0000000000460447

AUTHOR

P. Le Coutre

showing 2 related works from this author

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany

1997

Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany. In the Jewish population, three of these mutations account for more than 90% of all mutated alleles. In addition, relatives of two patients were included in our study. Restriction fragment length polymorphism analysis and sequencing of PCR products obtained from DNA of peripheral blood leukoc…

AdultMaleAdolescentGenotypePopulationBiologymedicine.disease_causeCompound heterozygosityFrameshift mutationGermanyGenotypeGeneticsmedicineHumansAlleleChildeducationGeneAllelesGenetics (clinical)GeneticsMutationeducation.field_of_studyGaucher DiseaseMiddle AgedPhenotypeChild PreschoolMutationFemaleRestriction fragment length polymorphismGene DeletionPolymorphism Restriction Fragment LengthHuman Genetics
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Dynamics of BCR-ABL mRNA expression in first-line therapy of chronic myelogenous leukemia patients with imatinib or interferon alpha/ara-C.

2003

We sought to determine dynamics of BCR-ABL mRNA expression levels in 139 patients with chronic myelogenous leukemia (CML) in early chronic phase, randomized to receive imatinib (n=69) or interferon (IFN)/Ara-C (n=70). The response was sequentially monitored by cytogenetics from bone marrow metaphases (n=803) and qualitative and quantitative RT-PCR from peripheral blood samples (n=1117). Complete cytogenetic response (CCR) was achieved in 60 (imatinib, 87%) vs 10 patients (IFN/Ara-C, 14%) after a median observation time of 24 months. Within the first year after CCR, best median ratio BCR-ABL/ABL was 0.087%, (imatinib, n=48) vs 0.27% (IFN/Ara-C, n=9, P=0.025). BCR-ABL was undetectable in 25 c…

AdultMaleCancer Researchmedicine.medical_specialtyAntimetabolites AntineoplasticFusion Proteins bcr-ablAlpha interferonAntineoplastic AgentsBiologyGastroenterologyPiperazinesCytogeneticsRecurrenceRisk Factorshemic and lymphatic diseasesInternal medicineLeukemia Myelogenous Chronic BCR-ABL PositivemedicineHumansProspective StudiesRNA MessengerneoplasmsInterferon alfaAgedHematologyABLCross-Over Studiesbreakpoint cluster regionCytarabineInterferon-alphaImatinibHematologyMiddle Agedmedicine.diseasePrognosisPyrimidinesTreatment OutcomeOncologyImmunologyBenzamidesCytarabineImatinib MesylateFemaleChronic myelogenous leukemiamedicine.drugLeukemia
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