Xavier Estivill

Summary

Publications

  1. pmc Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
    Nina Bosch
    Genetic Causes of Disease Group, Genes and Disease Programme Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    PLoS ONE 4:e8269. 2009
  2. pmc A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity
    Mónica Bañez-Coronel
    Genes and Disease Programme, Centre for Genomic Regulation and Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
    PLoS Genet 8:e1002481. 2012
  3. doi request reprint Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
    D Trujillano
    Genetic Causes of Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation CRG, Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain
    J Med Genet 50:455-62. 2013
  4. doi request reprint Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease
    Monica Gratacos
    CIBER en Epidemiología y Salud Pública CIBERESP, Genes and Disease Program, Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    J Psychiatr Res 44:834-40. 2010
  5. doi request reprint Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
    Josep Maria Mercader
    Genes and Disease Program, Center for Genomic Regulation, 08003 Barcelona, Catalonia, Spain
    Hum Mol Genet 17:1234-44. 2008
  6. doi request reprint Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
    Nina Bosch
    Genetic Causes of Disease Group, Genes and Disease Programme Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    Gene 420:113-7. 2008
  7. doi request reprint Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder
    Marta Ribases
    Department of Psychiatry, Hospital Universitari Vall d Hebron, Barcelona, Catalonia, Spain
    Biol Psychiatry 66:926-34. 2009
  8. doi request reprint Independent contribution of common CFTR variants to chronic pancreatitis
    Rafael de Cid
    Genetic Cause of Disease, Genes and Disease Program, Center for Genomic Regulation, Fundacio IDIBELL, Barcelona, Spain
    Pancreas 39:209-15. 2010
  9. doi request reprint A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder
    Eva Real
    OCD Clinical and Research Unit, Instituto de Salud Carlos III, Department of Psychiatry, Bellvitge University Hospital, Barcelona, Spain
    Biol Psychiatry 66:674-80. 2009
  10. doi request reprint Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients
    Ester Saus
    CIBER en Epidemiología y Salud Pública CIBERESP, Genes and Disease Program, Center for Genomic Regulation CRG UPF, Barcelona 08003, Catalonia, Spain
    J Psychiatr Res 44:971-8. 2010

Detail Information

Publications79

  1. pmc Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
    Nina Bosch
    Genetic Causes of Disease Group, Genes and Disease Programme Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    PLoS ONE 4:e8269. 2009
    ..The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals...
  2. pmc A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity
    Mónica Bañez-Coronel
    Genes and Disease Programme, Centre for Genomic Regulation and Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
    PLoS Genet 8:e1002481. 2012
    ..The identification of the specific cellular processes affected by sCAGs may provide insights into the pathogenic mechanisms underlying HD, offering opportunities to develop new therapeutic approaches...
  3. doi request reprint Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
    D Trujillano
    Genetic Causes of Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation CRG, Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain
    J Med Genet 50:455-62. 2013
    ..We have tested this approach in a cohort of 92 samples with previously characterised CFTR mutations and polymorphisms...
  4. doi request reprint Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease
    Monica Gratacos
    CIBER en Epidemiología y Salud Pública CIBERESP, Genes and Disease Program, Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    J Psychiatr Res 44:834-40. 2010
    ....
  5. doi request reprint Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
    Josep Maria Mercader
    Genes and Disease Program, Center for Genomic Regulation, 08003 Barcelona, Catalonia, Spain
    Hum Mol Genet 17:1234-44. 2008
    ..The reported data, in addition to the previous reported findings for BDNF and NTRK2, point neurotrophin signaling genes as key regulators of eating behavior and their altered cross-regulation as susceptibility factors for EDs...
  6. doi request reprint Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
    Nina Bosch
    Genetic Causes of Disease Group, Genes and Disease Programme Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    Gene 420:113-7. 2008
    ..However, this variability has little impact on gene expression levels, thus highlighting the importance of genomic variability for genes located in regions containing segmental duplications...
  7. doi request reprint Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder
    Marta Ribases
    Department of Psychiatry, Hospital Universitari Vall d Hebron, Barcelona, Catalonia, Spain
    Biol Psychiatry 66:926-34. 2009
    ....
