Marguerite Neerman-Arbez

Summary

Affiliation: University of Geneva
Country: Switzerland

Publications

  1. ncbi The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Eur J Hum Genet 7:897-902. 1999
  2. ncbi Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells
    Marguerite Neerman-Arbez
    Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland
    Blood 104:3618-23. 2004
  3. ncbi Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 96:149-52. 2000
  4. ncbi Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
    M Neerman-Arbez
    Centre Medical Universitaire, Geneva, Switzerland
    Hum Genet 108:237-40. 2001
  5. ncbi Fibrinogen gene mutations accounting for congenital afibrinogenemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School, Geneva, Switzerland
    Ann N Y Acad Sci 936:496-508. 2001
  6. ncbi The molecular basis of inherited afibrinogenaemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School, Geneva, Switzerland
    Thromb Haemost 86:154-63. 2001
  7. ncbi Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations
    Marguerite Neerman-Arbez
    Department of Genetic Medicine and Development, University Medical School, University of Geneva, Geneva, Switzerland
    Hum Mutat 28:540-53. 2007
  8. ncbi Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family
    Marguerite Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 101:3492-4. 2003
  9. ncbi Molecular basis of fibrinogen deficiency
    Marguerite Neerman-Arbez
    Department of Genetic Medicine and Development, University Medical School and Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
    Pathophysiol Haemost Thromb 35:187-98. 2006
  10. pmc Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'
    Silja Vorjohann
    Department of Genetic Medicine and Development, University of Geneva Medical Centre, Geneva, Switzerland
    Thromb Haemost 104:990-7. 2010

