Research Topics
Genomes and Genes | Marguerite Neerman-ArbezSummaryAffiliation: University of Geneva Country: Switzerland Publications
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Publications
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene clusterM 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...- Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutationsMarguerite Neerman-Arbez
Department of Genetic Medicine and Development, University Medical School, University of Geneva, Geneva, Switzerland
Hum Mutat 28:540-53. 2007.... - Molecular basis of fibrinogen deficiencyMarguerite 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... - Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cellsMarguerite Neerman-Arbez
Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland
Blood 104:3618-23. 2004.... - Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian familyMarguerite 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... - The molecular basis of inherited afibrinogenaemiaM 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... - Fibrinogen gene mutations accounting for congenital afibrinogenemiaM 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... - Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemiaM 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... - Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genesM 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... - Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretionDung Vu
Centre Medical Universitaire, 1 rue Michel Servet, CH 1211 Geneva, Switzerland
Blood 102:4413-5. 2003.... 
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...
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian familyEmmanuel Levrat
Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
Blood Coagul Fibrinolysis 22:148-50. 2011....- A novel regulatory element between the human FGA and FGG genesRichard 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... - 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... - Developmental expression and organisation of fibrinogen genes in the zebrafishRichard 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... - Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12Marc 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... - Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemiaDung 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... - Fibrinogen gene regulationRichard 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... - Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutantsDung 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... - Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiencyYordanka 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... - A liver enhancer in the fibrinogen gene clusterAlexandre Fort
Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
Blood 117:276-82. 2011.... - Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosisLaura 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... - Treatment of congenital fibrinogen disordersPhilippe 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... - Regulation of fibrinogen production by microRNAsAlexandre Fort
Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
Blood 116:2608-15. 2010.... - Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemiaIsabelle 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... - Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of miceMarilena 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... - Fibrinogen and the risk of thrombosisPhilippe 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... - A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosisHelia Robert-Ebadi
Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
Blood Coagul Fibrinolysis 19:697-9. 2008.... - Mutation of the translation initiation codon in FGA causes congenital afibrinogenemiaYordanka 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... - Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domainPhilippe de Moerloose
Haemostasis Unit, Geneva University Hospital, Switzerland
Blood Coagul Fibrinolysis 15:269-72. 2004.... - Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiencyMyrna 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... - Homophenotypic Aalpha R16H fibrinogen (Kingsport): uniquely altered polymerization associated with slower fibrinopeptide A than fibrinopeptide B releaseDennis 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... - [Congenital afibrinogenemia: focusing on molecular mechanisms controlling fibrinogen secretion]Dung Vu
Med Sci (Paris) 22:117-20. 2006 - Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patientRoula A Farah
Department of Pediatrics, Rizk Hospital, Beirut, Lebanon
Thromb Haemost 95:893-5. 2006