  8. doi request reprint Independent contribution of common CFTR variants to chronic pancreatitis
    Rafael de Cid
    Genetic Cause of Disease, Genes and Disease Program, Center for Genomic Regulation, Fundacio IDIBELL, Barcelona, Spain
    Pancreas 39:209-15. 2010
    ..For this aim, we have evaluated clinical parameters, CFTR mutations, and 3 potential regulatory CFTR variants (coding single-nucleotide polymorphisms): c.1540A>G, c.2694T>G, and c.4521G>A...
  9. doi request reprint A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder
    Eva Real
    OCD Clinical and Research Unit, Instituto de Salud Carlos III, Department of Psychiatry, Bellvitge University Hospital, Barcelona, Spain
    Biol Psychiatry 66:674-80. 2009
    ..Thus, we hypothesized that the BDNF gene might also be associated with treatment outcome in OCD...
  10. doi request reprint Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients
    Ester Saus
    CIBER en Epidemiología y Salud Pública CIBERESP, Genes and Disease Program, Center for Genomic Regulation CRG UPF, Barcelona 08003, Catalonia, Spain
    J Psychiatr Res 44:971-8. 2010
    ....
  11. doi request reprint Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility
    Virginia Soria
    CIBERSAM CIBER en Salud Mental, Mood Disorders Clinical and Research Unit, Psychiatry Department, Bellvitge University Hospital, IDIBELL, Barcelona, Spain
    J Pineal Res 49:35-44. 2010
    ..Our results support the hypothesis that the melatonin-signaling pathway and circadian clock mechanisms may contribute to the pathophysiology of MD...
  12. doi request reprint Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia
    Ester Saus
    Genes and Disease Program, Center for Genomic Regulation UPF, and CIBER en Epidemiología y Salud Pública, Barcelona 08003, Catalonia, Spain
    Hum Mol Genet 19:4017-25. 2010
    ....
  13. ncbi request reprint Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations
    Marta Ribases
    Genes and Disease Program, Center for Genomic Regulation, Barcelona Biomedical Research Park, Barcelona, Spain
    Eur J Hum Genet 13:428-34. 2005
    ..These results support the involvement of BDNF in eating behaviour and further suggest its participation in the genetic susceptibility to ED, mainly ANR and low minBMI...
  14. pmc A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS)
    Francesc Castro-Giner
    Public Health and Epidemiology Network Biomedical Research Center, Barcelona, Spain
    BMC Med Genet 10:128. 2009
    ..First, we assessed all markers in a subset of subjects using DNA pooling, and in a second stage we evaluated the most promising markers at an individual level...
  15. doi request reprint Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 are associated with panic disorder and regulate several anxiety candidate genes and related pathways
    Margarita Muiños-Gimeno
    Genes and Disease Program, Centre for Genomic Regulation CRG, Public Health and Epidemiology Network Biomedical Research Center CIBERESP, Barcelona, Catalonia, Spain
    Biol Psychiatry 69:526-33. 2011
    ....
  16. pmc Identification of copy number variants defining genomic differences among major human groups
    Lluis Armengol
    Genetic Causes of Disease Group, Genes and Disease Program, Center for Genomic Regulation CRG UPF and CIBERESP, Barcelona, Catalonia, Spain
    PLoS ONE 4:e7230. 2009
    ..Understanding the genetic contribution to phenotype variation of human groups is necessary to elucidate differences in disease predisposition and response to pharmaceutical treatments in different human populations...
  17. ncbi request reprint Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders
    Margarita Muiños-Gimeno
    Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública CIBERESP, Barcelona, Spain
    Hum Mutat 30:1062-71. 2009
    ..These data implicate miRNAs as key posttranscriptional regulators of NTRK3 and provide a framework for allele-specific miRNA regulation of NTRK3 in anxiety disorders...
  18. pmc Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6
    Eva Riveira-Munoz
    Center for Genomic Regulation and Public Health and Epidemiology Network Biomedical Research Center, CIBERESP, Barcelona, Spain
    J Invest Dermatol 131:1105-9. 2011
    ....
