A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis

Human Molecular Genetics

Volumn 24, Issue 19, 2015, Pages 5619-5627

  Matesanz, Fuencisla ^a   Potenciano, Victor ^a,b   Fedetz, Maria ^a   Ramos Mozo, Priscila ^c   del Mar Abad Grau, María ^b   Karaky, Mohamad ^a   Barrionuevo, Cristina ^a   Izquierdo, Guillermo ^e   Ruiz Peña, Juan Luis ^e   García Sánchez, María Isabel ^e   Lucas, Miguel ^e   Fernández, Óscar ^f   Leyva, Laura ^f   Otaegui, David ^g   Muñoz Culla, Maider ^g   Olascoaga, Javier ^g   Vandenbroeck, Koen ^h,i,j   Alloza, Iraide ^h,i,j   Astobiza, Ianire ^h,i   Antigüedad, Alfredo ^k   Villar, Luisa María ^c,l   Álvarez Cermeño, José Carlos ^c,l   Malhotra, Sunny ^m   Comabella, Manuel ^m   Montalban, Xavier ^m   Saiz, Albert ⁿ   Blanco, Yolanda ⁿ   Arroyo, Rafael ^d   Varadé, Jezabel ^c   Urcelay, Elena ^c   Alcina, Antonio ^a   more..

^a INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^b UNIVERSITY OF GRANADA   (Spain)

^c Department of Immunology ^*  (Spain)

^d HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^e HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

^f HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^g BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^h UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

ⁱ ACHUCARRO BASQUE CENTER FOR NEUROSCIENCE   (Spain)

^j BASQUE FOUNDATION FOR SCIENCE   (Spain)

^k HOSPITAL DE BASURTO   (Spain)

^l HOSPITAL RAMÓN Y CAJAL   (Spain)

^m HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

ⁿ HOSPITAL CLÍNIC   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN SP 140; RNA ISOFORM; UNCLASSIFIED DRUG; CELL NUCLEUS ANTIGEN; SP140 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ALTERNATIVE RNA SPLICING; ARTICLE; CHRONIC LYMPHATIC LEUKEMIA; CONTROLLED STUDY; CROHN DISEASE; EXON SKIPPING; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE TRAIT LOCUS; RNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; BLOOD; CASE CONTROL STUDY; EXON; GENETICS; GENOME-WIDE ASSOCIATION STUDY; SEQUENCE ANALYSIS;

ANTIGENS, NUCLEAR; CASE-CONTROL STUDIES; EXONS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LINKAGE DISEQUILIBRIUM; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; SEQUENCE ANALYSIS, RNA; TRANSCRIPTION FACTORS;

EID: 84943768555     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv256     Document Type: Article

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