Search Results - "Estivill, X"

Dose and time effects of solar‐simulated ultraviolet radiation on the in vivo human skin transcriptome by Bustamante, M., Hernandez‐Ferrer, C., Tewari, A., Sarria, Y., Harrison, G.I., Puigdecanet, E., Nonell, L., Kang, W., Friedländer, M.R., Estivill, X., González, J.R., Nieuwenhuijsen, M., Young, A.R.

“…Summary Background Terrestrial ultraviolet (UV) radiation causes erythema, oxidative stress, DNA mutations and skin cancer. Skin can adapt to these adverse…”
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Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations by Madrigal, I., Rabionet, R., Alvarez-Mora, M.I., Sanchez, A., Rodríguez-Revenga, L., Estivill, X., Mila, M.

“…Microcephaly is a rare condition in which the occipitofrontal circumference in a child is more than two standard deviations below the mean of children of the…”
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Origin of Primate Orphan Genes: A Comparative Genomics Approach by Toll-Riera, Macarena, Bosch, Nina, Bellora, Nicolás, Castelo, Robert, Armengol, Lluis, Estivill, Xavier, Mar Albà, M.

“…Genomes contain a large number of genes that do not have recognizable homologues in other species and that are likely to be involved in important…”
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A study into how ultraviolet radiation from the sun effects genes in the skin by Bustamante, M., Hernandez‐Ferrer, C., Tewari, A., Sarria, Y., Harrison, G.I., Puigdecanet, E., Nonell, L., Kang, W., Friedländer, M.R., Estivill, X., González, J.R., Nieuwenhuijsen, M., Young, A.R.

“…Summary The sun emits two main types of ultraviolet radiation (UVR): UVB (~5%) and UVA (~95%). We know that UVR from the sun causes sunburn (inflammation) as…”
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Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB by Ribasés, M, Ramos-Quiroga, J A, Hervás, A, Bosch, R, Bielsa, A, Gastaminza, X, Artigas, J, Rodriguez-Ben, S, Estivill, X, Casas, M, Cormand, B, Bayés, M

“…Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric disorder in which different genetic and environmental susceptibility factors are…”
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DNA methylation in neurodegenerative disorders: a missing link between genome and environment? by Iraola-Guzmán, S, Estivill, X, Rabionet, R

“…Iraola‐Guzmán S, Estivill X, Rabionet R. DNA methylation in neurodegenerative disorders: a missing link between genome and environment? The risk of developing…”
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Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR by Trujillano, D, Ramos, M D, González, J, Tornador, C, Sotillo, F, Escaramis, G, Ossowski, S, Armengol, L, Casals, T, Estivill, X

“…Here we have developed a novel and much more efficient strategy for the complete molecular characterisation of the cystic fibrosis (CF) transmembrane regulator…”
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Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia by Rodríguez-Santiago, B, Brunet, A, Sobrino, B, Serra-Juhé, C, Flores, R, Armengol, Ll, Vilella, E, Gabau, E, Guitart, M, Guillamat, R, Martorell, L, Valero, J, Gutiérrez-Zotes, A, Labad, A, Carracedo, A, Estivill, X, Pérez-Jurado, L A

“…Copy number variants (CNVs) are a substantial source of human genetic diversity, influencing the variable susceptibility to multifactorial disorders…”
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Gene-environment interaction in anorexia nervosa: relevance of non-shared environment and the serotonin transporter gene by Karwautz, A F K, Wagner, G, Waldherr, K, Nader, I W, Fernandez-Aranda, F, Estivill, X, Holliday, J, Collier, D A, Treasure, J L

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Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency by Alvarez-Mora, M.I., Rodriguez-Revenga, L., Madrigal, I., Garcia-Garcia, F., Duran, M., Dopazo, J., Estivill, X., Milà, M.

“…FMR1 premutation female carriers are at risk for Fragile X-associated primary ovarian insufficiency (FXPOI). Insights from knock-in mouse model have recently…”
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High risk of lifetime history of suicide attempts among CYP2D6 ultrarapid metabolizers with eating disorders by Peñas-Lledó, E M, Dorado, P, Agüera, Z, Gratacós, M, Estivill, X, Fernández-Aranda, F, LLerena, A

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Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia by Costas, J, Carrera, N, Alonso, P, Gurriarán, X, Segalàs, C, Real, E, López-Solà, C, Mas, S, Gassó, P, Domènech, L, Morell, M, Quintela, I, Lázaro, L, Menchón, J M, Estivill, X, Carracedo, Á

“…Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD…”
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Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type by RIBASES, M, GRATACOS, M, ARMENGOL, L, DE CID, R, BADIA, A, JIMENEZ, L, SOLANO, R, VALLEJO, J, FERNANDEZ, F, ESTIVILL, X

“…Several lines of evidence support a role for brain-derived neurotrophic factor (BDNF) alterations in the etiology of eating disorders (EDs). BDNF heterozygous…”
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Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis by Bassaganyas, L, Beà, S, Escaramís, G, Tornador, C, Salaverria, I, Zapata, L, Drechsel, O, Ferreira, P G, Rodriguez-Santiago, B, Tubio, J M C, Navarro, A, Martín-García, D, López, C, Martínez-Trillos, A, López-Guillermo, A, Gut, M, Ossowski, S, López-Otín, C, Campo, E, Estivill, X

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ADRB2 Gly16Arg polymorphism, asthma control and lung function decline by REBORDOSA, C, KOGEVINAS, M, DE MARCO, R, ESTIVILL, X, CORSICO, A. G, NIELSEN, R, JANSON, C, GUERRA, S, CASTRO-GINER, F, JARVIS, D, CAZZOLETTI, L, PIN, I, SIROUX, V, WJST, M, ANTO, J. M

“…Arg/Arg homozygotes for the Gly16Arg polymorphism in the β₂-adrenoreceptor gene (ADRB2) have a reduced response to short-acting β₂-agonists but no effect has…”
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Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients by Ars, E, Kruyer, H, Morell, M, Pros, E, Serra, E, Ravella, A, Estivill, X, Lázaro, C

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D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness by Nicchia, G.P, Ficarella, R, Rossi, A, Giangreco, I, Nicolotti, O, Carotti, A, Pisani, F, Estivill, X, Gasparini, P, Svelto, M, Frigeri, A

“…Abstract Aquaporins (AQPs) play a physiological role in several organs and tissues, and their alteration is associated with disorders of water regulation. The…”
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Additional support for the association of SLITRK1 var321 and Tourette syndrome by O'Roak, B J, Morgan, T M, Fishman, D O, Saus, E, Alonso, P, Gratacòs, M, Estivill, X, Teltsh, O, Kohn, Y, Kidd, K K, Cho, J, Lifton, R P, State, M W

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Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder by Alonso, P, Gratacòs, M, Segalàs, C, Escaramís, G, Real, E, Bayés, M, Labad, J, Pertusa, A, Vallejo, J, Estivill, X, Menchón, J.M

“…Summary Compelling data from animal and clinical studies suggest that sex steroids may play a role in the etiopathology of obsessive-compulsive disorder (OCD)…”
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On dendrites in Down syndrome and DS murine models: a spiny way to learn by Benavides-Piccione, R, Ballesteros-Yáñez, I, de Lagrán, M Martínez, Elston, G, Estivill, X, Fillat, C, Defelipe, J, Dierssen, M

“…Since the discovery in the 1970s that dendritic abnormalities in cortical pyramidal neurons are the most consistent pathologic correlate of mental retardation,…”
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