  19. pmc Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
    Margarita Muiños-Gimeno
    Genes and Disease Program, Center for Genomic Regulation, Barcelona, Catalonia, Spain
    Eur J Hum Genet 18:218-26. 2010
    ..The designed miRNA SNP panel could help to identify still hidden links between miRNAs and human disease...
  20. doi request reprint Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model
    Josep M Mercader
    Center for Genomic Regulation, Barcelona, Catalonia, Spain
    Gene 497:181-90. 2012
    ....
  21. pmc Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder
    Pino Alonso
    OCD Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Barcelona, Spain
    J Psychiatry Neurosci 37:273-81. 2012
    ....
  22. pmc MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
    Ester Ballana
    Genes and Disease Program, Centre for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    BMC Med Genet 8:81. 2007
    ..However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified...
  23. pmc A myriad of miRNA variants in control and Huntington's disease brain regions detected by massively parallel sequencing
    Eulalia Marti
    Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation CRG, Catalonia, Spain
    Nucleic Acids Res 38:7219-35. 2010
    ..Our results show that miRNA variability is a ubiquitous phenomenon in the adult human brain, which may influence gene expression in physiological and pathological conditions...
  24. doi request reprint Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis
    Elisa Docampo
    Center for Genomic Regulation Pompeu Fabra University and Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Barcelona, Spain
    Arthritis Rheum 62:1246-51. 2010
    ..The purpose of this study was to assess whether this polymorphic gene deletion could also be involved in susceptibility to RA...
  25. pmc Influence of glutathione S-transferase polymorphisms on cognitive functioning effects induced by p,p'-DDT among preschoolers
    Eva Morales
    Center for Research in Environmental Epidemiology, Barcelona, Spain
    Environ Health Perspect 116:1581-5. 2008
    ..We hypothesized that genetic variability in glutathione S-transferase (GST) genes (GSTP1, GSTM1, and GSTT1) could influence the effects of prenatal exposure to p,p'-DDT...
  26. doi request reprint Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis
    Elisa Docampo
    Center for Genomic Regulation Pompeu Fabra University and Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Barcelona, Spain
    Arthritis Rheum 63:1860-5. 2011
    ....
  27. pmc Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells
    Monica Guidi
    Center for Genomic Regulation, Genes and Disease Program, Dr, Aiguader 88, 08003 Barcelona, Spain
    BMC Mol Biol 11:95. 2010
    ..Here, we provide evidence that the two isoforms of NTRK3 are targeted by different sets of microRNAs, small non-coding RNAs that play an important regulatory role in the nervous system...
  28. doi request reprint DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood
    Eva Morales
    Center for Research in Environmental Epidemiology, Barcelona, Catalonia, Spain
    Am J Respir Crit Care Med 185:937-43. 2012
    ..Epigenetic changes may play a role in the occurrence of asthma-related phenotypes...
  29. pmc A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness
    Juan R Gonzalez
    Genes and Disease Program, and CEGEN Barcelona Genotyping Mode, Center for Genomic Regulation, Barcelona, Spain
    Hum Mutat 27:1135-42. 2006
    ..This model works well, especially in homozygous carriers, showing a high discriminative power. This indicates that our proposed model can be useful in the context of clinical counseling of autosomal recessive disorders...
  30. ncbi request reprint Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events
    Nina Bosch
    Genes and Disease Program, Center for Genomic Regulation CRG UPF and CIBERESP, Barcelona, Catalonia, Spain
    Hum Mol Genet 16:2572-82. 2007
    ..1 region and constitutes a good example of how SDs, CNVs and rearrangements within themselves can promote the formation of new gene sequences with potential functional consequences...
  31. pmc Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS)
    Francesc Castro-Giner
    Centre for Research in Environmental Epidemiology, Barcelona, Spain
    Environ Health Perspect 117:1919-24. 2009
    ..Traffic-related air pollution is related with asthma, and this association may be modified by genetic factors...
  32. doi request reprint MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function
    Elena Miñones-Moyano
    Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation, Barcelona, Catalonia, Spain
    Hum Mol Genet 20:3067-78. 2011
    ..A better understanding of the cellular pathways controlling and/or controlled by miR-34b/c should allow identification of targets for development of therapeutic approaches...
