Trabajos de Fuencisla Matesanz Del Barrio
Trabajos de Nombre
Molecular Biology & Genetics
Listando 5 trabajos del autor/autora 37
Lista de trabajos en el área Molecular Biology & Genetics
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Article
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease
Vilarino-Guell, Carles; Zimprich, Alexander; Martinelli-Boneschi, Filippo; Herculano, Bruno; Wang, Zhe; Matesanz, Fuencisla; Urcelay, Elena; Vandenbroeck, Koen; Leyva, Laura; Gris, Denis; Massaad, Charbel; Quandt, Jacqueline A.; Traboulsee, Anthony L.; Enc
PLOS GENETICS
1553-7390 (2019)
DOI /
10.1371/journal.pgen.1008180
Gold other, Green published
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2
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SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-kappa B inhibition
Karaky, Mohamad; Fedetz, Maria; Potenciano, Victor; Andres-Leon, Eduardo; Esteve Codina, Anna; Barrionuevo, Cristina; Alcina, Antonio; Matesanz, Fuencisla
HUMAN MOLECULAR GENETICS
0964-6906 (2018)
DOI /
10.1093/hmg/ddy284
Bronze
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2
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The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1,-2 and-3 and Is Associated with Risk for Multiple Sclerosis
Gomez-Fernandez, Paloma; de Lapuente Portilla, Aitzkoa Lopez; Astobiza, Ianire; Mena, Jorge; Urtasun, Andoni; Altmann, Vivian; Matesanz, Fuencisla; Otaegui, David; Urcelay, Elena; Antiguedad, Alfredo; Malhotra, Sunny; Montalban, Xavier; Castillo-Trivino, T
CELLS
(2020)
DOI /
10.3390/cells9010175
Gold DOAJ, Green published
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4
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Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes
Gil-Varea, Elia; Spataro, Nino; Villar, Luisa Maria; Tejeda-Velarde, Amalia; Midaglia, Luciana; Matesanz, Fuencisla; Malhotra, Sunny; Eixarch, Herena; Patsopoulos, Nikolaos; Fernandez, Oscar; Oliver-Martos, Begona; Saiz, Albert; Llufriu, Sara; Ramio-Torren
HUMAN MUTATION
1059-7794 (2020)
DOI /
10.1002/humu.24016
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3
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Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression
Perez-Nunez, Ivan; Karaky, Mohamad; Fedetz, Maria; Barrionuevo, Cristina; Izquierdo, Guillermo; Matesanz, Fuencisla; Alcina, Antonio
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2019)
DOI /
10.1038/s41431-019-0414-5
Green published, Gold other