Rosanna Asselta

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. 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
  2. pmc Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis
    Donato Gemmati
    Department of Biomedical Sciences and Advanced Therapies, Hematology Unit Center Hemostasis and Thrombosis, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:70. 2012
  3. 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
  4. ncbi request reprint Molecular genetics of quantitative fibrinogen disorders
    R Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milano, Italy
    Cardiovasc Hematol Agents Med Chem 5:163-73. 2007
  5. doi request reprint Factor V deficiency
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, 20133 Milan, Italy
    Semin Thromb Hemost 35:382-9. 2009
  6. ncbi request reprint Factor X Shanghai: a mutation disrupting translocation to the endoplasmic reticulum
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Haematologica 90:1590. 2005
  7. ncbi request reprint Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
    Maria Claudia Montefusco
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 102:3210-6. 2003
  8. ncbi request reprint Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene
    Luca Monaldini
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Haematologica 91:628-33. 2006
  9. ncbi request reprint Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 100:4478-84. 2002
  10. doi request reprint Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion
    Manuela Platè
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milan, Italy
    Blood Cells Mol Dis 41:292-7. 2008

Collaborators

Detail Information

Publications43

  1. 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...
  2. pmc Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis
    Donato Gemmati
    Department of Biomedical Sciences and Advanced Therapies, Hematology Unit Center Hemostasis and Thrombosis, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:70. 2012
    ..Conversely, systemic iron overload is not always observed. We explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes in MS patients...
  3. 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...
  4. ncbi request reprint Molecular genetics of quantitative fibrinogen disorders
    R Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milano, Italy
    Cardiovasc Hematol Agents Med Chem 5:163-73. 2007
    ....
  5. doi request reprint Factor V deficiency
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, 20133 Milan, Italy
    Semin Thromb Hemost 35:382-9. 2009
    ..This article will provide a concise description of the FV protein and gene and will review the molecular, clinical, and therapeutic aspects of FV deficiency...
  6. ncbi request reprint Factor X Shanghai: a mutation disrupting translocation to the endoplasmic reticulum
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Haematologica 90:1590. 2005
  7. ncbi request reprint Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
    Maria Claudia Montefusco
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 102:3210-6. 2003
    ..The high number of "private" mutations identified in FV-deficient families indicates that full mutational screening of FV gene is still required for molecular diagnosis...
  8. ncbi request reprint Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene
    Luca Monaldini
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Haematologica 91:628-33. 2006
    ..So far, 57 mutations have been associated with these disorders, and 18 of these are missense mutations. The aim of this study was to characterize the molecular mechanism underlying severe hypofibrinogenemia in a proband from India...
  9. ncbi request reprint Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 100:4478-84. 2002
    ..Both mutations are predicted to determine protein truncations, supporting the importance of the C-terminal domain of the Bbeta chain for fibrinogen assembly and secretion...
  10. doi request reprint Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion
    Manuela Platè
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milan, Italy
    Blood Cells Mol Dis 41:292-7. 2008
    ..Both mutations were demonstrated to cause a severe impairment of intracellular fibrinogen processing, either by affecting half-molecule dimerization (alphaCys45Phe) or by hampering hexamer secretion (gammaAsn345Ser)...
  11. ncbi request reprint Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Blood 103:3051-4. 2004
    ..This represents the first exonic splicing mutation identified in the fibrinogen genes. These findings strengthen the importance to analyze potentially pathogenetic nucleotide variations at both the protein and the mRNA level...
  12. ncbi request reprint Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Eur J Hum Genet 12:891-8. 2004
    ..In silico analyses of the regions surrounding the breakpoints suggested that the 15-kb deletion might have originated from an inappropriate repair of a double-strand break by the nonhomologous end joining mechanism...
  13. 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...
  14. ncbi request reprint Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects
    Luca Monaldini
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, Milan, Italy
    Thromb Haemost 97:546-51. 2007
    ..The molecular characterization of CAF-causing genetic defects increases our understanding on the genetic basis of this disease and might be helpful for prenatal screening purposes, as also demonstrated during this study...
  15. ncbi request reprint Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milan, Italy
    Biochim Biophys Acta 1639:87-94. 2003
    ..These data, besides elucidating the pathogenetic role of the W437G mutation in afibrinogenemia, underline the importance of the Bbeta-chain D domain in fibrinogen folding and secretion...
  16. ncbi request reprint Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein
    Stefano Duga
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 101:173-7. 2003
    ..These findings, beside confirming the structural and functional importance of the arginine 2074 residue, demonstrate that its substitution with a cysteine impairs both FV secretion and activity...
  17. ncbi request reprint A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency
    Cristina Bozzao
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    FEBS J 274:6128-38. 2007
    ..Expression experiments of the FXI-Val371Ile recombinant protein, followed by activation assays, showed both a different time course in FXI activation and a slight delay in factor IX activation by thrombin-activated FXI...
  18. pmc Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population
    Ilaria Guella
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    J Lipid Res 51:3342-9. 2010
    ..We confirmed that the L46 allele not only decreases LDL cholesterol but also protects against MI. Moreover, we replicated the association of total and LDL cholesterol with the SNP rs11206510...