  33. doi request reprint Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model
    Josep Maria Mercader
    Genes and Disease Program, Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    Physiol Genomics 35:341-50. 2008
    ....
  34. pmc Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition
    Eva Morales
    Center for research in environmental epidemiology CREAL, Barcelona, Catalonia, Spain
    PLoS ONE 6:e17181. 2011
    ....
  35. doi request reprint Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects
    Xavier Gallego
    Genes and Disease Program, Center for Genomic Regulation, Barcelona Biomedical Research Park, 08003 Barcelona, Catalonia, Spain
    Amino Acids 43:897-909. 2012
    ....
  36. doi request reprint Val66Met BDNF genotypes in melancholic depression: effects on brain structure and treatment outcome
    Narcis Cardoner
    Department of Psychiatry, Bellvitge University Hospital IDIBELL, Feixa Llarga s n, Barcelona, Spain
    Depress Anxiety 30:225-33. 2013
    ....
  37. ncbi request reprint The interaction between Comt and Bdnf variants influences obsessive-compulsive-related dysfunctional beliefs
    Pino Alonso
    OCD Clinical and Research Unit, Psychiatry Department, Hospital de Bellvitge, Barcelona, Spain
    J Anxiety Disord 27:321-7. 2013
    ..An interaction between dopaminergic and neurotrophic functional gene variants may influence dysfunctional beliefs hypothesized to contribute to the development of OCD...
  38. pmc BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
    Anna Brunet
    Genes and Disease Program, CIBER en Epidemiología y Salud Pública CIBERESP, Center for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    BMC Med Genet 10:144. 2009
    ..Microdeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS) but a subset of subjects do not show alterations of this chromosome region...
  39. ncbi request reprint RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration
    Silvia Porta
    Genes and Disease Program, Center for Genomic Regulation CRG UPF, Biomedical Research Park Building, E 08003 Barcelona, Catalonia, Spain
    Hum Mol Genet 16:1039-50. 2007
    ....
  40. doi request reprint Correlation of BDNF blood levels with interoceptive awareness and maturity fears in anorexia and bulimia nervosa patients
    J M Mercader
    Department of Psychiatry, Ciber Fisiopatologia Obesidad y Nutricion, University Hospital of Bellvitge, Hospitalet del Llobregat, Barcelona, Spain
    J Neural Transm 117:505-12. 2010
    ..10; p = 0.008). Our data suggest that BDNF levels may influence the severity of the ED by modulating the associated psychopathology, in particular through the impairment of interoceptive awareness...
  41. ncbi request reprint Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system
    Elisa Docampo
    Genomics and Disease Group, Centre for Genomic Regulation CRG, Dr Aiguader 88, 08003 Barcelona, Catalonia, Spain Universitat Pompeu Fabra UPF, Barcelona, Catalonia, Spain Institut Hospital del Mar d Investigacions Mèdiques IMIM, 08003 Barcelona, Catalonia, Spain Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública CIBERESP, Barcelona, Catalonia, Spain
    Pain 155:1102-9. 2014
    ..If the proposed FM candidate genes were further validated in replication studies, this would highlight a neurocognitive involvement in agreement with latest reports. ..
  42. doi request reprint Maximizing association statistics over genetic models
    Juan R Gonzalez
    Center for research in environmental epidemiology CREAL, Barcelona, Spain
    Genet Epidemiol 32:246-54. 2008
    ..A simulation study shows that the use of the max-statistic is a powerful approach that provides safeguard against model uncertainty...
  43. pmc Cluster analysis of clinical data identifies fibromyalgia subgroups
    Elisa Docampo
    Genomics and Disease Group, Centre for Genomic Regulation CRG, Barcelona, Spain Universitat Pompeu Fabra UPF, Barcelona, Spain Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública CIBERESP, Barcelona, Spain
    PLoS ONE 8:e74873. 2013
    ..In order to reduce FM heterogeneity we classified clinical data into simplified dimensions that were used to define FM subgroups...
  44. pmc Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies
    Xavier Estivill
    Center for Genomic Regulation CRG, National Genotyping Center CeGen, CIBERESP, Pompeu Fabra University UPF, Barcelona, Catalonia, Spain
    PLoS Genet 3:1787-99. 2007
    ..This reveals the need for new generation arrays (some already in the market) and the use of tailored approaches to explore the full dimension of genome variability beyond the single nucleotide scale...
