Xavier Estivill

Summary

Affiliation: Center for Genomic Regulation
Country: Spain

Publications

  1. ncbi Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
    Joseph Cheung
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Genome Biol 4:R25. 2003
  2. ncbi Human genetics moves from clinic to bench--and back
    Miroslava Ogorelkova
    Genes and Disease Program, Center for Genomic Regulation (CRG, Barcelona Biomedical Research Park, Barcelona, 08003 Spain
    Genome Biol 6:343. 2005
  3. ncbi 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
  4. ncbi X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
    I Madrigal
    Biochemistry and Molecular Genetics Department, Hospital Clinic and IDIBAPS Institut d Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain
    BMC Genomics 8:443. 2007
  5. ncbi 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
  6. ncbi Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability
    Ester Ballana
    Genes and Disease Program, Center for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    BMC Genomics 8:14. 2007
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Detail Information

Publications110 found, 100 shown here

  1. ncbi Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
    Joseph Cheung
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Genome Biol 4:R25. 2003
    ..Near-identical segmental duplications present a major challenge to the completion of the human genome sequence. Potential sequence misassignments detected in this study would require additional efforts to resolve...
  2. ncbi Human genetics moves from clinic to bench--and back
    Miroslava Ogorelkova
    Genes and Disease Program, Center for Genomic Regulation (CRG, Barcelona Biomedical Research Park, Barcelona, 08003 Spain
    Genome Biol 6:343. 2005
  3. ncbi 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...
  4. ncbi X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
    I Madrigal
    Biochemistry and Molecular Genetics Department, Hospital Clinic and IDIBAPS Institut d Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain
    BMC Genomics 8:443. 2007
    ..We have studied 54 patients with idiopathic mental retardation and 20 controls subjects...
  5. ncbi 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...
  6. ncbi Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability
    Ester Ballana
    Genes and Disease Program, Center for Genomic Regulation CRG, Barcelona, Catalonia, Spain
    BMC Genomics 8:14. 2007
    ..CNVs involving immune genes, such as alpha-defensins, are possibly contributing to innate immunity differences observed between individuals and influence predisposition and susceptibility to disease...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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
  10. ncbi 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
    ....
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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
    ....
  14. ncbi 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
    ....
  15. ncbi 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
    ....
  16. ncbi 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...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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...
  20. ncbi 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
    ....
  21. ncbi 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...
  22. ncbi 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...
  23. ncbi 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...
  24. ncbi 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...
  25. ncbi 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
    ....
  26. ncbi 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...
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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...
  30. ncbi 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...
  31. ncbi 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...
  32. ncbi 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
    ....
  33. ncbi 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. ncbi Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  35. ncbi 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...
  36. ncbi 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
    ....
  37. ncbi Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment
    Monica Gratacos
    CIBER en Epidemiología y Salud Pública CIBERESP, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet B Neuropsychiatr Genet 150:808-16. 2009
    ..65 and 3.06) to several psychiatric disorders supports the view that a common genetic variant could confer susceptibility to clinically related phenotypes, and defines a new functional hint in the pathophysiology of psychiatric diseases...
  38. ncbi Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
    Lluis Armengol
    Program in Genes and Disease, Center for Genomic Regulation (CRG, Barcelona Biomedical Research Park, , 08003 Barcelona, Catalonia, Spain
    Hum Mol Genet 12:2201-8. 2003
    ..0001). Our data suggest that segmental duplications have participated in the recent evolution of the human genome, as driving forces for evolutionary rearrangements, chromosome structure polymorphisms and genomic disorders...
  39. ncbi 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...
  40. ncbi 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...
  41. ncbi 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
    ....
  42. ncbi 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...
  43. ncbi 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...
  44. ncbi 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...
  45. ncbi Genome assembly comparison identifies structural variants in the human genome
    Razi Khaja
    Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada
    Nat Genet 38:1413-8. 2006
    ..Our results uncover substantial undescribed variation in humans, highlighting the need for comprehensive annotation strategies to fully interpret genome scanning and personalized sequencing projects...
  46. ncbi 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
    ..AVAILABILITY: Package SNPassoc is available at CRAN from http://cran.r-project.org. SUPPLEMENTARY INFORMATION: A tutorial is available on Bioinformatics online and in http://davinci.crg.es/estivill_lab/snpassoc...
