نتائج البحث - "Lourdes Ortiz-Fernández"

1

دورية أكاديمية

Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci

المؤلفون: Tianlu Li, Lourdes Ortiz-Fernández, Eduardo Andrés-León, Laura Ciudad, Biola M. Javierre, Elena López-Isac, Alfredo Guillén-Del-Castillo, Carmen Pilar Simeón-Aznar, Esteban Ballestar, Javier Martin

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-17 (2020)

مصطلحات موضوعية: Systemic sclerosis, DNA methylation, Epigenetics, Long-distance regulation, Hi-C, Genetic susceptibility variants, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13073-020-00779-6Test; https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/36de1b17ae30464c8c717b20a2be3b48Test

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النص الكامل

2

دورية أكاديمية

1507 The relationship between DNA methylation patterns and disease activity in a longitudinal multi-ancestral cohort of lupus patients

المؤلفون: Patrick Coit, Amr H Sawalha, Kathleen Maksimowicz-McKinnon, Lourdes Ortiz-Fernández, Emily E Lewis, W Joseph McCune

المصدر: Lupus Science and Medicine, Vol 8, Iss Suppl 2 (2021)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2053-8790Test

الوصول الحر: https://doaj.org/article/6dce7ca4c0f54daf95b51aa0a50ca848Test

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النص الكامل

3

دورية أكاديمية

Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability

المؤلفون: Lourdes Ortiz-Fernández, Amr H. Sawalha

المصدر: Frontiers in Medicine, Vol 8 (2021)

مصطلحات موضوعية: Behçet's disease, genetics, heritability, genetic risk score, epigenetic, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2021.625710/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/abc55c7493a24d9d9db2763c38a4b9e2Test

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النص الكامل

4

دورية أكاديمية

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/a17410930c33440f8760e7431d185c48Test

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النص الكامل

5

دورية أكاديمية

Monogenic Lupus: A Developing Paradigm of Disease

المؤلفون: Jessie M. Alperin, Lourdes Ortiz-Fernández, Amr H. Sawalha

المصدر: Frontiers in Immunology, Vol 9 (2018)

مصطلحات موضوعية: lupus, monogenic, familial, genetic, mendelian, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2018.02496/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/3ba3211e25ce4b91a25e49112305e6e1Test

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النص الكامل

6

دورية أكاديمية

Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.

المصدر: PLoS ONE, Vol 11, Iss 8, p e0161305 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4993481?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/cd2a076877dd417cae555c6ef45b7407Test

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النص الكامل

7

دورية أكاديمية

Epistatic interaction of ERAP1 and HLA-B in Behçet disease: a replication study in the Spanish population.

المؤلفون: Marta Conde-Jaldón, Marco Antonio Montes-Cano, José Raul García-Lozano, Lourdes Ortiz-Fernández, Norberto Ortego-Centeno, Rocío González-León, Gerard Espinosa, Genaro Graña-Gil, Juan Sánchez-Bursón, Miguel Angel González-Gay, Ana Celia Barnosi-Marín, Roser Solans, Patricia Fanlo, Mónica Rodríguez Carballeira, Teresa Camps, Santos Castañeda, Javier Martín, María Francisca González-Escribano

المصدر: PLoS ONE, Vol 9, Iss 7, p e102100 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4096596?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/40bb01c3d56f4162a6027a7e46ff5336Test

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النص الكامل

8

دورية أكاديمية

Methylome and transcriptome profiling of giant cell arteritis monocytes reveals novel pathways involved in disease pathogenesis and molecular response to glucocorticoids

المؤلفون: Elkyn Estupiñán-Moreno, Lourdes Ortiz-Fernández, Tianlu Li, Jose Hernández-Rodríguez, Laura Ciudad, Eduardo Andrés-León, Laura Carmen Terron-Camero, Sergio Prieto-González, Georgina Espígol-Frigolé, Maria Cinta Cid, Ana Márquez, Esteban Ballestar, Javier Martín

مصطلحات موضوعية: Giant Cell Arteritis, Glucocorticoids, Immune Complex Diseases, Inflammation

العلاقة: info:eu-repo/grantAgreement/EC/H2020/813545/; pmid:35705375; https://zenodo.org/communities/itn_helicalTest; https://zenodo.org/record/8060922Test; https://doi.org/10.1136/annrheumdis-2022-222156Test; oai:zenodo.org:8060922

الإتاحة: https://doi.org/10.1136/annrheumdis-2022-222156Test
https://zenodo.org/record/8060922Test

View record in BASE

9

Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behcet's Disease

المساهمون: Translational Immunology Groningen (TRIGR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Arthritis & Rheumatology, 73(7), 1244-1252. Wiley
Arthritis Rheumatol

مصطلحات موضوعية: Lipopolysaccharides, Male, 0301 basic medicine, Genome-wide association study, Behcet's disease, VARIANTS, Monocytes, Epigenesis, Genetic, 0302 clinical medicine, BINDING, Immunology and Allergy, Receptors, Interferon, Genetics, education.field_of_study, Behcet Syndrome, Gain of Function Mutation, Intercellular Signaling Peptides and Proteins, DNA, Intergenic, Female, RNA, Long Noncoding, SUSCEPTIBILITY LOCI, Immunology, Population, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Rheumatology, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, RNA, Messenger, GENOME-WIDE ASSOCIATION, education, Genotyping, Genetic association, INTERFERON-GAMMA, IDENTIFICATION, Chromosomes, Human, Pair 10, COMPONENTS, Promoter, medicine.disease, MHC CLASS-I, IL23R-IL12RB2, 030104 developmental biology, Gene Expression Regulation, STATES, Case-Control Studies, Expression quantitative trait loci, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1885e8a8c06b6481dbb2e9db461c81Test
https://doi.org/10.1002/art.41637Test

10

FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis

المؤلفون: Javier Martínez-López, Martin Kerick, Lourdes Ortiz-Fernández, Marialbert Acosta-Herrera, Ana Márquez, Javier Martín

المصدر: Rheumatology (Oxford, England).

مصطلحات موضوعية: Scleroderma, Systemic, Genotype, seropositive immune-mediated diseases, Polymorphism, Single Nucleotide, Autoimmune Diseases, Rheumatology, fms-Like Tyrosine Kinase 3, low-frequency variant, Case-Control Studies, Humans, Pharmacology (medical), Genetic Predisposition to Disease, SSc, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518b58227bee29f4ebdd7c91340d4eb5Test
https://pubmed.ncbi.nlm.nih.gov/35876828Test

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