  45. ncbi request reprint Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder
    Pino Alonso
    OCD Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Barcelona, Spain
    Biol Psychiatry 63:619-28. 2008
    ..We used a linkage disequilibrium (LD)-mapping approach to investigate the role that BDNF and its specific receptor neurotrophic tyrosine kinase receptor type 2 (NTRK2) may play in increasing susceptibility to OCD...
  46. ncbi request reprint Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia
    Monica Gratacos
    Genes and Disease Program, Center for Genomic Regulation CRG, Psychiatry Department, Hospital Universitari de Bellvitge, Barcelona, Spain
    Biol Psychiatry 61:911-22. 2007
    ..The valine (Val)66-to-methionine (Met) variant, located in the pro brain-derived neurotrophic factor (BDNF) sequence, has been extensively studied through linkage and association approaches in several psychiatric disorders...
  47. pmc A highly expressed miR-101 isomiR is a functional silencing small RNA
    Franc Llorens
    Molecular and Cellular Neurobiotechnology Group, Institut de Bioenginyeria de Catalunya, Parc Cientific de Barcelona, Barcelona, Spain
    BMC Genomics 14:104. 2013
    ..Here we have characterized the expression and function of a highly abundant miR-101 5'-trimming variant (5'-isomiR-101)...
  48. ncbi request reprint Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene
    Olga Bravo
    Otolaryngology Department, Ciutat Sanitaria i Universitaria de Bellvitge, L Hospitalet de Llobregat, Catalonia, Spain
    Biochem Biophys Res Commun 344:511-6. 2006
    ..Although the expression of the mutation is variable, cochlear alterations are present in all carriers of mutation A1555G...
  49. doi request reprint Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients
    Josep M Mercader
    Genes and Disease Program, Center for Genomic Regulation CRG, CIBER en Epidemiología y Salud Pública, Barcelona, Spain
    Neuropsychobiology 56:185-90. 2007
    ..BDNF plasma levels have been found altered in ED and in psychiatric disorders that show comorbidity with ED...
  50. pmc Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder
    Virginia Soria
    CIBERSAM CIBER en Salud Mental, Mood Disorders Clinical and Research Unit, Psychiatry Department, Bellvitge University Hospital, Barcelona, Spain
    Neuropsychopharmacology 35:1279-89. 2010
    ..Our data support the contribution of the circadian system to the genetic susceptibility to MD and suggest that different circadian genes may have specific effects on MD polarity...
  51. doi request reprint Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate
    Immaculada Ponsa
    Genes and Disease Program, Center for Genomic Regulation CRG, UPF, Barcelona, Catalonia, Spain
    Mutat Res 666:44-9. 2009
    ..MPH treatment of children and adults with ADHD resulted in no significant genomic damage (as suggested by the three endpoints studied), results that do not support a potential increased risk of cancer after exposure to MPH...
  52. pmc Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
    Rafael de Cid
    Genes and Disease Programme, Centre for Genomic Regulation CRG and Public Health and Epidemiology Network Biomedical Research Center CIBERESP, 08003 Barcelona, Spain
    Nat Genet 41:211-5. 2009
    ..LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility...
  53. doi request reprint Origin of primate orphan genes: a comparative genomics approach
    Macarena Toll-Riera
    Evolutionary Genomics Group, Biomedical Informatics Research Programme, Fundació Institut Municipal d Investigació Mèdica, Barcelona, Spain
    Mol Biol Evol 26:603-12. 2009
    ..This indicates frequent recruitment of TEs as part of novel genes. Finally, we also obtain evidence that a small fraction of primate orphan genes, around 5.5%, might have originated de novo from mammalian noncoding genomic regions...
  54. ncbi request reprint Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system
    Eulalia Marti
    Program in Genes and Disease, Centre de Regulacio Genomica CRG, Passeig Maritim 37 49, 08003, Barcelona, Spain
    Brain Res 964:250-63. 2003
    ....
