Rachele Cagliani

Summary

Affiliation: Bosisio Parini
Country: Italy

Publications

  1. ncbi request reprint A CAV3 microdeletion differentially affects skeletal muscle and myocardium
    R Cagliani
    I R C C S E Medea, Bosisio Parini, Italy
    Neurology 61:1513-9. 2003
  2. ncbi request reprint Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population
    R Cagliani
    IRCCS E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842 Bosisio Parini LC, Italy
    Neuromuscul Disord 13:788-95. 2003
  3. ncbi request reprint An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype
    Rachele Cagliani
    I R C C S E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842, Bosisio Parini LC, Italy
    Hum Genet 115:13-8. 2004
  4. doi request reprint Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes
    Matteo Fumagalli
    Bioinformatic Lab, Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico E Medea, Bosisio Parini, Lecco, Italy
    Mol Biol Evol 27:2555-66. 2010
  5. doi request reprint A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection
    Rachele Cagliani
    Scientific Institute IRCCS E Medea, via Don L Monza 20, Bosisio Parini LC, Italy
    Evolution 65:3311-22. 2011
  6. pmc A complex selection signature at the human AVPR1B gene
    Rachele Cagliani
    Scientific Institute IRCCS E, Medea, Bioinformatic Lab, Bosisio Parini, LC, Italy
    BMC Evol Biol 9:123. 2009
  7. ncbi request reprint Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7
    Rachele Cagliani
    Bioinformatic Laboratory, Scientific Institute IRCCS E Medea, Bosisio Parini LC, Italy
    Mol Biol Evol 27:1945-54. 2010
  8. doi request reprint Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations
    Rachele Cagliani
    Bioinformatics, Scientific Institute IRCCS E Medea, Bosisio Parini LC, Italy
    Mol Biol Evol 30:1397-408. 2013
  9. ncbi request reprint Intron size in mammals: complexity comes to terms with economy
    Uberto Pozzoli
    Bioinformatic Laboratory, Scientific Institute IRCCS E Medea, via Don L Monza 20, 23842 Bosisio Parini LC, Italy
    Trends Genet 23:20-4. 2007
  10. doi request reprint Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis
    Rachele Cagliani
    Bioinformatic Lab, Scientific Institute IRCCS E Medea, via Don L Monza 20, 23842, Bosisio Parini, LC, Italy
    Hum Genet 131:87-97. 2012