  47. ncbi Characterization of the segmental duplication LCR7-20 in the human genome
    Xiangdong Liu
    The Centre for Applied Genomics, Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Genomics 83:262-9. 2004
    ..Our study also indicates that many genomic regions containing LCR7-20's either have been misassembled or are missing in current versions of the human genome sequence...
  48. ncbi Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
    Xavier Estivill
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, and Department of Molecular and Medical Genetics, University of Toronto, ON, Canada
    Hum Mol Genet 11:1987-95. 2002
    ....
  49. ncbi Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene
    Olga Bravo
    Otolaryngology Department, , 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...
  50. ncbi 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...
  51. ncbi 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...
  52. ncbi 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, Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública CIBERESP, Molecular and Cellular Neurobiotechnology, Institute of Bioengineering of Catalonia and Department of Cell Biology, University of Barcelona, Barcelona, 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...
  53. ncbi 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...
  54. ncbi 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...
  55. ncbi 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
    ....
  56. ncbi 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...
  57. ncbi 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...
  58. ncbi Cooperation to amplify gene-dosage-imbalance effects
    Susana De La Luna
    ICREA and Gene Function Group, Genes and Disease Program, Center for Genomic Regulation CRG, 08003 Barcelona, Spain
    Trends Mol Med 12:451-4. 2006
    ....
  59. ncbi 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...
  60. ncbi 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...
  61. ncbi 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
    ....
  62. ncbi 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...
  63. ncbi 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...
  64. ncbi Developmental analysis of Lingo-1/Lern1 protein expression in the mouse brain: interaction of its intracellular domain with Myt1l
    Franc Llorens
    Bioinformatics and Genomics Program, Center for Genomic Regulation CRG, UPF, Barcelona 08003, Spain
    Dev Neurobiol 68:521-41. 2008
    ....
  65. ncbi 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
  66. ncbi Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa
    Marta Ribases
    Genes and Disease Program, Center for Genomic Regulation, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain
    J Psychiatr Res 42:50-7. 2008
    ..Our preliminary data suggest that the serotoninergic system contributes to the different psychopathological symptoms that may be partially responsible for the phenotypical variability within the bulimic phenotype...
  67. ncbi 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...
  68. ncbi 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...
  69. ncbi Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
    Vassiliki Fotaki
    Medical and Molecular Genetics Center, Institut de Recerca Oncologica, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Mol Cell Biol 22:6636-47. 2002
    ..These data provide evidence about the nonredundant, vital role of Dyrk1A and suggest a conserved mode of action that determines normal growth and brain size in both mice and flies...
  70. ncbi 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...
  71. ncbi Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea
    Nuria Lopez-Bigas
    Genes and Disease Program, Centre de Regulacio Genomica, Barcelona, Spain
    Mech Dev 119:S111-5. 2002
    ..In the adult cochlea Gjb1 transcripts disappeared while Gjb3 expression remained present in fibrocytes with specific expression patterns...
  72. ncbi 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...
  73. ncbi 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...
  74. ncbi 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
    ....
  75. ncbi Transgenic mice overexpressing the full-length neurotrophin receptor TrkC exhibit increased catecholaminergic neuron density in specific brain areas and increased anxiety-like behavior and panic reaction
    Mara Dierssen
    Genes and Disease Program, Genomic Regulation Center CRG UPF, Barcelona, Biomedical Research Park, E 08003 Barcelona, Catalonia, Spain
    Neurobiol Dis 24:403-18. 2006
    ..Our results demonstrate that the elevated NT3-TrkC tone via overexpression of TrkC in the brain may constitute a molecular mechanism for the expression of anxiety and anxiety...
  76. ncbi Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life
    Lali Genescà
    Genes and Disease Program, Centre de Regulacio Genomica CRG, Passeig Maritim 37 49, 08003 Barcelona, Spain
    Biochem J 374:567-75. 2003
    ....
  77. ncbi Connexin mutations in hearing loss, dermatological and neurological disorders
    Raquel Rabionet
    Deafness Research Group, Genes and Disease Research Program, Center of Genomic Regulation, Barcelona, Spain
    Trends Mol Med 8:205-12. 2002
    ..Understanding the genotype-phenotype correlations in diseases caused by mutations in connexin genes might provide important insight into the mechanisms that lead to these disorders...
  78. ncbi A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
    Nuria Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 19:458. 2002
    ..These GJB4 variants should help to define the putative role of connexin 30.3 in both skin disorders and hearing impairment...
  79. ncbi Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations
    Marta Ribases
    Genes and Disease Program, Center for Genomic Regulation, Barcelona Biomedical Research Park, Barcelona, Spain
    Hum Mol Genet 13:1205-12. 2004
    ..These are the first two variants associated with the pathophysiology of ED in different populations and support a role for BDNF in the susceptibility to aberrant eating behaviors...
  80. ncbi Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment
    Ester Ballana
    Genes and Disease Program, Centre for Genomic Regulation (CRG, Universitat Pompeu Fabra (UPF, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain
    Biochem Biophys Res Commun 341:950-7. 2006