  55. ncbi request reprint Murine segmental duplications are hot spots for chromosome and gene evolution
    Lluis Armengol
    Genes and Disease Program, Center for Genomic Regulation, Passeig Maritim 37 49, 08003 Barcelona, Catalonia, Spain
    Genomics 86:692-700. 2005
    ....
  56. pmc Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
    Juan R Gonzalez
    Center for research in environmental epidemiology CREAL, Barcelona, Spain
    BMC Bioinformatics 9:261. 2008
    ..This method establishes a threshold by using different tolerance intervals that accommodates the specific random error variability observed in each test sample...
  57. ncbi request reprint Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes
    Francina Fonseca
    Institut de Neuropsiquiatria i Addiccions Parc de Salut Mar, Barcelona, Spain
    Mol Diagn Ther 14:171-8. 2010
    ..Most studies have focused on genetic polymorphisms related to methadone pharmacokinetics and, to a lesser extent, those genes implicated in the pharmacodynamics of methadone...
  58. doi request reprint Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring
    Eva Morales
    Center for Research in Environmental Epidemiology, Barcelona, Catalonia, Spain
    Am J Obstet Gynecol 204:164.e1-9. 2011
    ..We assessed whether maternal C-reactive protein (CRP) levels during pregnancy and CRP gene variations are associated with wheezing and lower respiratory tract infections (LRTIs) in offspring...
  59. pmc Accounting for uncertainty when assessing association between copy number and disease: a latent class model
    Juan R Gonzalez
    Center for research in environmental epidemiology CREAL, Barcelona, Spain
    BMC Bioinformatics 10:172. 2009
    ..We also indicate how to use the model to analyze continuous traits and adjust for confounding covariates...
  60. doi request reprint ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment
    Francina Fonseca
    Institut de Neuropsiquiatria i Addicions, Hospital del Mar, Barcelona, Spain Institut Hospital del Mar d Investigacions Mèdiques IMIM, Barcelona, Spain
    Eur Neuropsychopharmacol 24:420-4. 2014
    ..These neuropsychological effects related with the reduction in enzyme activity could be responsible for a higher propensity to relapse in these genetically predisposed patients. ..
  61. ncbi request reprint Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin
    Ester Ballana
    Genes and Disease Program, Centre for Genomic Regulation, Universitat Pompeu Fabra, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain
    Biochem Biophys Res Commun 346:619-20. 2006
  62. ncbi request reprint SNPassoc: an R package to perform whole genome association studies
    Juan R Gonzalez
    Genes and Disease Program, Centre for Genomic Regulation, IDIBELL, Catalan Institute of Oncology, Barcelona, Spain
    Bioinformatics 23:644-5. 2007
    ....
  63. ncbi request reprint Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
    Ester Ballana
    Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    Hum Mutat 29:248-57. 2008
    ..The development of assays for reliably detecting low-level heteroplasmy, together with the study of heteroplasmic mtDNA transmission, are essential steps for a better knowledge and clinical management of mtDNA diseases...
  64. doi request reprint Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5
    Ester Ballana
    Genes and Disease Programme, Center for Genomic Regulation CRG, UPF, Barcelona, Catalonia, Spain
    Neurosci Lett 442:134-9. 2008
    ..This vector could be of major interest in addressing gene therapy approaches to deafness as well as for studying basic aspects of inner-ear development and hearing mechanisms...
  65. pmc ProSeeK: a web server for MLPA probe design
    Lorena Pantano
    Genes and Disease Program, Center for Genomic Regulation CRG, Doctor Aiguader, Catalonia, Spain
    BMC Genomics 9:573. 2008
    ..Due to the large number of probes included in a single assay, a number of restrictions need to be met in order to maximize specificity and to increase success likelihood...
  66. doi request reprint GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers
    Eva Morales
    Center for research in environmental epidemiology CREAL, Barcelona, Spain
    Int J Epidemiol 38:690-7. 2009
    ..Parental factors are proposed as an explanatory. We studied the influence of GSTM1 and GSTT1 polymorphisms on the cognition effects induced by active maternal smoking during pregnancy...