  19. ncbi request reprint Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto
    Manuela Platè
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Blood Coagul Fibrinolysis 20:381-4. 2009
    ..This information will be useful to direct future genetic screenings in patients coming from the same geographic area...
  20. ncbi request reprint Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Br J Haematol 139:128-32. 2007
    ..Its effect on mRNA processing was evaluated in-vitro: the in-frame inclusion of a 75-bp pseudo-exon carrying a premature stop was found, representing the first report of pseudo-exon activation as a mechanism leading to afibrinogenaemia...
  21. doi request reprint Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians
    Giorgia Zadra
    Department of Biology and Genetics for Medical Sciences, via Viotti 3 5, 20133 Milan, Italy
    Haematologica 93:715-21. 2008
    ....
  22. doi request reprint Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency
    Ilaria Guella
    Dipartimento di Biologia e Genetica per Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Thromb Haemost 106:296-303. 2011
    ..Low levels of residual wild-type splicing were also detectable, in agreement with the notion that the complete absence of FV may be not compatible with life...
  23. doi request reprint Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population
    Ilaria Guella
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milano, Italy
    Thromb Haemost 106:655-64. 2011
    ..69-fold increased risk for MI compared with those in the lowest quintile. Our results suggest that a GRS, based on the combined effect of several risk alleles in different haemostatic genes, is associated with an increased risk of MI...
  24. ncbi request reprint Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient
    Manuela Platè
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Biochim Biophys Acta 1772:781-7. 2007
    ..Western blot analysis on the proband's plasma confirmed the presence in vivo of the trimeric fibrinogen, supporting the hypothesis that Met51Arg prevents the final step of fibrinogen assembly...
  25. 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...
  26. doi request reprint Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern
    Claudia Dall'Osso
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Haematologica 93:1505-13. 2008
    ..In the present study, we investigated the molecular basis of factor V deficiency in three patients, and performed a comprehensive analysis of the factor V gene (F5) splicing pattern...
  27. ncbi request reprint Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients
    Giorgia Zadra
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Haematologica 89:1332-40. 2004
    ..The aim of this study was to analyze the molecular basis of FXI deficiency in six unrelated Italian probands with severe deficiency, a population hitherto largely unexplored...
  28. pmc Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism
    Maria Carla Proverbio
    Dipartimento di Fisiopatologia e dei Trapianti DePT, Universita degli Studi di Milano, Milan, Italy
    PLoS ONE 8:e68740. 2013
    ....
  29. 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...
  30. doi request reprint Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene
    Ilaria Guella
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Neurobiol Aging 32:1994-2005. 2011
    ..These data, together with those recently reported by other groups, suggest that GIGYF2 is unlikely to be the PARK11 gene...
  31. 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
    ....
  32. doi request reprint Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients
    Maria Solimando
    Dipartimento di Medicina Interna, Universita degli Studi di Milano, Milan, Italy
    Am J Hematol 87:870-4. 2012
    ..This study extends our previous finding that most of the mutations that we identified in VWD3 patients arise independently and are scattered throughout the entire VWF gene...
  33. 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...
  34. ncbi request reprint Coagulation factor V
    Stefano Duga
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Int J Biochem Cell Biol 36:1393-9. 2004
    ..This review focuses on the structure, function (procoagulant and anticoagulant), regulation (activation and inactivation) of FV as well as on the genetic defects associated with mutations in the FV gene...
  35. doi request reprint Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease
    Ilaria Guella
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, Milan, Italy
    Circ Cardiovasc Genet 2:165-72. 2009
    ..However, the association of MEF2A with coronary artery disease/MI was not confirmed in other studies. We analyzed the role of MEF2A in the pathogenesis of MI in 2008 Italian patients with premature MI and in 2008 controls...
  36. ncbi request reprint Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Haematologica 87:855-9. 2002
    ..The aim of this work was to widen knowledge about the mutational spectrum of this disease by analyzing the molecular bases of congenital afibrinogenemia in three unrelated Iranian patients...
  37. ncbi request reprint Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
    Maria Teresa Bonati
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    J Neurol 249:967-74. 2002
    ..These findings support the hypothesis that genes different from those coding for alpha2-7 and beta2-4 neuronal nAChR subunits could be responsible for ADNFLE...
  38. 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...
  39. doi request reprint Genetic analysis of Italian patients with congenital hyperinsulinism of infancy
    Paola Sogno Valin
    Department of Pediatrics, San Raffaele Scientific Institute, Milan, Italy
    Horm Res Paediatr 79:236-42. 2013
    ..Congenital hyperinsulinism of infancy is a rare disease that needs prompt treatment to avoid brain damage. There are currently no data regarding the clinical and molecular features of Italian patients...
  40. pmc Phase behavior and critical activated dynamics of limited-valence DNA nanostars
    Silvia Biffi
    Department of Medical Biotechnology and Translational Medicine, Universita degli Studi di Milano, I 20133 Milan, Italy
    Proc Natl Acad Sci U S A 110:15633-7. 2013
    ....
  41. ncbi request reprint A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency
    Giulia Soldà
    Haematologica 90:1716-8. 2005
    ..Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA...
  42. ncbi request reprint Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation
    Rosanna Asselta
    Haematologica 89:761-2. 2004
    ....
  43. ncbi request reprint Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene
    Ute Albrecht
    Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich Heine University, 40255 Düsseldorf, Germany
    Cell Signal 19:1866-78. 2007
    ....