Research Topics
Genomes and GenesSpecies | Robert KralovicsSummaryAffiliation: University of Basel Country: Switzerland Publications
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Detail Information
Publications
Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disordersRobert Kralovics
Department of Research, Experimental Hematology, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland
Blood Rev 19:1-13. 2005..Some of these families display clonal hematopoiesis and other features previously only found in sporadic MPD. Elucidating the molecular defect(s) in these pedigrees will likely be relevant for understanding sporadic MPD pathogenesis...- Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disordersRobert Kralovics
Department of Research, Experimental Hematology, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland
Blood 108:1377-80. 2006..Our results suggest that in a proportion of patients with MPDs, JAK2-V617F occurs on the background of clonal hematopoiesis caused by a somatic mutation in an as-yet-unknown gene... - Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2Robert Kralovics
Experimental Hematology, Department of Research, Division of Clinical Hematology, Division of Pneumology, Basel University Hospital, Switzerland
Blood 106:3374-6. 2005.... 
Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617FFranz X Schaub
Department of Biomedicine, Experimental Hematology, University Hospital Basel, Basel, Switzerland
Blood 113:2022-7. 2009..The fact that rare somatic events, such as del20q or 9pLOH, occurred more than once in subclones from the same patients suggests that the myeloproliferative disorder clone carries a predisposition to acquiring such genetic alterations...- A gain-of-function mutation of JAK2 in myeloproliferative disordersRobert Kralovics
Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
N Engl J Med 352:1779-90. 2005..The loss of heterozygosity (LOH) on the short arm of chromosome 9 (9pLOH) in myeloproliferative disorders suggests that 9p harbors a mutation that contributes to the cause of clonal expansion of hematopoietic cells in these diseases... - Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutationsSai Li
Department of Research, Experimental Hematology, University Hospital Basel, Switzerland
Blood 111:3863-6. 2008..The finding of clonal heterogeneity is compatible with the hypothesis that additional clonal events are involved in the pathogenesis of PV... - A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish familyKun Liu
Department of Biomedicine, Experimental Hematology, University Hospital Basel, Hebelstrasse 20, 4031 Basel, Switzerland
Haematologica 93:706-14. 2008..Germline mutations in families with hereditary thrombocythemia have been identified in the gene for thrombopoietin (TPHO) and its receptor, MPL... - Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disordersRobert Kralovics
Department of Research, Experimental Hematology, Basel University Hospitals, Hebelstrasse 20, 4031 Basel, Switzerland
Blood 102:1869-71. 2003..Thus, altered c-MPL and PRV-1 expression also can arise through a molecular mechanism different from sporadic MPD... - Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the diseaseRobert Kralovics
Department of Research, Experimental Hematology, Basel University Hospital, Switzerland
Blood 102:3793-6. 2003..This finding, together with clonal hematopoiesis in the affected individuals, supports the hypothesis of multiple genetic defects involved in the early pathogenesis of PV... - Endemic polycythemia in Russia: mutation in the VHL geneSonny O Ang
Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
Blood Cells Mol Dis 28:57-62. 2002..These findings strongly suggest that CP is a congenital disorder of oxygen homeostasis... - The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia veraEric Lippert
Laboratoire d Hématologie du CHU de Bourdeaux, France
Blood 108:1865-7. 2006..Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET... - Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disordersDaniela Pietra
Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy
Blood 111:1686-9. 2008..Moreover, a genetic predisposition to acquisition of different JAK2 mutations is inherited in families with myeloproliferative disorders... - Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia veraRobert Kralovics
Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
Exp Hematol 30:229-36. 2002..Analysis of genes within this 9pLOH region revealed increased expression of the NFI-B gene. Our in vitro studies suggest that TGF-beta resistance may be the physiologic mechanism of clonal stem cell expansion in PV...