Giulia Soldà

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. pmc A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
    Giulia Soldà
    Dipartimento di Biologia e Genetica per Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Hum Mol Genet 21:577-85. 2012
  2. pmc Non-random retention of protein-coding overlapping genes in Metazoa
    Giulia Soldà
    1Department of Biology and Genetics for Medical Sciences, University of Milan, 20133 Milan, Italy
    BMC Genomics 9:174. 2008
  3. doi request reprint An Ariadne's thread to the identification and annotation of noncoding RNAs in eukaryotes
    Giulia Soldà
    Department of Biology and Genetics for Medical Sciences, University of Milano, 20133 Milan, Italy
    Brief Bioinform 10:475-89. 2009
  4. doi request reprint Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA
    Rosanna Asselta
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Blood 115:2065-72. 2010
  5. pmc A transcriptional sketch of a primary human breast cancer by 454 deep sequencing
    Alessandro Guffanti
    Institute of Biomedical Technologies, National Research Council, Milan, Italy
    BMC Genomics 10:163. 2009
  6. pmc Glucocerebrosidase mutations in primary parkinsonism
    Rosanna Asselta
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milano, Italy
    Parkinsonism Relat Disord 20:1215-20. 2014
  7. pmc Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript
    Valeria Rimoldi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    PLoS ONE 8:e59333. 2013
  8. doi request reprint Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
    Valeria Rimoldi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    Gene 537:79-84. 2014
  9. doi request reprint Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene
    Lucy Costantino
    Medical Genetics Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Am J Respir Cell Mol Biol 48:619-25. 2013
  10. pmc Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes
    Elvezia Maria Paraboschi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, via Viotti 3 5, Milan 20133, Italy
    Int J Mol Sci 16:23463-81. 2015

Collaborators

Detail Information

Publications18

  1. pmc A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
    Giulia Soldà
    Dipartimento di Biologia e Genetica per Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Hum Mol Genet 21:577-85. 2012
    ..In conclusion, we provide further evidence of the involvement of miR-96 mutations in human deafness and demonstrate that a quantitative defect of this miRNA may contribute to NSHL...
  2. pmc Non-random retention of protein-coding overlapping genes in Metazoa
    Giulia Soldà
    1Department of Biology and Genetics for Medical Sciences, University of Milan, 20133 Milan, Italy
    BMC Genomics 9:174. 2008
    ..Here we report a comparative analysis of overlaps between genes coding for well-annotated proteins in five metazoan genomes (human, mouse, zebrafish, fruit fly and worm)...
  3. doi request reprint An Ariadne's thread to the identification and annotation of noncoding RNAs in eukaryotes
    Giulia Soldà
    Department of Biology and Genetics for Medical Sciences, University of Milano, 20133 Milan, Italy
    Brief Bioinform 10:475-89. 2009
    ....
  4. doi request reprint Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA
    Rosanna Asselta
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Blood 115:2065-72. 2010
    ..Traces of this FXI isoform were detectable in human plasma. Our results suggest that the coupling of alternative splicing and NMD may play a role in regulating F11 expression, and point to the existence of a novel FXI isoform...
  5. pmc A transcriptional sketch of a primary human breast cancer by 454 deep sequencing
    Alessandro Guffanti
    Institute of Biomedical Technologies, National Research Council, Milan, Italy
    BMC Genomics 10:163. 2009
    ..This method utilizes a cDNA library normalization step to diminish the representation of highly expressed transcripts and biology-oriented bioinformatic analyses to facilitate detection of rare and novel transcripts...
  6. pmc Glucocerebrosidase mutations in primary parkinsonism
    Rosanna Asselta
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milano, Italy
    Parkinsonism Relat Disord 20:1215-20. 2014
    ..Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism...
  7. pmc Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript
    Valeria Rimoldi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    PLoS ONE 8:e59333. 2013
    ..Taken together, our results indicate a major role of hnRNP F in regulating FGG pseudoexon inclusion, and strengthen the notion that G-runs may function either as splicing enhancers or silencers of the same exon...
  8. doi request reprint Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
    Valeria Rimoldi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    Gene 537:79-84. 2014
    ....
  9. doi request reprint Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene
    Lucy Costantino
    Medical Genetics Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Am J Respir Cell Mol Biol 48:619-25. 2013
    ..Interestingly, the residual wild-type splicing detected in transcripts bearing the c.1584+18672A>G mutation correlates well with the milder clinical phenotype of patients...
  10. pmc Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes
    Elvezia Maria Paraboschi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, via Viotti 3 5, Milan 20133, Italy
    Int J Mol Sci 16:23463-81. 2015
    ..In conclusion, for the first time we provide evidence of a consistent dysregulation of splicing-related genes in MS and we discuss its possible implications in modulating specific AS events in MS susceptibility genes...
  11. pmc The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
    Michela Robusto
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    Eur J Hum Genet 23:766-73. 2015
    ....
  12. doi request reprint Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency
    Rosanna Asselta
    Prof Stefano Duga, PhD, Department of Medical Biotechnology and Translational Medicine, University of Milan, via Viotti 3 5, 20133 Milan, Italy, Tel 39 02 50315823, Fax 39 02 50315864, E mail
    Thromb Haemost 113:567-76. 2015
    ..The high number of private mutations identified in the analysed probands indicates that the full mutational screening of the three fibrinogen genes is still required for molecular diagnosis. ..
  13. pmc SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
    Luca Trotta
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Parkinsonism Relat Disord 18:257-62. 2012
    ..An evaluation of gene-gene and gene-environment interactions in association with PD was also attempted...
  14. doi request reprint Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis
    Elvezia M Paraboschi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milano 20133, Italy
    Hum Mol Genet 23:6746-61. 2014
    ....
  15. doi request reprint Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect
    Ilaria Guella
    Dept of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133, Milan, Italy
    Thromb Haemost 99:523-30. 2008
    ..Moreover, we report a novel missense mutation in the FIX-binding region of the FXI A3 domain leading to a CRM+ deficiency...
  16. ncbi request reprint In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs
    Giulia Soldà
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Gene 345:155-64. 2005
    ..A semi-quantitative analysis of overlapping transcript levels was performed by real-time RT-PCR. Possible consequences of sense-antisense interaction are discussed...
  17. pmc In-depth characterization of breast cancer tumor-promoting cell transcriptome by RNA sequencing and microarrays
    Maurizio Callari
    Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
    Oncotarget 7:976-94. 2016
    ....
  18. pmc Genetic association and altered gene expression of mir-155 in multiple sclerosis patients
    Elvezia Maria Paraboschi
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milano, Italia Via Viotti 3 5, Milan 20133, Italy
    Int J Mol Sci 12:8695-712. 2011
    ..035; OR = 1.36, 95% CI = 1.05-1.77), suggesting that this locus strongly deserves further investigations...