Collaborators

Detail Information

Publications38

  1. ncbi request reprint A CAV3 microdeletion differentially affects skeletal muscle and myocardium
    R Cagliani
    I R C C S E Medea, Bosisio Parini, Italy
    Neurology 61:1513-9. 2003
    ....
  2. ncbi request reprint Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population
    R Cagliani
    IRCCS E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842 Bosisio Parini LC, Italy
    Neuromuscul Disord 13:788-95. 2003
    ..The possible existence of a founder effect for the Arg959Trp mutation in the Italian population is discussed...
  3. ncbi request reprint An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype
    Rachele Cagliani
    I R C C S E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842, Bosisio Parini LC, Italy
    Hum Genet 115:13-8. 2004
    ..This case might provide further insight into both the mechanisms that determine genomic rearrangements in the DMD locus and the molecular signals that drive exon inclusion...
  4. doi request reprint Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes
    Matteo Fumagalli
    Bioinformatic Lab, Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico E Medea, Bosisio Parini, Lecco, Italy
    Mol Biol Evol 27:2555-66. 2010
    ....
  5. doi request reprint A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection
    Rachele Cagliani
    Scientific Institute IRCCS E Medea, via Don L Monza 20, Bosisio Parini LC, Italy
    Evolution 65:3311-22. 2011
    ..Our data represent an example of how the selective pressures exerted by extinct or unknown viral agents can be exploited to provide valuable information on the allelic determinants of susceptibility to modern infections...
  6. pmc A complex selection signature at the human AVPR1B gene
    Rachele Cagliani
    Scientific Institute IRCCS E, Medea, Bioinformatic Lab, Bosisio Parini, LC, Italy
    BMC Evol Biol 9:123. 2009
    ....
  7. ncbi request reprint Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7
    Rachele Cagliani
    Bioinformatic Laboratory, Scientific Institute IRCCS E Medea, Bosisio Parini LC, Italy
    Mol Biol Evol 27:1945-54. 2010
    ..These data highlight the contribution of population genetics approaches to the analysis of functional genetic variation and may orient further biochemical and genetics studies on the pathophysiologic role of CPB2 gene products...
  8. doi request reprint Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations
    Rachele Cagliani
    Bioinformatics, Scientific Institute IRCCS E Medea, Bosisio Parini LC, Italy
    Mol Biol Evol 30:1397-408. 2013
    ..This is in line with evidences suggesting a central role for kininogen in modulating of immune response and with its being a target of an extremely diverse array of pathogen species...
  9. ncbi request reprint Intron size in mammals: complexity comes to terms with economy
    Uberto Pozzoli
    Bioinformatic Laboratory, Scientific Institute IRCCS E Medea, via Don L Monza 20, 23842 Bosisio Parini LC, Italy
    Trends Genet 23:20-4. 2007
    ....
  10. doi request reprint Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis
    Rachele Cagliani
    Bioinformatic Lab, Scientific Institute IRCCS E Medea, via Don L Monza 20, 23842, Bosisio Parini, LC, Italy
    Hum Genet 131:87-97. 2012
    ....
  11. ncbi request reprint Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing
    Uberto Pozzoli
    Scientific Institute IRCCS E Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini LC, Italy
    Biochem Biophys Res Commun 322:470-6. 2004
    ..These observations suggest that SR proteins (and possibly other splicing factors) play a role in cellular processes distinct from splicing...
  12. pmc The signature of long-standing balancing selection at the human defensin beta-1 promoter
    Rachele Cagliani
    Scientific Institute IRCCS E, Medea, Bioinformatic Lab, Bosisio Parini LC, Italy
    Genome Biol 9:R143. 2008
    ....
  13. ncbi request reprint Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot
    Manuela Sironi
    IRCCS E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842, Bosisio Parini LC, Italy
    Hum Genet 112:272-88. 2003
    ..This study highlights the importance of a whole gene approach to rule out the presumptive role of specific features that, when locally analyzed, might suggest involvement in gene rearrangements...
  14. pmc An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection
    Diego Forni
    Scientific Institute IRCCS E Medea, Bioinformatics, Bosisio Parini, Italy
    PLoS Genet 10:e1004189. 2014
    ..Thus, we used evolutionary information to generate experimentally-testable hypotheses and to provide a list of sites to prioritize in follow-up analyses. ..
  15. doi request reprint Crohn's disease loci are common targets of protozoa-driven selection
    Rachele Cagliani
    Bioinformatics Laboratory, Scientific Institute IRCCS E Medea, Bosisio Parini, LC, Italy
    Mol Biol Evol 30:1077-87. 2013
    ..Thus, we show that protozoa-driven selective pressure had a major role in shaping predisposition to CD. We next used this information for the identification of three bona fide novel susceptibility loci...
  16. pmc Silencer elements as possible inhibitors of pseudoexon splicing
    Manuela Sironi
    IRCCS E Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini, LC, Italy
    Nucleic Acids Res 32:1783-91. 2004
    ....
  17. pmc Both selective and neutral processes drive GC content evolution in the human genome
    Uberto Pozzoli
    Scientific Institute IRCCS E, Medea, Bioinformatic Lab, Via don L, Monza 20, 23842 Bosisio Parini LC, Italy
    BMC Evol Biol 8:99. 2008
    ..Mammalian genomes consist of regions differing in GC content, referred to as isochores or GC-content domains. The scientific debate is still open as to whether such compositional heterogeneity is a selected or neutral trait...
  18. ncbi request reprint Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences
    Manuela Sironi
    Scientific Institute IRCCS E Medea, 23842 Bosisio Parini LC, Italy
    Hum Mol Genet 14:2533-46. 2005
    ....
  19. pmc Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature
    Uberto Pozzoli
    IRCCS E Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini LC, Italy
    Genome Res 13:764-72. 2003
    ..The hypothesis that intron length might be functionally relevant to the DMD gene regulation is proposed and substantiated by the finding that dystrophin intron gigantism is common to the three vertebrate genes...
  20. ncbi request reprint Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies
    Rachele Cagliani
    IRCCS E Medea, Associazione La Nostra Famiglia, Bosisio Parini, Lecco, Italy
    Hum Mutat 26:283. 2005
