Publications by authors named "Fuencisla Matesanz"

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CD38 deficiency leads to a defective short-lived transcriptomic response to chronic graft-versus-host disease induction, involving purinergic signaling-related genes and distinct transcriptomic signatures associated with lupus.
Mercedes Zubiaur, Laura C Terrón-Camero, Fernando Gordillo-González, Eduardo Andrés-León, Alicia Barroso-Del Jesús, Fuencisla Matesanz

Front Immunol· May 2025

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No evidence for association between rs10191329 severity locus and longitudinal disease severity in 1813 relapse-onset multiple sclerosis patients from the MSBase registry.
Maria Pia Campagna, Eva Kubala Havrdova, Dana Horakova, Guillermo Izquierdo, Fuencisla Matesanz

Mult Scler· August 2024

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Re: Genetics of multiple sclerosis severity: The importance of statistical power in replication studies and Re: From discovery to replication: Power and definitions matter for multiple sclerosis severity.
Maria Pia Campagna, Jeannette Lechner-Scott, Bruce V Taylor, Eva Kubala Havrdova, Fuencisla Matesanz

Mult Scler· August 2024

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Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity.
Vilija G Jokubaitis, Maria Pia Campagna, Omar Ibrahim, Jim Stankovich, Pavlina Kleinova, Fuencisla Matesanz

Brain· June 2023

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Multifaceted Analysis of Cerebrospinal Fluid and Serum from Progressive Multiple Sclerosis Patients: Potential Role of Vitamin C and Metal Ion Imbalance in the Divergence of Primary Progressive Multiple Sclerosis and Secondary Progressive Multiple Sclerosis.
Precious Kwadzo Pomary, Sara Eichau, Núria Amigó, Laura Barrios, Fuencisla Matesanz

J Proteome Res· March 2023

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Polymorphisms in and Are Not Associated with Multiple Sclerosis in Spanish Population.
Isabel de Rojas, César Martin-Montero, Maria Fedetz, Adela González-Jiménez, Fuencisla Matesanz

Biology (Basel)· September 2022

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Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.
Antonio Alcina, Maria Fedetz, Isabel Vidal-Cobo, Eduardo Andrés-León, Maria-Isabel García-Sánchez, Fuencisla Matesanz

Hum Mol Genet· July 2022

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Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.
Adela González-Jiménez, Pilar López-Cotarelo, Teresa Agudo-Jiménez, Ignacio Casanova, Carlos López de Silanes, Fuencisla Matesanz

Int J Mol Sci· July 2022

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Predictive factors and early biomarkers of response in multiple sclerosis patients treated with natalizumab.
Maria Inmaculada Dominguez-Mozo, Silvia Perez-Perez, Luisa María Villar, Begoña Oliver-Martos, Noelia Villarrubia, Fuencisla Matesanz

Sci Rep· August 2020

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Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.
Elia Gil-Varea, Nino Spataro, Luisa María Villar, Amalia Tejeda-Velarde, Luciana Midaglia, Fuencisla Matesanz

Hum Mutat· July 2020

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NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients.
Sunny Malhotra, Carme Costa, Herena Eixarch, Christian W Keller, Lukas Amman, Fuencisla Matesanz

Brain· May 2020

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A New Risk Variant for Multiple Sclerosis at 11q23.3 Is Associated with Expansion of Circulating Regulatory T Cells.
Elia Gil-Varea, Maria Fedetz, Herena Eixarch, Nino Spataro, Luisa María Villar, Fuencisla Matesanz

J Clin Med· February 2020

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The Rare Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis.
Paloma Gómez-Fernández, Aitzkoa Lopez de Lapuente Portilla, Ianire Astobiza, Jorge Mena, Andoni Urtasun, Fuencisla Matesanz

Cells· January 2020

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Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression.
Iván Pérez-Núñez, Mohamad Karaky, María Fedetz, Cristina Barrionuevo, Guillermo Izquierdo, Fuencisla Matesanz

Eur J Hum Genet· December 2019

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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Carles Vilariño-Güell, Alexander Zimprich, Filippo Martinelli-Boneschi, Bruno Herculano, Zhe Wang, Fuencisla Matesanz

PLoS Genet· June 2019

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SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.
Mohamad Karaky, María Fedetz, Victor Potenciano, Eduardo Andrés-León, Anna Esteve Codina, Fuencisla Matesanz

Hum Mol Genet· December 2018

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Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.
Elia Gil-Varea, Elena Urcelay, Carles Vilariño-Güell, Carme Costa, Luciana Midaglia, Fuencisla Matesanz

J Neuroinflammation· September 2018

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A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria.
Fuencisla Matesanz, María Fedetz, Cristina Barrionuevo, Mohamad Karaky, Antonio Catalá-Rabasa

Eur J Hum Genet· November 2016

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The multiple sclerosis-associated regulatory variant rs10877013 affects expression of CYP27B1 and VDR under inflammatory or vitamin D stimuli.
Mohamad Karaky, Antonio Alcina, María Fedetz, Cristina Barrionuevo, Victor Potenciano, Fuencisla Matesanz

Mult Scler· July 2016

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Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
A Dessa Sadovnick, Anthony L Traboulsee, Cecily Q Bernales, Jay P Ross, Amanda L Forwell, Fuencisla Matesanz

G3 (Bethesda)· July 2016

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Influence of the LILRA3 Deletion on Multiple Sclerosis Risk: Original Data and Meta-Analysis.
Miguel A Ortiz, Concepción Núñez, David Ordóñez, José C Alvarez-Cermeño, José E Martínez-Rodriguez, Fuencisla Matesanz

PLoS One· May 2016

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A comparison of genomic profiles of complex diseases under different models.
Víctor Potenciano, María Mar Abad-Grau, Antonio Alcina, Fuencisla Matesanz

BMC Med Genomics· January 2016

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Genome-wide significant association with seven novel multiple sclerosis risk loci.
Christina M Lill, Felix Luessi, Antonio Alcina, Ekaterina A Sokolova, Nerea Ugidos, Fuencisla Matesanz

J Med Genet· December 2015

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A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.
Fuencisla Matesanz, Victor Potenciano, Maria Fedetz, Priscila Ramos-Mozo, María del Mar Abad-Grau

Hum Mol Genet· October 2015

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A new risk variant for multiple sclerosis at the immunoglobulin heavy chain locus associates with intrathecal IgG, IgM index and oligoclonal bands.
Mercedes Delgado-García, Fuencisla Matesanz, Antonio Alcina, María Fedetz, María Isabel García-Sánchez

Mult Scler· August 2015

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