  67. doi request reprint Aneuploidy: from a physiological mechanism of variance to Down syndrome
    Mara Dierssen
    Genes and Disease Program, Genomic Regulation Center CRG, Pompeu Fabra University, Barcelona Biomedical Research Park, Dr Aiguader 88, PRBB building E, Barcelona 08003, Catalonia, Spain
    Physiol Rev 89:887-920. 2009
    ..We also review the potential that genetically engineered mouse models of DS bring into the understanding of the molecular biology of human learning disorders...
  68. doi request reprint A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome
    Lorena Pantano
    Genetic Causes of Disease, Genes and Disease Programme, Centre for Genomic Regulation CRG and UPF, Barcelona, Spain
    Bioinformatics 27:3202-3. 2011
    ..As a consequence, tools for the identification and classification of the sRNAs not belonging to miRNA family are currently lacking...
  69. pmc Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
    Anna Brunet
    Genes and Disease Program, Barcelona Genotyping Node, CeGen CRG, CIBER en Epidemiología y Salud Pública CIBERESP, Center for Genomic Regulation CRG UPF, Barcelona, Catalonia, Spain
    Behav Brain Funct 4:10. 2008
    ..Our results corroborate the prevalence of the 22q11.2 microdeletion in patients with schizophrenia and clinical features of DG/VCFS and do not suggest an association between 22q11.2 microduplication and schizophrenia...
  70. pmc PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data
    Georgia Escaramis
    Genetic Causes of Disease Group, Centre for Genomic Regulation CRG, Barcelona, Spain
    PLoS ONE 8:e63377. 2013
    ..This allowed us to determine confidence parameters that influence the reliability of breakpoint predictions...
  71. pmc Storage conditions and stability of global DNA methylation in placental tissue
    Nadia Vilahur
    Center for research in environmental epidemiology CREAL, Barcelona, Catalonia, Spain
    Epigenomics 5:341-8. 2013
    ..The placenta is an informative and easily available tissue for many epidemiological studies. We analyzed the extent to which storage delay affects DNA methylation...
  72. pmc SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report
    Xavier Estivill
    Genes and Disease Program, Center for Genomic Regulation CRG UPF, Barcelona, Spain
    PLoS Genet 4:e1000068. 2008
  73. pmc Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling
    Silvia Bea
    Hematopathology Unit, Department of Pathology, Hospital Clinic, Institut d Investigacions Biomediques August Pi i Sunyer, University of Barcelona, Barcelona, Spain
    Blood 113:3059-69. 2009
    ..This integrative genomic analysis has revealed target genes that may be potentially relevant in MCL pathogenesis...
  74. doi request reprint Screening for the presence of FMR1 premutation alleles in women with fibromyalgia
    Laia Rodriguez-Revenga
    Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain
    Gene 512:305-8. 2013
    ..However it would be worthwhile to further evaluate the different clinical presentations that fibromyalgia patients might present based on their FMR1 premutation carrier status...
  75. pmc Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility
    Xavier Sole
    Bioinformatics and Biostatistics Unit, and Translational Research Laboratory, Catalan Institute of Oncology, IDIBELL, L Hospitalet, Barcelona, Spain
    BMC Genomics 9:12. 2008
    ..Variation at 8q24 has also recently been associated with risk of breast and colorectal cancer. However, none of the risk variants map at or relatively close to known genes, with c-MYC mapping a few hundred kilobases distally...
  76. ncbi request reprint Positive selection and gene conversion drive the evolution of a brain-expressed snoRNAs cluster
    Miroslava Ogorelkova
    Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation CRG, Barcelona, Spain
    Mol Biol Evol 26:2563-71. 2009
    ..Consistent with this, we detect punctual breaks of LD at gene conversion sites while the overall LD at the HBII-52 cluster is high in both study populations...
  77. pmc SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells
    Lorena Pantano
    Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation, Pompeu Fabra University, Barcelona, Catalonia, Spain
    Nucleic Acids Res 38:e34. 2010
    ..The exhaustive description of the isomiRs provided by SeqBuster could help to identify miRNA-variants that are relevant in physiological and pathological processes. SeqBuster is available at http://estivill_lab.crg.es/seqbuster...
  78. doi request reprint Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder
    Marta Ribases
    Department of Psychiatry, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Biol Psychiatry 63:935-45. 2008
    ....