973	The presence of both HLA-DRB104:01 and HLA-B15:01 increases the susceptibility to cranial and extracranial giant cell arteritis.	Clinical and Experimental Rheumatology	2021
34096881	Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes.	Ann Rheum Dis	2021
34302177	Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population.	Human Molecular Genetics	2021
33301929	HLA association with the susceptibility to anti-synthetase syndrome.	Joint Bone Spine	2021
33004331	Genomic Risk Score impact on susceptibility to systemic sclerosis.	Ann Rheum Dis	2021
33393726	Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With BehÃ§et's Disease.	Arthritis Rheumatol	2021
33381897	HLA-B*08 Identified as the Most Prominently Associated Major Histocompatibility Complex Locus for Anti-Carbamylated Protein Antibody-Positive/Anti-Cyclic Citrullinated Peptide-Negative Rheumatoid Arthritis.	Arthritis Rheumatol	2021
34400693	Author Correction: BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis.	Scientific Reports	2021
34714828	GWAS loci associated with Chagas cardiomyopathy influences DNA methylation levels.	PLoS Neglected Tropical Diseases	2021
33420766	Role of fibroblast growth factor-23 in calcinosis in women with systemic sclerosis.		2020
31640337	Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome.	Korean Journal of Internal Medicine	2020
32130050	Genomic opportunities for drug repositioning in systemic seropositive rheumatic diseases.	Expert Review of Clinical Immunology	2020
32242803	Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis.	Clinical and Experimental Rheumatology	2020
32167874	The role of a functional variant of TYK2 in vasculitides and infections.	Clinical and Experimental Rheumatology	2020
31705548	GNAI2 variants predict nonsteroidal anti-inflammatory drug hypersensitivity in a genome-wide study.	Allergy: European Journal of Allergy and Clinical Immunology	2020
32441646	Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis.	Clinical and Experimental Rheumatology	2020
32492396	Lack of Association of IL6 polymorphism with the susceptibility to Chagas disease in Latin American populations.	Acta Tropica	2020
33317201	Approaching Shared Pathophysiology in Immune-Mediated Diseases through Functional Genomics.	Genes	2020
32977850	Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci.	Genome Medicine	2020
32898759	Cranial and extracranial giant cell arteritis share similar HLA-DRB1 association.	Seminars in Arthritis and Rheumatism	2020
32670294	Identification of a Human Polymorphism That Predicts Rheumatoid Arthritis Severity.	Frontiers in Immunology	2020
32561607	Genome-wide whole blood transcriptome profiling in a large European cohort of systemic sclerosis patients.	Ann Rheum Dis	2020
31044631	Association between Genetic Polymorphisms of Inflammatory Response Genes and Acute Pancreatitis.	Immunological Investigations	2019
31849952	Association of Functional Polymorphisms of KIR3DL1/DS1 With BehÃ§et's Disease.	Frontiers in Immunology	2019