    ..The positive correlation between annexin A1 and A2 and clinical severity, as well as muscle histopathology, suggests that their level may be a prognostic indicator of disease...
  21. pmc Widespread balancing selection and pathogen-driven selection at blood group antigen genes
    Matteo Fumagalli
    Scientific Institute IRCCS E Medea, Bioinformatic Lab, 23842 Bosisio Parini LC, Italy
    Genome Res 19:199-212. 2009
    ....
  22. doi request reprint Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection
    Rachele Cagliani
    Bioinformatic Laboratory, Scientific Institute IRCCS E Medea, via Don L Monza 20, Bosisio Parini LC, Italy
    Hum Mol Genet 19:4705-14. 2010
    ....
  23. doi request reprint Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations
    Rachele Cagliani
    Scientific Institute IRCCS E Medea, Bioinformatic Laboratory, Bosisio Parini LC, Italy
    Pharmacogenet Genomics 20:131-4. 2010
    ..The aim of our study was to verify whether the Alu insertion/deletion (Alu I/D) polymorphism or any linked variant has been maintained by natural selection in human populations...
  24. pmc Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach
    Matteo Fumagalli
    Scientific Institute IRCCS E Medea, Bioinformatic Lab, Bosisio Parini LC, Italy
    PLoS Genet 6:e1000849. 2010
    ....
  25. pmc Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors
    Rachele Cagliani
    Bioinformatics Laboratory, Scientific Institute IRCCS E Medea, Bosisio Parini LC, Italy
    Genome Biol Evol 6:830-45. 2014
    ..We propose that the underlying scenario is the result of an ancestral and still ongoing host-pathogen arms race and that the maintenance of susceptibility alleles for autoimmune diseases at IFI16 represents an evolutionary trade-off...
  26. doi request reprint Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease
    Rachele Cagliani
    Scientific Institute IRCCS E Medea, Bosisio Parini, Italy
    Hum Mutat 34:743-53. 2013
    ..The selection signature associated with THBS4 might not be related to AD pathogenesis, but rather to inflammatory responses...
  27. pmc Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns
    Manuela Sironi
    Scientific Institute IRCCS E Medea, Bioinformatic Lab, Via don L Monza, 23842 Bosisio Parini LC, Italy
    Genome Biol 7:R120. 2006
    ..Both parasitic and mutualistic features have been shown to apply to the host-TE relationship but a comprehensive scenario of the forces driving TE fixation within mammalian genes is still missing...
  28. doi request reprint The role of protozoa-driven selection in shaping human genetic variability
    Uberto Pozzoli
    Scientific Institute IRCCS E Medea, Bioinformatic Laboratory, via Don L Monza 20, 23842 Bosisio Parini LC, Italy
    Trends Genet 26:95-9. 2010
    ..We provide a genome-wide estimate of protozoa-driven selective pressure and identify candidate susceptibility genes for protozoa-borne diseases...
  29. ncbi request reprint Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics
    Manuela Sironi
    Scientific Institute IRCCS E, Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini LC, Italy
    Trends Genet 21:484-8. 2005
    ..Analysis of TE and MCS distribution suggested an unprecedented estimate of information requirements for proper splicing of long introns with indication of sequence constraints extending up to >3 kb downstream 5' splice sites...
  30. ncbi request reprint RIG-I-like receptors evolved adaptively in mammals, with parallel evolution at LGP2 and RIG-I
    Rachele Cagliani
    Scientific Institute, IRCCS Eugenio Medea, 23842 Bosisio Parini LC, Italy
    J Mol Biol 426:1351-65. 2014
    ....
  31. doi request reprint Genetic variability at the TREX1 locus is not associated with natural resistance to HIV-1 infection
    Manuela Sironi
    Scientific Institute IRCCS E Medea, Bosisio Parini, Lecco, Italy
    AIDS 26:1443-5. 2012
    ....
  32. doi request reprint Variants in SNAP25 are targets of natural selection and influence verbal performances in women
    Rachele Cagliani
    Bioinformatic Lab, Scientific Institute IRCCS E Medea, via Don L Monza 20, Bosisio Parini, LC, Italy
    Cell Mol Life Sci 69:1705-15. 2012
    ..Although caution should be used in inferring selective pressures from observed signatures, SNAP25 might represent the first description of an adaptively evolving gene with a role in cognition...
  33. doi request reprint An evolutionary analysis of RAC2 identifies haplotypes associated with human autoimmune diseases
    Manuela Sironi
    Bioinformatics Laboratory, Scientific Institute IRCCS E Medea, Bosisio Parini LC, Italy
    Mol Biol Evol 28:3319-29. 2011
    ..Other genes with a role in RICD have previously been associated with autoimmunity in humans, suggesting that this pathway and RAC2 may represent novel therapeutic targets in autoimmune disorders...
  34. pmc Comparative analysis of the human dystrophin and utrophin gene structures
    Uberto Pozzoli
    IRCCS E Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini, LC, Italy
    Genetics 160:793-8. 2002
    ..Out-of-frame rod-domain exons have stronger splice sites and are separated by significantly longer introns as compared to in-frame exons. These features are unique for the two homologs and not shared by other spectrin superfamily genes...
  35. pmc Pathogen-driven selection in the human genome
    Rachele Cagliani
    Bioinformatics, Scientific Institute IRCCS E Medea, 23842 Bosisio Parini LC, Italy
    Int J Evol Biol 2013:204240. 2013
    ..Hopefully, this will help identify the genetic determinants modulating the susceptibility to infectious diseases and will translate into new treatment strategies...
  36. ncbi request reprint Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
    Michela Guglieri
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Milano, Italy
    Hum Mutat 29:258-66. 2008
    ..1 years vs. 36.7+/-11.1 years; P=0.0037). Similarly, dysferlin absence was associated with an earlier onset when compared to partial deficiency (20.2+/-standard deviation [SD] 5.2 years vs. 28.4+/-SD 11.2 years; P=0.014)...
  37. ncbi request reprint Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene
    Costanza Lamperti
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unità Operativa Neurologia, Fondazione I R C C S Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, University of Milan, Milan, Italy
    J Neurol Sci 243:47-51. 2006
    ..The analysis of FKRP, LARGE, POMT1 and POMGnT1 genes did not show any pathogenic mutations, suggesting that at least another gene may account for CMD with secondary glycosylated alpha-DG deficiency...
  38. ncbi request reprint Calpain 3 deficiency in Quail Eater's disease
    Olimpia Musumeci
    Ann Neurol 55:146-7. 2004