Collaborators

Detail Information

Publications39

  1. ncbi The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Eur J Hum Genet 7:897-902. 1999
    ..Analysis with closely linked flanking polymorphic markers revealed the existence of at least two haplotypes, further suggesting independent origins of the deletions in this family...
  2. ncbi Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells
    Marguerite Neerman-Arbez
    Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland
    Blood 104:3618-23. 2004
    ....
  3. ncbi Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 96:149-52. 2000
    ..Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia...
  4. ncbi Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
    M Neerman-Arbez
    Centre Medical Universitaire, Geneva, Switzerland
    Hum Genet 108:237-40. 2001
    ..Eight novel mutations were identified: five in FGA and three in FGG. Sufficient mutation data is now available to permit an effective strategy for the genetic diagnosis of congenital afibrinogenemia...
  5. ncbi Fibrinogen gene mutations accounting for congenital afibrinogenemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School, Geneva, Switzerland
    Ann N Y Acad Sci 936:496-508. 2001
    ..These results will facilitate molecular diagnosis of the disorder, permit prenatal diagnosis for families who so desire, and pave the way for new therapeutic approaches such as gene therapy...
  6. ncbi The molecular basis of inherited afibrinogenaemia
    M Neerman-Arbez
    Division of Medical Genetics, University Medical School, Geneva, Switzerland
    Thromb Haemost 86:154-63. 2001
    ..These results will facilitate molecular diagnosis of the disorder, permit prenatal diagnosis for families who so desire, and pave the way for new therapeutic approaches such as gene therapy...
  7. ncbi Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations
    Marguerite Neerman-Arbez
    Department of Genetic Medicine and Development, University Medical School, University of Geneva, Geneva, Switzerland
    Hum Mutat 28:540-53. 2007
    ....
  8. ncbi Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family
    Marguerite Neerman-Arbez
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 101:3492-4. 2003
    ..The fetus was found to be heterozygous for the Trp467Stop mutation by direct sequencing and by linkage analysis, a result that was confirmed in the newborn by intermediate fibrinogen levels...
  9. ncbi Molecular basis of fibrinogen deficiency
    Marguerite Neerman-Arbez
    Department of Genetic Medicine and Development, University Medical School and Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
    Pathophysiol Haemost Thromb 35:187-98. 2006
    ..The aim of this review is to illustrate the diverse molecular mechanisms by which mutations lead to fibrinogen deficiency, in particular in congenital afibrinogenemia...
  10. pmc Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'
    Silja Vorjohann
    Department of Genetic Medicine and Development, University of Geneva Medical Centre, Geneva, Switzerland
    Thromb Haemost 104:990-7. 2010
    ..Fibrin made from purified patient fibrinogen clotted with thrombin displayed thinner fibers with frequent ends and large pores...
  11. ncbi Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion
    Dung Vu
    Centre Medical Universitaire, 1 rue Michel Servet, CH 1211 Geneva, Switzerland
    Blood 102:4413-5. 2003
    ....
  12. doi A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family
    Emmanuel Levrat
    Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
    Blood Coagul Fibrinolysis 22:148-50. 2011
    ....
  13. ncbi A novel regulatory element between the human FGA and FGG genes
    Richard J Fish
    Department of Genetic Medicine and Development, University of Geneva Medical Centre, Geneva, Switzerland
    Thromb Haemost 108:427-34. 2012
    ..Variation in such elements could affect fibrinogen production and influence CVD risk...
  14. ncbi Fibrinogen gene regulation
    Richard J Fish
    Department of Genetic Medicine and Development, University of Geneva Medical Centre, Geneva, Switzerland
    Thromb Haemost 108:419-26. 2012
    ..Finally, we discuss the fibrinogen locus in light of recent advances in understanding chromosomal architecture and suggest future directions for researching the mechanisms that control fibrinogen expression...
  15. ncbi Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)
    Catia Attanasio
    Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland
    Blood 101:1851-6. 2003
    ..Indeed, we found that in FGA intron 3 was preferentially spliced first, followed by intron 2, intron 4, and intron 1...
  16. doi Congenital fibrinogen disorders: an update
    Philippe de Moerloose
    Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
    Semin Thromb Hemost 39:585-95. 2013
    ..Replacement therapy is effective in treating bleeding episodes, but because the pharmacokinetics of fibrinogen after replacement therapy is highly variable among patients, it is important to adjust the treatment individually. ..
  17. doi Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia
    Yordanka Tirefort
    Haemostasis Unit, University Hospital of Geneva and University of Geneva Faculty of Medicine, Geneva, Switzerland
    Blood Coagul Fibrinolysis 23:556-8. 2012
    ..385 C>T (CGA>TGA) R129X. The patient suffered from occasional severe arthralgias (shoulder, knee) most likely caused by intra-articular bleeding with subsequent inflammation...
  18. doi Developmental expression and organisation of fibrinogen genes in the zebrafish
    Richard J Fish
    Department of Genetic Medicine and Development, University of Geneva Medical Centre, 1, rue Michel Servet, 1211 Geneva 4, Switzerland
    Thromb Haemost 107:158-66. 2012
    ..This regulatory sequence can now be used for overexpression of transgenes in zebrafish hepatocytes. Our study is a proof-of-concept step towards using zebrafish to model human disease linked to fibrinogen gene mutations...
  19. ncbi Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12
    Marc Friedli
    Division of Medical Genetics, Centre Medical Universitaire, University of Geneva Medical School, 1 rue Michel Servet, CH 1211 Geneva 4, Switzerland
    Gene 320:31-40. 2003
    ..Attempts to functionally characterise CLIC6 by voltage clamp failed to show any chloride channel activity. Hence, the exact function of this protein remains unknown...
  20. pmc Targeted mutation of zebrafish fga models human congenital afibrinogenemia
