Visualitza per autoria "Estivill, Xavier, 1955-"

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  • A cuestas con la información del genoma
    Estivill, Xavier, 1955- (Quark, 2001-01-13)
  • A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
    Aróstegui Gorospe, Juan Ignacio; Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murias, Sara; Alcobendas, Rosa; González-Roca, Eva; Dreschsel, Oliver; Ruíz Ortiz, Estíbaliz; Puig, Anna; Comas, David, 1969-; Ossowski, Stephan; Yagüe, Jordi L.; Estivill, Xavier, 1955-; Merino, Rosa (BioMed Central, 2015)
    We identified a consanguineous Moroccan family with three affected siblings diagnosed with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. They all suffered from an early-onset (2-4 years-old) chronic ...
  • A highly expressed miR-101 isomiR is a functional silencing small RNA
    Llorens, Franc; Bañez Coronel, Mónica; Pantano Rubiño, Lorena, 1982-; del Río, José Antonio; Ferrer, Isidre; Estivill, Xavier, 1955-; Martí, Eulàlia (BioMed Central, 2013)
    Background: MicroRNAs (miRNAs) are short non-coding regulatory RNAs that control gene expression usually producing translational repression and gene silencing. High-throughput sequencing technologies have revealed heterogeneity ...
  • Allele balance bias identifies systematic genotyping errors and false disease associations
    Muyas, Francesc; Bosio, Mattia; Puig, Anna; Sušak, Hana, 1985-; Domènech Salgado, Laura, 1989-; Escaramís, Geòrgia; Zapata Ortiz, Luis, 1985-; Demidov, German, 1990-; Estivill, Xavier, 1955-; Rabionet, Raquel; Ossowski, Stephan (Wiley, 2019)
    In recent years, next-generation sequencing (NGS) has become a cornerstone of clinical genetics and diagnostics. Many clinical applications require high precision, especially if rare events such as somatic mutations in ...
  • Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders
    Muiños Gimeno, Margarita; Guidi, Mònica; Kagerbauer, Birgit; Martín Santos, Rocío; Navinés, Ricard; Alonso, Pino; Menchón, José M.; Gratacós Mayora, Mònica; Estivill, Xavier, 1955-; Espinosa Parrilla, Yolanda, 1971- (Wiley-Blackwell, 2009)
    Genetic and functional data indicate that variation in the expression of the neurotrophin-3 receptor gene (NTRK3) may have an impact on neuronal plasticity, suggesting a role for NTRK3 in the pathophysiology of anxiety ...
  • Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia
    Mercader Bigas, Josep Maria; Ribasés, Marta; Gratacós Mayora, Mònica; González Ruiz, Juan Ramón; Bayés, Mònica; Cid Ibeas, Rafael de; Badía, Anna; Fernández Aranda, Fernando; Estivill, Xavier, 1955- (John Wiley & Sons, 2007)
    Murine models and association studies in eating disorder (ED) patients have shown a role for the brain-derived neurotrophic factor (BDNF) in eating behavior. Some studies have shown association of BDNF -270C/T single-nucleotide ...
  • Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
    Bosch Pagès, Nina; Escaramís, Geòrgia; Mercader Bigas, Josep Maria; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Elsevier, 2008)
    Copy number variants contribute extensively to inter-individual genomic differences, but little is known about their inter-population variability and diversity. In a previous study (Bosch et al., 2007; 16:2572-2582), we ...
  • Association of irisin with fat mass, resting energy expenditure, and daily activity in conditions of extreme body mass index
    Pardo, María Luisa; Crujeiras, Ana B.; Amil, María; Agüera, Zaida; Jiménez Murcia, Susana; Baños, Rosa M.; Botella, Cristina; Torre Fornell, Rafael de la; Estivill, Xavier, 1955-; Fagundo, Ana B.; Fernández Real, Jose M.; Fernández García, José C.; Frühbeck, Gema; Gómez Ambrosi, Javier; Rodríguez, Roser; Tinahones Madueño, Francisco José; Fernández Aranda, Fernando; Casanueva, Felipe F. (Hindawi, 2014)
    FNDC5/irisin has been recently postulated as beneficial in the treatment of obesity and diabetes because it is induced in muscle by exercise, increasing energy expenditure. However, recent reports have shown that WAT also ...
  • Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
    Mercader Bigas, Josep Maria; Saus Martínez, Ester; Agüera, Zaida; Bayés, Mònica; Boni, Claudette; Carreras, Anna; Cellini, Elena; Cid Ibeas, Rafael de; Dierssen, Mara; Escaramís, Geòrgia; Fernández Aranda, Fernando; Forcano, Laura; Gallego, Xavier; González Ruiz, Juan Ramón; Gorwood, Philip; Hebebrand, Johannes; Hinney, Anke; Nacmias, Benedetta; Puig, Anna; Ribasés, Marta; Ricca, Valdo; Romo, Lucía; Sorbi, Sandro; Versini, Audrey; Gratacós Mayora, Mònica; Estivill, Xavier, 1955- (Oxford University Press, 2008)
    Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal ...
  • Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
    Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio (Nature Research, 2019)
    Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We ...
  • Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients
    Mercader Bigas, Josep Maria; Fernández Aranda, Fernando; Gratacós Mayora, Mònica; Ribasés, Marta; Badía, Anna; Villarejo, Cynthia; Solano, Raquel; González Ruiz, Juan Ramón; Vallejo, Julio; Estivill, Xavier, 1955- (Karger (S. Karger AG), 2007)
    Background: Evidence of a role of brain-derived neurotrophic factor (BDNF) in the pathophysiology of eating disorders (ED) has been provided by association studies and by murine models. BDNF plasma levels have been found ...
  • Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
    Domènech Salgado, Laura, 1989-; Willis, Jesse R.; Alemany-Navarro, María; Morell, Marta; Real, Eva; Escaramís, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells, Susana; Segalàs, Cinto; Estivill, Xavier, 1955-; Menchón, José M.; Gabaldón Estevan, Juan Antonio, 1973-; Alonso, Pino; Rabionet, Raquel (Nature Research, 2022)
    Although the etiology of obsessive-compulsive disorder (OCD) is largely unknown, it is accepted that OCD is a complex disorder. There is a known bi-directional interaction between the gut microbiome and brain activity. ...
  • Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events
    Bosch Pagès, Nina; Cáceres Aguilar, Mario; Cardone, Maria Francesca; Carreras, Anna; Ballana Guix, Ester; Rocchi, Mariano; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Oxford University Press, 2007)
    Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements. Part of the difficulty ...
  • Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk
    Rubio Martínez, Mercedes, 1980-; Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Fernández-Orth, Dietmar; Pantano Rubiño, Lorena, 1982-; Sarria-Trujillo, Yaris; Piqué-Borras, Maria; Vellve del Amo, Kilian; Agramunt, Silvia; Carreras Collado, Ramón; Estivill, Xavier, 1955-; González Ruiz, Juan Ramón; Mayor, Alfredo (Public Library of Science (PLoS), 2018)
    Circulating small RNAs, including miRNAs but also isomiRs and other RNA species, have the potential to be used as non-invasive biomarkers for communicable and non-communicable diseases. This study aims to characterize and ...
  • Cluster analysis of clinical data identifies fibromyalgia subgroups
    Docampo, Elisa; Collado, Antonio; Escaramís, Geòrgia; Carbonell, Jordi; Rivera, Javier; Vidal, Javier; Alegre, José; Rabionet, Raquel; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)
    Introduction. Fibromyalgia (FM) is mainly characterized by widespread pain and multiple accompanying symptoms, which hinder FM assessment and management. In order to reduce FM heterogeneity we classified clinical data into ...
  • A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
    Aigner, Johanna, 1981-; Villatoro, Sergi; Rabionet, Raquel; Roquer, Jaume; Jiménez Conde, Jordi; Martí, Eulàlia; Estivill, Xavier, 1955- (BioMed Central, 2013)
    Background: The Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T ...
  • Common variants at 12q15 and 12q24 are associated with infant head circumference
    Taal, H. Rob; Guxens Junyent, Mònica; Sunyer Deu, Jordi; Estivill, Xavier, 1955-; Jaddoe, Vincent W. V. (Nature Research, 2012)
    To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy ...
  • The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    Sailani, M. Reza; Rabionet, Kelly; Serra Juhé, Clara, 1984-; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Antonarakis, Stylianos E. (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic ...
  • Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
    Muiños Gimeno, Margarita; Montfort, Magda; Bayés, Mònica; Estivill, Xavier, 1955-; Espinosa Parrilla, Yolanda, 1971- (Nature Publishing Group, 2010)
    MicroRNAs (miRNA) are recognized posttranscriptional gene repressors involved in the control of almost every biological process. Allelic variants in these regions may be an important source of phenotypic diversity and ...
  • Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing
    Trujillano Lidón, Daniel, 1987-; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier, 1955-; Ars, Elisabet (Wiley, 2014)
    Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous ...

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