    ..As in the case of mutation A1555G, the underlying phenotype of T1291C is not homogeneous for all family members, providing evidence for the implication of environmental and/or additional genetic factors...
  81. ncbi Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea
    Nuria Lopez-Bigas
    Genes and Disease Program, Centre de Regulacio Genomica, Barcelona, Spain
    Gene Expr Patterns 2:113-7. 2002
    ..In the adult cochlea Gjb1 transcripts disappeared while Gjb3 expression remained present in fibrocytes with specific expression patterns...
  82. ncbi 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...
  83. ncbi 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...
  84. ncbi DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly
    Monica Alvarez
    Program in Genes and Disease, Centre de Regulacio Genomica CRG, Passeig Maritim 37 49, 08003 Barcelona, Spain
    J Cell Sci 116:3099-107. 2003
    ..Thus DYRK1A protein kinase may play a role in regulating the biogenesis of the splicing speckle compartment...
  85. ncbi LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex
    Laura Carim-Todd
    Programme of Bioinformatics and Genomics, Centre de Regulacio Genomica CRG, Passeig Maritim 37 49, 08003 Barcelona, Spain
    Eur J Neurosci 18:3167-82. 2003
    ....
  86. ncbi Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
    Teresa Casals
    Medical and Molecular Genetics Center IRO, Hospital DIR, Barcelona, Spain
    Pancreas 28:374-9. 2004
    ..We have therefore investigated the role of the CFTR gene in a cohort of 68 CP patients...
  87. ncbi Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
    Miguel Angel Pujana
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Gran Via Km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 10:26-35. 2002
    ..LCR15 analysis in non-human primates and age-sequence divergences support a recent origin of this family of segmental duplications through human speciation...
  88. ncbi Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
    Kati Asumalahti
    Department of Medical Genetics and Finnish Genome Center, University of Helsinki, 00014 Helsinki, Finland
    Hum Mol Genet 11:589-97. 2002
    ..These results provide strong evidence for the HCR*WWCC allele as a major genetic determinant for psoriasis, probably by a mechanism impacting on keratinocyte proliferation...
  89. ncbi Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations
    Qingfeng Yan
    Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Biochem Biophys Res Commun 342:1130-6. 2006
    ..These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations...
  90. ncbi Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    Marie Wattenhofer
    Graduate Program of Molecular and Cellular Biology, University of Geneva Medical School, Geneva, Switzerland
    J Mol Med (Berl) 80:124-31. 2002
    ..45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families...
  91. ncbi Case-control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa
    Elena Cellini
    Department of Neurology and Psychiatric Sciences, University of Florence, Florence, Italy
    Psychiatr Genet 16:51-2. 2006
  92. ncbi Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin
    Kelvin J A Davies
    Ethel Percy Andrus Gerontology Center, and Division of Molecular and Computational Biology, The University of Southern California, Los Angeles, CA 90089-0191, USA
    FASEB J 21:3023-8. 2007
  93. ncbi Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
    Min Xin Guan
    Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Am J Hum Genet 79:291-302. 2006
    ..These findings indicate that the mutated TRMU, acting as a modifier factor, modulates the phenotypic manifestation of the deafness-associated 12S rRNA mutations...
  94. ncbi Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression
    Eva Thönnissen
    Institut fur Genetik, Universitat Bonn, Romerstrasse 164, 53117 Bonn, Germany
    Hum Genet 111:190-7. 2002
    ..Our results show that mutations in the connexin26 gene can affect gap junctional intercellular communication at the level of protein translation, trafficking or assembly of hemichannels...
  95. ncbi Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
    Jacques S Beckmann
    Department of Medical Genetics, University of Lausanne and Centre Hospitalier Universitaire Vaudois, 2 Avenue Pierre Decker, 1011 Lausanne, Switzerland
    Nat Rev Genet 8:639-46. 2007
    ..This will also enable systematic exploration of both SNPs and CNVs in association studies to identify the genomic contributors to the common disorders and complex traits...
  96. ncbi Global variation in copy number in the human genome
    Richard Redon
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 444:444-54. 2006
    ..The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies...
  97. ncbi Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
    Violaine Goidts
    Department of Human Genetics, University of Ulm, Albert Einstein Allee, 11, 89081 Ulm, Germany
    Hum Genet 119:185-98. 2006
    ..The association of human-specific copy number gains with chromosomal breakpoints emphasizes their potential importance in mediating karyotypic evolution as well as in promoting human genomic diversity...
  98. ncbi Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
    Yelena Bykhovskaya
    Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center and David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
    Mol Genet Metab 83:199-206. 2004
    ..This conclusion was supported by comparing linkage results of simulated genotypes with actual results for the four genes involved in mitochondrial RNA modification...
  99. ncbi Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome
    Jon Ortiz-Abalia
    Programa Gens i Malaltia Centre de Regulació Genòmica CRG, UPF, Parc de Recerca Biomédica de Barcelona PRBB, Barcelona 08003, Spain
    Am J Hum Genet 83:479-88. 2008
    ..Furthermore, these results identify Dyrk1A as a potential target for therapy in DS...
  100. ncbi Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation
    Yelena Bykhovskaya
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, CA, USA
    Mol Genet Metab 82:27-32. 2004
    ..These data provide suggestive evidence that TFB1M is a nuclear-encoded modifier gene for phenotypic expression of the A1555G mutation, and that the effect may occur through a regulatory or splicing mutation...