    Richard J Fish
    Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
    Blood 123:2278-81. 2014
    ..This model will now serve in the search for afibrinogenemia modifying genes or agents and, to our knowledge, is the first transmissible zebrafish model of a defined human bleeding disorder. ..
  21. ncbi Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia
    Dung Vu
    Department of Genetic Medicine and Development, Swiss Institute of Bioinformatics, University Medical Centre, Geneva, Switzerland
    Hum Mol Genet 14:3271-80. 2005
    ..Our data provide new insight into the mechanisms accounting for the quality control of fibrinogen secretion and confirm that mutant fibrinogen retention is one of the pathological mechanisms responsible for congenital afibrinogenemia...
  22. doi Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants
    Dung Vu
    Department of Genetic Medicine and Development, University Medical Center, Geneva, Switzerland
    Haematologica 93:224-31. 2008
    ..Here our aim was to restore the secretion of these mutants and study the properties of the rescued mutant molecules...
  23. doi Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency
    Yordanka Tirefort
    Division of Hematology, University Hospital, Geneva, Switzerland
    Blood Coagul Fibrinolysis 23:251-2. 2012
    ..This novel amino acid substitution in the serine protease catalytic domain appears to be responsible for the low factor XI levels in both individuals...
  24. pmc A liver enhancer in the fibrinogen gene cluster
    Alexandre Fort
    Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
    Blood 117:276-82. 2011
    ....
  25. ncbi Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis
    Laura Rubbia-Brandt
    Gastrointestinal and Liver Pathology Unit, University Hospital, 24 Rue Micheli du Crest, 1211 Geneva 14, Switzerland
    Am J Surg Pathol 30:906-11. 2006
    ..Our results suggest that familial hypofibrinogenemia should be considered in the differential diagnosis of a progressive liver disease associated to hepatocellular intracytoplasmic globular inclusions...
  26. pmc DNA methylation profiling of the fibrinogen gene landscape in human cells and during mouse and zebrafish development
    Silja Vorjohann
    Department of Genetic Medicine and Development, University of Geneva Medical Centre, Geneva, Switzerland
    PLoS ONE 8:e73089. 2013
    ....
  27. ncbi Treatment of congenital fibrinogen disorders
    Philippe de Moerloose
    University Hospital, Division of Angiology and Haemostasis, 1211 Geneva 14, Switzerland
    Expert Opin Biol Ther 8:979-92. 2008
    ..However, apart from the possibility of developing safer fibrinogen concentrates and the availability of prenatal diagnosis, the basic therapeutic approach has changed little...
  28. doi Regulation of fibrinogen production by microRNAs
    Alexandre Fort
    Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
    Blood 116:2608-15. 2010
    ....
  29. doi Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia
    Isabelle Tchou
    Geneva University Hospitals, Switzerland
    Eur J Haematol 83:595-602. 2009
    ..These cases reinforce the belief that patients suffering from IRIDA have no specific geographical or ethnic distribution and are sporadic secondary to different mutations of the matriptase-2 gene...
  30. pmc Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice
    Marilena D Papaioannou
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Mol Cell Proteomics 10:M900587MCP200. 2011
    ..Altogether, our study, which is one of the few in vivo analyses of miRNA effects on protein output, suggests that, at least in our system, miRNAs play a significant role in translation control...
  31. doi Fibrinogen and the risk of thrombosis
    Philippe de Moerloose
    Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
    Semin Thromb Hemost 36:7-17. 2010
    ..This review discusses the various quantitative and qualitative defects of fibrinogen associated with thrombosis, the tests that may predict the thrombotic risk, as well as some preventive or therapeutic approaches...
  32. doi A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis
    Helia Robert-Ebadi
    Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
    Blood Coagul Fibrinolysis 19:697-9. 2008
    ....
  33. ncbi Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A
    Alessandro Casini
    aDivision of Angiology and Haemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland bDepartment of Biology and Haematology, CHU Dijon, Dijon, France cDivision of Internal Medicine, University Hospitals and Faculty of Medicine dDepartment of Genetic Medicine and Development, University of Geneva, Faculty of Medicine, Geneva, Switzerland
    Blood Coagul Fibrinolysis 25:280-2. 2014
    ....
  34. pmc C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human
    Franck Bontems
    Department of Human Protein Sciences, Faculty of Medicine, University of Geneva, Geneva, Switzerland
    PLoS ONE 9:e86476. 2014
    ..We provide here the first evidence for a C2orf62-TTC17 axis that would regulate actin polymerization and ciliogenesis. ..
  35. ncbi Homophenotypic Aalpha R16H fibrinogen (Kingsport): uniquely altered polymerization associated with slower fibrinopeptide A than fibrinopeptide B release
    Dennis K Galanakis
    Blood Bank, L5, University Hospital, HSC, SUNY, Stony Brook, New York 11794 7530, USA
    Blood Coagul Fibrinolysis 18:731-7. 2007
    ..We hypothesize that during normal polymerization these constitutive des-BB fibrin monomer properties attenuate their des-AA fibrin counterparts...
  36. ncbi Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain
    Philippe de Moerloose
    Haemostasis Unit, Geneva University Hospital, Switzerland
    Blood Coagul Fibrinolysis 15:269-72. 2004
    ....
  37. ncbi Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency
    Myrna Germanos-Haddad
    Haematologica 90:418-9. 2005
    ..The F11 gene was analyzed and a cross reacting material positive (CRM+) variant, Thr575Met, was identified in homozygosity in the proband, and in heterozygosity in four of her siblings...
  38. ncbi [Congenital afibrinogenemia: focusing on molecular mechanisms controlling fibrinogen secretion]
    Dung Vu
    Med Sci (Paris) 22:117-20. 2006
  39. ncbi Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient
    Roula A Farah
    Department of Pediatrics, Rizk Hospital, Beirut, Lebanon
    Thromb Haemost 95:893-5. 2006